Elaine R Nimmo

Gastrointestinal Unit, Wester General Hospital University of Edinburgh, Edinburgh, UK.

50 publications 2004 – 2017

What does Elaine R Nimmo research?

Elaine R Nimmo studies how certain genetic variations are linked to inflammatory bowel diseases, which include conditions like Crohn's disease and ulcerative colitis. Her research has identified key gene variations, particularly in the GLI1 gene, that increase the risk of developing these diseases. Additionally, she investigates the DeltaF508 mutation, commonly associated with cystic fibrosis, to understand its potential protective effects against Crohn's disease. By uncovering these genetic connections, her work aims to enhance our understanding of these chronic conditions and help develop targeted treatments.

Key findings

  • A variation in the GLI1 gene is associated with a 19% higher risk of developing ulcerative colitis in over 5,000 individuals studied.
  • The DeltaF508 cystic fibrosis mutation was found to reduce the likelihood of developing Crohn's disease, particularly among Italian and Swedish patients from a group of 2,568 individuals.
  • The research highlighted the role of hedgehog signaling in regulating intestinal inflammation pathways, which could open new avenues for treatment.

Frequently asked questions

Does Dr. Nimmo study Crohn's disease?
Yes, Dr. Nimmo researches Crohn's disease, focusing on genetic factors that may influence its development.
What treatments has Dr. Nimmo researched?
While Dr. Nimmo's research primarily identifies genetic risks, her work can lead to insights for future treatments by exploring the genetic basis of inflammatory bowel diseases.
Is Dr. Nimmo's work relevant to patients with ulcerative colitis?
Yes, her research directly relates to ulcerative colitis by identifying genetic variations, which can help guide future treatment strategies for those affected.

Publications in plain English

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

2017

Nature genetics

de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y +27 more

Plain English
This study looked at the genetics of inflammatory bowel disease (IBD) by analyzing the DNA of nearly 60,000 people. Researchers found 25 new genetic spots that increase the risk of IBD, including three that are linked to proteins important for immune response. They also discovered that certain genetic changes can increase both the risk of disease and how the body reacts to immune challenges, revealing new potential targets for treatments. Who this helps: Patients suffering from inflammatory bowel disease.

PubMed

Serum Calprotectin: A Novel Diagnostic and Prognostic Marker in Inflammatory Bowel Diseases.

2016

The American journal of gastroenterology

Kalla R, Kennedy NA, Ventham NT, Boyapati RK, Adams AT +7 more

Plain English
This study looked at a blood test called serum calprotectin to see if it could help diagnose and predict outcomes in people with inflammatory bowel diseases (IBD), which include conditions like Crohn's disease. Researchers analyzed data from 171 patients and found that serum calprotectin was a strong predictor of IBD diagnosis, with odds nearly 9 times greater than other common markers. The combination of serum calprotectin with other markers could predict the need for increased treatment or surgery in patients, especially in Crohn's disease, in about 80% of cases if certain criteria are met. Who this helps: This research benefits patients with inflammatory bowel diseases by providing a more accurate way to diagnose and manage their condition.

PubMed

Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease.

2016

Nature communications

Ventham NT, Kennedy NA, Adams AT, Kalla R, Heath S +8 more

Plain English
This study examined the role of DNA methylation changes in people with inflammatory bowel disease (IBD), comparing 240 recently diagnosed patients to 190 healthy individuals. Researchers found 439 specific areas in DNA where methylation differed significantly and identified three key regions that influence gene activity related to IBD. These findings help us understand how genetic factors and environmental influences interact in this disease, which is crucial for developing better treatments. Who this helps: This aids patients with inflammatory bowel disease and the doctors treating them.

PubMed

MicroRNAs: new players in IBD.

2015

Gut

Kalla R, Ventham NT, Kennedy NA, Quintana JF, Nimmo ER +2 more

Plain English
This study investigated the role of microRNAs (small molecules that help control gene activity) in inflammatory bowel diseases (IBD), which include conditions like Crohn's disease and ulcerative colitis. The researchers found that microRNAs are important in managing the immune system, which is often malfunctioning in IBD patients. Understanding how these molecules work could lead to new treatments that better address the underlying causes of IBD. Who this helps: This helps patients with inflammatory bowel diseases.

PubMed

Changes to serum sample tube and processing methodology does not cause Intra-Individual [corrected] variation in automated whole serum N-glycan profiling in health and disease.

2015

PloS one

Ventham NT, Gardner RA, Kennedy NA, Shubhakar A, Kalla R +5 more

Plain English
This study looked at how different types of serum sample tubes and processing methods affect the analysis of N-glycans, which are potential markers for various diseases. Researchers found that using different tubes and processing techniques led to minimal variations in N-glycan profiles within the same individual, with correlation scores as high as 1. This consistency is important for reliably discovering biomarkers in health and disease. Who this helps: This benefits researchers and doctors working on disease diagnostics.

PubMed

Inflammatory bowel disease associates with proinflammatory potential of the immunoglobulin G glycome.

2015

Inflammatory bowel diseases

Trbojević Akmačić I, Ventham NT, Theodoratou E, Vučković F, Kennedy NA +14 more

Plain English
This study looked at changes in certain sugar molecules attached to a type of antibody (IgG) in patients with inflammatory bowel disease (IBD), specifically ulcerative colitis (UC) and Crohn's disease (CD). Researchers found that patients with UC had 29% less of certain sugar types compared to healthy individuals, while CD patients had a 59% reduction. These findings suggest that the altered IgG structure could make inflammation worse in IBD and may affect how well certain treatments work. Who this helps: Patients with inflammatory bowel disease and their doctors.

PubMed

Correction: changes to serum sample tube and processing methodology does not cause inter-individual variation in automated whole serum N-glycan profiling in health and disease.

2015

PloS one

Ventham NT, Gardner RA, Kennedy NA, Shubhakar A, Kalla R +5 more

PubMed

Two-stage genome-wide methylation profiling in childhood-onset Crohn's Disease implicates epigenetic alterations at the VMP1/MIR21 and HLA loci.

2014

Inflammatory bowel diseases

Adams AT, Kennedy NA, Hansen R, Ventham NT, OʼLeary KR +8 more

Plain English
This study looked at how changes in DNA methylation (a process that can affect gene activity) could be linked to early-onset Crohn's disease, a type of inflammatory bowel disease. Researchers found 65 specific spots in the DNA where methylation was significantly altered, and they noted that these changes were particularly strong near certain genetic markers associated with the disease. Importantly, the study showed that these methylation changes can help accurately predict Crohn's disease in children. Who this helps: This helps doctors and researchers working with children and adolescents who have Crohn's disease.

PubMed

The intermediate filament protein, vimentin, is a regulator of NOD2 activity.

2013

Gut

Stevens C, Henderson P, Nimmo ER, Soares DC, Dogan B +5 more

Plain English
This study focused on the relationship between a protein called vimentin and its influence on another protein linked to Crohn's disease (CD), known as NOD2. Researchers found that vimentin is essential for NOD2 to function properly. Specifically, they discovered that certain changes in the vimentin gene can increase the risk of developing Crohn's disease, highlighting vimentin as a potential new target for treatment. Who this helps: This helps patients with Crohn's disease.

PubMed

Haplotype-tagging analysis of common variants of the IL23R gene demonstrates gene-wide extent of association with IBD.

2013

Inflammatory bowel diseases

Van Limbergen J, Russell RK, Nimmo ER, Kabakchiev B, Drummond HE +2 more

PubMed

Beyond gene discovery in inflammatory bowel disease: the emerging role of epigenetics.

2013

Gastroenterology

Ventham NT, Kennedy NA, Nimmo ER, Satsangi J

Plain English
Researchers studied the genetic and epigenetic factors that contribute to inflammatory bowel diseases (IBDs), including Crohn's disease and ulcerative colitis. They found 163 genetic areas linked to these diseases, but genetics only explain part of the problem, highlighting the importance of studying how environmental factors interact with genes. Understanding these interactions may lead to new insights and treatments for IBD. Who this helps: This helps patients with inflammatory bowel diseases and their doctors.

PubMed

Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway.

2012

Inflammatory bowel diseases

Nimmo ER, Prendergast JG, Aldhous MC, Kennedy NA, Henderson P +5 more

Plain English
This study looked at how changes in DNA methylation, which is a chemical modification that can affect gene activity, relate to Crohn's disease, a chronic inflammatory bowel condition. Researchers compared DNA from 40 women with Crohn's disease and 19 healthy women and found that 1,117 DNA sites differed in their methylation patterns; 50 of these were significantly changed in people with the disease. This matters because it highlights potential new targets for understanding and treating Crohn's disease, focusing particularly on immune responses. Who this helps: Patients with Crohn's disease and their doctors.

PubMed

Variation in ICOSLG influences Crohn's disease susceptibility.

2011

Gut

Henderson P, van Limbergen J, Anderson NH, Nimmo ER, Russell RK +2 more

PubMed

TLE1 modifies the effects of NOD2 in the pathogenesis of Crohn's disease.

2011

Gastroenterology

Nimmo ER, Stevens C, Phillips AM, Smith A, Drummond HE +6 more

Plain English
This study looked at how a protein called TLE1 affects the role of another protein, NOD2, in causing Crohn's disease, a type of inflammatory bowel disease. Researchers found that specific changes in the TLE1 gene made some people more likely to develop Crohn's disease, particularly affecting the ileal part of the intestine; they identified a significant link with a risk factor of 1.45. Understanding this relationship is important because it could lead to better ways to identify who is at risk for Crohn's disease and help develop targeted treatments. Who this helps: This benefits patients with Crohn's disease and their doctors by providing insights into risk factors and potential therapies.

PubMed

Exploring the hidden heritability of inflammatory bowel disease.

2011

Gut

Satsangi J, Kennedy NA, Henderson P, Wilson DC, Nimmo ER

PubMed

Detailed haplotype-tagging study of germline variation of MUC19 in inflammatory bowel disease.

2010

Inflammatory bowel diseases

Phillips AM, Nimmo ER, Van Limbergen J, Drummond HE, Smith L +1 more

PubMed

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

2010

Nature

, Craddock N, Hurles ME, Cardin N, Pearson RD +213 more

Plain English
This study looked at genetic variations called copy number variants (CNVs) in nearly 19,000 people to see if they are linked to eight common diseases, including Crohn’s disease and type 2 diabetes. The researchers found that while they confirmed associations between some CNVs and diseases, these links were mostly already identified by other genetic studies focusing on different types of genetic variation called SNPs. This means that common CNVs don’t play a big role in the genetics of these diseases. Who this helps: This information benefits researchers and doctors looking to understand genetics in common diseases.

PubMed

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

2009

Gastroenterology

Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M +29 more

Plain English
This study looked at the genetic factors that make people more likely to develop Crohn's disease (CD) and ulcerative colitis (UC), two types of inflammatory bowel diseases. The researchers analyzed the DNA of over 2,500 people with UC and identified nine genetic regions linked to the disease, with the strongest link on chromosome 1 showing a significant association. Understanding these genetic connections is important because it can help doctors better predict who might develop these conditions and lead to more targeted treatments. Who this helps: Patients with inflammatory bowel diseases.

PubMed

Germline variants of IRGM in childhood-onset Crohn's disease.

2009

Gut

Van Limbergen J, Russell RK, Nimmo ER, Drummond HE, G D +2 more

PubMed

Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel disease.

2009

Inflammatory bowel diseases

Van Limbergen J, Russell RK, Nimmo ER, Zhao Y, Liao H +10 more

Plain English
This study investigated the connection between a specific genetic variant called filaggrin (FLG) and the occurrence of allergies (like eczema and asthma) in children with inflammatory bowel disease (IBD). Researchers analyzed genetic data from 403 children with IBD and found that 52% of them had at least one allergy, with a significant number carrying FLG variants linked to conditions like eczema (19%) and food allergies (28%). This matters because understanding these genetic links can help doctors better manage allergy-related symptoms in children with IBD. Who this helps: This helps patients with IBD and their doctors in managing associated allergic conditions.

PubMed

Autophagy: from basic science to clinical application.

2009

Mucosal immunology

Van Limbergen J, Stevens C, Nimmo ER, Wilson DC, Satsangi J

Plain English
This study looked at autophagy, a process where cells break down and recycle parts of themselves, especially when nutrients are low. Researchers found that autophagy is involved in various health issues such as cancer and autoimmune diseases, highlighting its role in diseases like Crohn's disease. Understanding and potentially controlling this process might lead to new treatments for these conditions. Who this helps: Patients with autoimmune diseases and other related health issues can benefit from these findings.

PubMed

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

2009

PloS one

Villani AC, Lemire M, Louis E, Silverberg MS, Collette C +18 more

Plain English
Researchers studied how variations in the MEFV gene, which is linked to familial Mediterranean fever, might influence the risk of developing Crohn's disease and ulcerative colitis, both types of inflammatory bowel disease. They found that certain genetic markers in the MEFV gene were associated with ulcerative colitis but not with Crohn's disease, with one variant showing a significant risk (p = 0.0005) where 32% of ulcerative colitis patients had this risk allele compared to 23% in healthy individuals. This matters because understanding these genetic links can help identify who is at risk for ulcerative colitis and could lead to better prevention or treatment strategies. Who this helps: This research helps patients with ulcerative colitis and their doctors.

PubMed

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

2009

Nature genetics

, Barrett JC, Lee JC, Lees CW, Prescott NJ +89 more

Plain English
This study looked at the genetic factors that might make people more likely to develop ulcerative colitis, a type of inflammatory bowel disease. Researchers analyzed DNA from over 2,000 patients and 5,000 healthy individuals, identifying three new genetic regions linked to the disease, with one gene (HNF4A) showing a very strong connection (P = 3.2 x 10(-17)). These findings could improve understanding of how ulcerative colitis develops and help in creating targeted treatments. Who this helps: This helps patients with ulcerative colitis and their doctors.

PubMed

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts.

2008

Journal of medical genetics

Browning BL, Annese V, Barclay ML, Bingham SA, Brand S +34 more

Plain English
This study looked at a specific genetic variant, called DLG5 R30Q, in over 4,700 patients with Crohn's disease and nearly 5,000 healthy individuals to see if it affects the risk of developing the disease differently in men and women. The researchers found that this variant seems to slightly lower the risk of Crohn's disease in women, with an odds ratio of 0.86, indicating that women with this genetic variant are about 14% less likely to develop Crohn's than those without it. In men, there was no significant association found. Who this helps: This research helps doctors understand genetic factors that may affect Crohn’s disease risk, particularly in women.

PubMed

Autophagy gene ATG16L1 influences susceptibility and disease location but not childhood-onset in Crohn's disease in Northern Europe.

2008

Inflammatory bowel diseases

Van Limbergen J, Russell RK, Nimmo ER, Drummond HE, Smith L +10 more

Plain English
This study looked at a specific gene, ATG16L1, to see if it affects the likelihood of developing Crohn's disease in children compared to adults, particularly in Scotland. The researchers found that a variation of this gene is linked to adult Crohn's disease, with 60.7% of adult patients carrying it, compared to 53.9% of those without the disease. However, this gene variation does not appear to influence whether children develop Crohn's disease or the age they are diagnosed. Who this helps: This information is useful for doctors treating Crohn's disease, particularly in understanding differences between adult and childhood cases.

PubMed

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

2008

Nature genetics

Fisher SA, Tremelling M, Anderson CA, Gwilliam R, Bumpstead S +32 more

Plain English
Researchers studied the genetics behind ulcerative colitis and found a new risk factor linked to a gene called ECM1. They also discovered that certain genes are shared with Crohn's disease, which is another type of inflammatory bowel disease, while some genes are unique to Crohn’s. This research helps us better understand how these diseases are related and may guide future treatments. Who this helps: Patients with ulcerative colitis and Crohn's disease.

PubMed

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis.

2008

Genes and immunity

Russell RK, Drummond HE, Wilson DC, Anderson NH, Arnott ID +3 more

Plain English
This study looked at genetic variations in a specific gene (NOD2/CARD15) in people from Scotland with inflammatory bowel disease, particularly Crohn's disease. Researchers analyzed genetic information from 1,478 individuals and identified 18 variations, but only two had significant differences in a specific type of colitis—41.4% of those with indeterminate colitis carried one variant compared to 16.2% of healthy individuals, indicating a potential link. Overall, the findings show that known genetic factors do not fully explain the high rates of Crohn's disease in Scotland, highlighting the need for further research into other causes. Who this helps: This benefits patients with inflammatory bowel disease by informing researchers about genetic factors involved in their condition.

PubMed

Definition of phenotypic characteristics of childhood-onset inflammatory bowel disease.

2008

Gastroenterology

Van Limbergen J, Russell RK, Drummond HE, Aldhous MC, Round NK +10 more

Plain English
This study looked at how inflammatory bowel disease (IBD) presents in children compared to adults by examining 416 children and 1,297 adults in Scotland. The researchers found that 51% of children with Crohn's disease had it spread to both the small and large intestines at diagnosis, and many experienced worsening symptoms quickly; 24% developed serious complications within four years. Understanding these differences is important because it can lead to more tailored treatments and better management strategies for children with IBD. Who this helps: This helps pediatricians and healthcare providers who treat children with inflammatory bowel disease.

PubMed

Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways.

2008

PLoS medicine

Lees CW, Zacharias WJ, Tremelling M, Noble CL, Nimmo ER +16 more

Plain English
Researchers looked at a gene called GLI1 to understand its role in inflammatory bowel diseases, particularly ulcerative colitis (UC) and Crohn’s disease (CD). They found that a specific variation in the GLI1 gene, present in over 5,000 individuals, is linked to an increased risk of UC, with a 19% higher likelihood of developing the disease for those carrying the variant. This is important because it reveals how GLI1 and its signaling may influence the body's response to inflammation in the gut, potentially helping us understand and treat these chronic diseases better. Who this helps: This helps patients with ulcerative colitis and Crohn's disease by identifying genetic risks that may guide future treatments.

PubMed

Genetics of the innate immune response in inflammatory bowel disease.

2007

Inflammatory bowel diseases

Van Limbergen J, Russell RK, Nimmo ER, Ho GT, Arnott ID +2 more

Plain English
This study looked at how certain genes related to the body's natural immune response play a role in inflammatory bowel disease (IBD), particularly Crohn's disease. Researchers found that variations in several genes, including NOD2 and others, contribute to the development of IBD, suggesting a more complex relationship between genetics and the immune system in the gut. Understanding these connections is important because it can lead to better treatments and management of IBD. Who this helps: This helps patients with inflammatory bowel disease and their doctors.

PubMed

Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe.

2007

Inflammatory bowel diseases

Van Limbergen J, Russell RK, Nimmo ER, Törkvist L, Lees CW +16 more

Plain English
This study looked at a specific genetic variant (NOD1/CARD4+32656) to see if it is linked to inflammatory bowel disease (IBD) in people from Scotland and Sweden. Researchers tested nearly 4,000 individuals, including both IBD patients and healthy controls, and found that this genetic variant did not show a significant connection to the disease, with allele frequencies being very similar between groups. This finding suggests that this particular variant is not a major factor in causing IBD in Northern Europe, and it may be more effective to look at groups of related genes rather than single variants in future research. Who this helps: This helps researchers and doctors working on understanding and treating inflammatory bowel disease.

PubMed

The contribution of the DLG5 113A variant in early-onset inflammatory bowel disease.

2007

The Journal of pediatrics

Russell RK, Drummond HE, Nimmo ER, Anderson N, Wilson DC +7 more

Plain English
This study examined a specific genetic variation (the DLG5 113A mutation) in Scottish children with early-onset inflammatory bowel disease (IBD). Researchers found that 66.7% of children with this mutation came from more affluent families, and those with the mutation were taller on average and more likely to be male if they had Crohn's disease. Understanding this link is important because it helps identify which children might be more susceptible to IBD based on their genetics and social background. Who this helps: This helps doctors and families of children at risk for inflammatory bowel disease.

PubMed

IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland.

2007

Gut

Van Limbergen J, Russell RK, Nimmo ER, Drummond HE, Smith L +10 more

PubMed

Contribution of the IBD5 locus to Crohn's disease in the Swedish population.

2007

Scandinavian journal of gastroenterology

Törkvist L, Noble CL, Lördal M, Sjöqvist U, Lindforss U +4 more

Plain English
This study looked at genetic factors that might make people more likely to develop Crohn's disease in Sweden. Researchers compared 178 patients with Crohn's disease to 143 healthy people and found that certain gene variants were linked to the disease. Specifically, they found that people with the IGR2096a_1 marker had a 55% higher risk of Crohn's disease compared to healthy individuals, and variants of the genes SLC22A4 and SLC22A5 also showed significant associations. Who this helps: This research helps patients with Crohn's disease and their doctors by improving understanding of genetic risks associated with the condition.

PubMed

IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease.

2007

Gastroenterology

Tremelling M, Cummings F, Fisher SA, Mansfield J, Gwilliam R +16 more

Plain English
This study focused on understanding how variations in the IL23R gene influence the risk of developing inflammatory bowel disease (IBD), particularly Crohn's disease (CD) and ulcerative colitis (UC). Researchers analyzed data from nearly 3,200 patients and found a strong link between a specific gene variant (Arg381Gln) and CD, showing that people with this variant had a significantly lower chance of having the disease (only 2.5% had the variant compared to 6.2% of healthy individuals). While there was a smaller effect for UC, this research confirms the importance of the IL23R gene in susceptibility to IBD and supports new methods for identifying genes involved in complex diseases. Who this helps: This helps patients with inflammatory bowel disease by improving understanding of genetic risk factors.

PubMed

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

2007

Nature genetics

Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA +27 more

Plain English
This study looked for genetic variations linked to Crohn's disease, a type of inflammatory bowel disease. Researchers found strong connections between the disease and several specific genetic areas, especially the IRGM gene, with statistical results indicating it is significantly associated with Crohn's disease (with a combined probability score of 2.1 x 10(-10)). These findings are important because they help us understand genetic factors that may increase the risk of Crohn's disease, potentially leading to better prevention and treatment strategies. Who this helps: This helps patients with Crohn's disease and their doctors in understanding genetic risks.

PubMed

Investigation of NOD1/CARD4 variation in inflammatory bowel disease using a haplotype-tagging strategy.

2007

Human molecular genetics

Van Limbergen J, Nimmo ER, Russell RK, Drummond HE, Smith L +5 more

Plain English
This study looked at the NOD1/CARD4 gene to see if variations in this gene are linked to inflammatory bowel disease (IBD) in people from Scotland. Researchers analyzed data from 2,296 participants, including 356 children with IBD, and found no significant connection between NOD1/CARD4 variations and IBD, Crohn's disease, or ulcerative colitis. This matters because it suggests that changes in this particular gene are not a major risk factor for these diseases in the Scottish population. Who this helps: This helps doctors and researchers understand the genetic factors involved in inflammatory bowel disease.

PubMed

The genetics of inflammatory bowel disease.

2007

The American journal of gastroenterology

Van Limbergen J, Russell RK, Nimmo ER, Satsangi J

Plain English
Researchers have made significant progress in understanding the genetics behind inflammatory bowel disease (IBD) over the past decade. They identified several genes linked to conditions like Crohn's disease, with the first major gene, NOD2/CARD15, discovered in 2001. Recent studies have uncovered more genes, like IL23R and ATG16L1, that help us understand the disease better and may lead to improved treatment options. Who this helps: This benefits patients with inflammatory bowel disease and their doctors by offering new insights for better management and treatment.

PubMed

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

2007

Nature genetics

, , Burton PR, Clayton DG, Cardon LR +226 more

Plain English
This study looked at genetic variations in 14,500 specific genes related to four diseases: ankylosing spondylitis, autoimmune thyroid disease, multiple sclerosis, and breast cancer. Researchers found two new genetic links to ankylosing spondylitis and confirmed previous links for autoimmune thyroid disease. These discoveries can help us understand autoimmune diseases better and may lead to improved treatments. Who this helps: This helps patients with autoimmune diseases and their doctors by providing insights into genetic risk factors.

PubMed

Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease.

2007

Inflammatory bowel diseases

Bresso F, Askling J, Astegiano M, Demarchi B, Sapone N +15 more

Plain English
This study looked at the common DeltaF508 mutation in cystic fibrosis to see if it plays a role in Crohn's disease, a type of inflammatory bowel disease. Researchers analyzed 2,568 people from Italy, Sweden, and Scotland and found that people with this mutation were less likely to have Crohn's disease, especially in Italian and Swedish patients. This matters because it suggests that the DeltaF508 mutation might help protect against Crohn's disease, which could influence future research and treatment options. Who this helps: Patients with Crohn's disease and healthcare providers.

PubMed

ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach.

2006

Human molecular genetics

Ho GT, Soranzo N, Nimmo ER, Tenesa A, Goldstein DB +1 more

Plain English
This study looked at how variations in the ABCB1/MDR1 gene affect the risk of developing ulcerative colitis, an inflammatory bowel disease. Researchers found a strong link between certain genetic variants and ulcerative colitis, especially with one specific variant called rs3789243, which was statistically significant (P=3.2 x 10(-7)-3.6 x 10(-12)). Understanding these genetic factors is important because they can help doctors tailor treatments for patients based on their genetic makeup. Who this helps: Patients with ulcerative colitis and their doctors.

PubMed

Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease.

2006

Gut

Russell RK, Drummond HE, Nimmo ER, Anderson NH, Noble CL +8 more

Plain English
Researchers studied genetic variations (OCTN1 and OCTN2) in children with early-onset inflammatory bowel disease (IBD), specifically Crohn's disease (CD) and ulcerative colitis (UC). They found that children with specific genetic markers were more likely to have these conditions, with the OCTN1 variant linked to a 3.52 times higher chance of being underweight at diagnosis. Understanding these genetic influences is important because it can help identify children at higher risk for growth issues and IBD. Who this helps: This helps patients with early-onset IBD and their doctors.

PubMed

New genes in inflammatory bowel disease: lessons for complex diseases?

2006

Lancet (London, England)

Gaya DR, Russell RK, Nimmo ER, Satsangi J

Plain English
This study looked at new genes linked to inflammatory bowel diseases, specifically Crohn's disease and ulcerative colitis, which affect about 1 in 250 people in northern Europe. Researchers reviewed advancements in understanding the genetic factors involved since the identification of the CARD15 gene in 2001. These findings are important because they can help develop better treatments and management strategies for patients suffering from these chronic conditions. Who this helps: Patients with inflammatory bowel diseases.

PubMed

Contribution of CARD15 variants in determining susceptibility to Crohn's disease in Sweden.

2006

Scandinavian journal of gastroenterology

Törkvist L, Noble CL, Lördal M, Sjöqvist U, Lindforss U +4 more

Plain English
This study looked at how specific genetic changes in the CARD15 gene relate to Crohn's disease in Swedish patients. It found that two variants, R702W and G908R, were more common in people with Crohn's disease (4.5% and 2.0% respectively) compared to healthy individuals (0.7% and 0%). These variants seem to make patients more likely to develop ileal Crohn's disease, which affects the last part of the small intestine, while offering some protection against a form of the disease that affects the colon. Who this helps: This helps patients with Crohn's disease understand the genetic factors that may contribute to their condition.

PubMed

Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis.

2006

Gut

Ho GT, Soranzo N, Tate SK, Drummond H, Nimmo ER +3 more

PubMed

Toll-like receptor 4 gene in IBD: further evidence for genetic heterogeneity in Europe.

2005

Gut

Arnott ID, Ho GT, Nimmo ER, Satsangi J

PubMed

Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis.

2005

Gastroenterology

Ho GT, Nimmo ER, Tenesa A, Fennell J, Drummond H +3 more

Plain English
This study focused on variations in a gene called MDR1, which is linked to how the body processes drugs and substances in the intestines. The researchers found that a specific version of this gene (C3435T) was more common in people with ulcerative colitis (UC) than in healthy individuals, with 34.6% of UC patients having the more risky TT genotype compared to 26.5% of controls. This finding matters because understanding these gene variations can help identify individuals at higher risk for more severe cases of UC, which can inform treatment options. Who this helps: Patients with ulcerative colitis and their doctors.

PubMed

DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.

2005

Gut

Noble CL, Nimmo ER, Drummond H, Smith L, Arnott ID +1 more

Plain English
This study examined the role of a gene called DLG5 in the likelihood of developing inflammatory bowel disease (IBD) among the Scottish population. Researchers tested 1,073 individuals, including 374 with Crohn's disease, 305 with ulcerative colitis, and 294 healthy people, to see if certain genetic variants influenced the risk of these diseases. They found no significant associations, meaning that variations in the DLG5 gene do not appear to affect susceptibility to IBD among Scots, which differs from findings in Germany. Who this helps: This information benefits patients with IBD and doctors treating them by providing clarity on genetic risk factors specific to the Scottish population.

PubMed

The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease.

2005

Gastroenterology

Noble CL, Nimmo ER, Drummond H, Ho GT, Tenesa A +4 more

Plain English
This study looked at the role of certain gene variations (OCTN1 and OCTN2) in the development and severity of Crohn's disease, a type of inflammatory bowel disease. Researchers analyzed blood samples from 679 patients and found that specific gene variants were linked to an increased risk of Crohn's disease, with 49.1% of patients having the IGR2198 variant compared to 40.8% of healthy individuals. This is important because the presence of these gene variants also predicted more severe disease and a higher likelihood of needing surgery. Who this helps: Patients with Crohn's disease and their doctors can better understand genetic factors that influence disease severity and treatment options.

PubMed

Disease location, anti-Saccharomyces cerevisiae antibody, and NOD2/CARD15 genotype influence the progression of disease behavior in Crohn's disease.

2004

Inflammatory bowel diseases

Smith BR, Arnott ID, Drummond HE, Nimmo ER, Satsangi J

Plain English
This study looked at how different factors influence the progression of Crohn's disease over time in 231 patients. It found that by 20 years, 92% of patients had a more severe type of the disease, and those with ileal disease and positive anti-Saccharomyces cerevisiae antibody were more likely to progress quickly and need more surgery. Importantly, certain variants in the NOD2/CARD15 gene can protect against rapid disease progression. Who this helps: This research helps doctors better understand Crohn's disease and can guide treatment decisions for patients.

PubMed

Publication data sourced from PubMed . Plain-English summaries generated by AI. Not medical advice.