rs2836878

This is a intergenic variant variant.

▶

GWAS Catalog Trait Associations (10)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ulcerative colitis

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.25
p 7.0e-53
N 27,432
Large GWAS
multi-ancestry
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele G
OR 0.80
p 2.0e-16
N 376,871
Large GWAS
European
Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)
Allele G
OR 1.25
p 2.0e-22
N 26,405
Meta-analysisLarge GWAS
European
McGovern DP et al. “Genome-wide association identifies multiple ulcerative colitis susceptibility loci.” Nature Genetics 42(4):332-7 (2010)
Allele G
OR 1.27
p 1.0e-8
N 9,484
Large GWAS
European

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.18
p 5.0e-48
N 34,366
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.13
p 6.0e-13
N 626,677
Major Consortium StudyLarge GWAS
multi-ancestry
Wu Y et al. “GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.” Nature Communications 12(1):1146 (2021)
Allele G
OR 1.21
p 2.0e-21
N 456,327
Large GWAS
European

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 5.0e-33
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry
Ligthart S et al. “Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.” American Journal of Human Genetics 103(5):691-706 (2018)
Allele A
OR 0.04
p 8.0e-26
N 206,158
Large GWAS
European

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 1.0e-20
N 381,099
Major Consortium StudyLarge GWAS
European

Red cell distribution width

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 9.0e-20
N 380,819
Major Consortium StudyLarge GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.11
p 5.0e-15
N 20,883
Large GWAS
multi-ancestry

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 1.0e-13
N 261,863
Major Consortium StudyLarge GWAS
European

alkaline phosphatase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-12
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.01
p 8.0e-9
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 2.0e-23
N 407,343
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (5)

▶
Associations Between Genetic Variants in the IRGM Gene and Inflammatory Bowel Diseases in the Korean Population
AssociationN=400Chang Mo Moon et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis by Paul Henderson comprises multiple studies on paediatric inflammatory bowel disease (PIBD) in Scotland, including epidemiological studies documenting a 76% rise in IBD incidence, genetic association studies identifying ICOSLG SNP rs8126734-A as overtransmitted in IBD/CD (p=0.0467, OR 1.85 for CD; p=0.0084), CRP gene variants rs1130864-A and rs1417938-A associated with PIBD susceptibility (OR 1.56-1.89 for CD), and functional characterization of NOD2 and autophagy pathways in Crohn's disease pathogenesis.

Traits studied:Colonic IBD unclassifiedCrohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
▶
Phenotype–Genotype Profiles in Crohnʼs Disease Predicted by Genetic Markers in Autophagy-Related Genes (GOIA Study II)
AssociationN=448Cecília Durães et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis encompasses multiple studies on pediatric inflammatory bowel disease (IBD): epidemiological analysis shows rising incidence in Scotland (4.45 to 7.82 per 100,000 per year); transmission disequilibrium testing identified rs8126734-A as overtransmitted in IBD and CD (OR 1.48, p=0.047; OR 1.85 for CD, p=0.008); genome-wide association meta-analysis confirmed strong signals in ICOSLG 3'UTR for CD susceptibility; CRP gene variants (rs1417938, rs1130864) showed significant overtransmission (p=0.006, p=0.015); and faecal calprotectin demonstrated superior diagnostic accuracy for PIBD detection (sensitivity 0.93, specificity 0.74).

Traits studied:Crohn's diseaseInflammatory bowel diseasePediatric inflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
▶
Distinct and overlapping genetic loci in crohnʼs disease and ulcerative colitis: Correlations with pathogenesis
AssociationN=3,431Matti Waterman et al.(2011)· Inflammatory Bowel Diseases

This study examined 40 SNPs (34 CD-associated and 6 UC-associated) in 2374 Canadian IBD patients (1144 CD, 1230 UC/IBDU) and 1057 healthy controls. While most immune-related variants showed similar frequencies between CD and UC, the two diseases diverged significantly in genes related to innate immunity and autophagy (NOD2, ATG16L1, IRGM), which were more prevalent in CD. In patients with colon-only CD, genetic overlap with UC was nearly complete, suggesting a shared genetic basis for colonic disease.

Traits studied:Crohn's diseaseInflammatory bowel disease (IBD)Ulcerative colitis
PubMedDOIMetascience Observatory
▶
Genome wide association (GWA) predictors of anti-TNFα therapeutic responsiveness in pediatric inflammatory bowel disease
AssociationN=94Marla C. Dubinsky et al.(2010)· Inflammatory Bowel Diseases

This GWAS of pediatric IBD patients (n=94) tested associations of known IBD susceptibility loci and novel pharmacogenetic variants with response to anti-TNF α therapy. Non-response occurred in 22 patients (23%). The final predictive model combined UC diagnosis, pANCA positivity, three pharmacogenetic GWAS loci (rs975664 in TACR1 [OR 26.5], rs4855535 in FAM19A4 [OR 10.8], rs6100556 in PHACTR3 [OR 13.8]), and the known susceptibility SNP rs2836878 in BRWD1 (OR 8.0), achieving R²=0.82 and AUC=0.98. The relative risk of non-response increased 15-fold when patients carried ≥3 risk factors.

Traits studied:Anti-TNF α therapeutic responseCrohn's DiseaseInflammatory Bowel Disease (IBD)Ulcerative Colitis
PubMedDOIMetascience Observatory
▶
Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…