rs7578326

This is a intergenic variant variant in the LOC646736 gene.

▶

GWAS Catalog Trait Associations (11)

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

type 2 diabetes mellitus

Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nature Genetics 42(7):579-89 (2010)
Allele A
OR 1.11
p 5.0e-20
N 47,117
Large GWAS
European
Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)
Allele A
OR 0.08
p 3.0e-13
N 183,651
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets
AssociationN=84Dayeh TA et al.(2013)· Diabetologia

Of 40 SNPs previously associated with type 2 diabetes, 19 (48%) introduce or remove CpG sites. In 84 human pancreatic islet donors, all 16 analyzed CpG-SNPs showed statistically significant differential DNA methylation (p≤2.3×10⁻⁵). Several CpG-SNPs including rs391300 (SRR), rs5945326 (DUSP9), rs11708067 (ADCY5), rs5015480 (HHEX), rs13266634 (SLC30A8), rs1801214 (WFS1), rs564398 (CDKN2A), and rs2237895 (KCNQ1) were associated with differential gene expression, alternative splicing, or hormone secretion, suggesting DNA methylation-mediated mechanisms linking genetic variants to type 2 diabetes pathogenesis.

Traits studied:Glucagon secretionInsulin contentInsulin secretionType 2 diabetes
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…