rs391300

This is a regulatory region variant variant in the SRR gene.

▶

GWAS Catalog Trait Associations (2)

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

body mass index, osteoarthritis

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)

Allele T

OR —

p 5.0e-17

N 1,633,524

Large GWAS

European

type 2 diabetes mellitus

Tsai FJ et al. “A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.” Plos Genetics 6(2):e1000847 (2010)

Allele G

OR 1.28

p 3.0e-9

N 1,889

Large GWAS

East Asian

▶

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

PubMed DOI Metascience Observatory

About SRR

Enables several functions, including L-serine ammonia-lyase activity; PDZ domain binding activity; and heterocyclic compound binding activity. Involved in carboxylic acid metabolic process and response to lipopolysaccharide. Located in cytoplasm and neuronal cell body. [provided by Alliance of Genome Resources, Jul 2025]