rs2297508

This is a regulatory region variant variant in the SREBF1 gene.

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GWAS Catalog Trait Associations (4)

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

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 1.0e-22
N 408,112
Large GWAS
European

type 2 diabetes mellitus

Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele G
OR 0.03
p 2.0e-14
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry

heart rate

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 C
OR 0.02
p 6.0e-13
N 609,495
Major Consortium StudyLarge GWAS
multi-ancestry

coffee consumption measurement

Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele G
OR 0.01
p 3.0e-9
N 335,909
Large GWAS
European
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Research that mentions this SNP (1)

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Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes
AssociationN=3,659Harding AH et al.(2006)· Diabetologia

This candidate gene association study examined SREBF1c polymorphisms in relation to type 2 diabetes risk. Six SNPs spanning the SREBF1c gene were genotyped in two case-control studies (n=1,938 combined) and a cohort study (n=1,721). The intronic SNP rs11868035 showed significantly increased diabetes risk (OR=1.20, p=0.015), as did three SNPs in the 5' region (rs2236513, rs6502618, rs1889018, all OR≥1.21, p≤0.006). These SNPs were also weakly associated with plasma glucose concentrations in the cohort study.

Traits studied:120-minute post-load plasma glucoseFasting plasma glucosePlasma glucose concentrationType 2 diabetes
PubMedDOIMetascience Observatory

About SREBF1

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]

View all SREBF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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