rs734312
| Orientation | plus |
| Stabilized | plus |
| Make rs734312(A;A) |
| Make rs734312(A;G) |
| Make rs734312(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 6301627 |
| Gene | WFS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs734312 |
| dbSNP (classic) | rs734312 |
| ClinGen | rs734312 |
| ebi | rs734312 |
| HLI | rs734312 |
| Exac | rs734312 |
| Gnomad | rs734312 |
| Varsome | rs734312 |
| LitVar | rs734312 |
| Map | rs734312 |
| PheGenI | rs734312 |
| Biobank | rs734312 |
| 1000 genomes | rs734312 |
| hgdp | rs734312 |
| ensembl | rs734312 |
| geneview | rs734312 |
| scholar | rs734312 |
| rs734312 | |
| pharmgkb | rs734312 |
| gwascentral | rs734312 |
| openSNP | rs734312 |
| 23andMe | rs734312 |
| SNPshot | rs734312 |
| SNPdbe | rs734312 |
| MSV3d | rs734312 |
| GWAS Ctlg | rs734312 |
| GMAF | 0.4803 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs734312, or His611Arg, is a SNP located in exon 8 of the WFS1 gene. An A at this SNP encodes histidine and a G encodes arginine.
A single study [PMID 17719176] found this SNP to be associated with medication overuse headache (sample consisting of 82 MOH patients). Compared to the His/His genotypes, those carrying two Arg alleles had a significantly higher monthly drug consumption (p = 0.00075) and higher severe depressive scores on the Beck Depression Index (p = 0.003).
His611Arg is also potentially implicated in type-2 diabetes. In a sample of 3,234 high diabetes risk individuals, Arg/Arg carriers had a generally higher insulinogenic index and lower insulin sensitivity levels, while His allele carriers followed the opposite pattern. Arg/Arg carriers also responded strongly to metformin and lifestyle changes, with significantly elevated insulinogenic levels (p = 0.007 for metformin, p = 0.06 for lifestyle changes) and normalized insulin sensitivity. [PMID 18060660
] [|Full Text]
[PMID 18568334] His allele associated with estimates of decreased beta cell function in individuals with abnormal glucose regulation
[PMID 19258739] Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population
[PMID 18040659] Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.
[PMID 18991055] Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
[PMID 19115052] Common variations in 4p locus are related to male completed suicide.
[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
[PMID 21127832] Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1 gene: the Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study.
[PMID 23257691] Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a meta-analysis
[PMID 24477584] Genetic association of IDE, POU2F1, PON1, IL1α and IL1β with type 2 diabetes in Pakistani population
| ClinVar | |
|---|---|
| Risk | rs734312(A;A) |
| Alt | rs734312(A;A) |
| Reference | rs734312(G;G) |
| Significance | Other |
| Disease | not specified Nonsyndromic Hearing Loss WFS1-Related Spectrum Disorders |
| Variation | info |
| Gene | WFS1 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Dominant WFS1-Related Spectrum Disorders |
| Reversed | 0 |
| HGVS | NC_000004.11:g.6303354G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000038646.10, RCV000339307.1, RCV000404430.1, |
