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rs734312

From SNPedia

Orientationplus
Stabilizedplus
Make rs734312(A;A)
Make rs734312(A;G)
Make rs734312(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6301627
GeneWFS1
is asnp
is mentioned by
dbSNPrs734312
ebirs734312
HLIrs734312
Exacrs734312
Varsomers734312
Maprs734312
PheGenIrs734312
hapmaprs734312
1000 genomesrs734312
hgdprs734312
ensemblrs734312
gopubmedrs734312
geneviewrs734312
scholarrs734312
googlers734312
pharmgkbrs734312
gwascentralrs734312
openSNPrs734312
23andMers734312
23andMe allrs734312
SNP Nexus

SNPshotrs734312
SNPdbers734312
MSV3drs734312
GWAS Ctlgrs734312
GMAF0.4803
Max Magnitude
? (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 for histamine and a G encodes for 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 18060660OA-icon.png] [|Full Text]

[PMID 18568334] His allele associated with estimates of decreased beta cell function in individuals with abnormal glucose regulation


Venter snp
Source plos
Gene WFS1
allele A
frequency 0.717
sift AFFECT FUNCTION
HuRef 1103654325528
Disease Association Defects in WFS1 are the cause of Wolfram syndrome (WFS) (MIM:222300); also known as diabetes insipidus and mellitus with optic atrophy and deafness syndrome (DIDMOAD). It is a rare autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various neurological symptoms.



Neighborrs28937892
Distance321
Neighborrs28937891
Distance252


[PMID 19258739] Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population

[PMID 18040659OA-icon.png] 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 19401414OA-icon.png] 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.


GET Evidence
WFS1-R611H
aa_change Arg611His
aa_change_short R611H
impact not reviewed
qualified_impact Low clinical importance, Uncertain not reviewed
overall_frequency 0.400446
summary This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).



[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
Variation info
Gene WFS1
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.6303354G>A
CLNSRC HGMD
CLNACC RCV000038646.9,