rs11668950

This is a downstream gene variant variant in the IFI30 gene.

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GWAS Catalog Trait Associations (2)

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

health study participation

Adams MJ et al. “Factors associated with sharing e-mail information and mental health survey participation in large population cohorts.” International Journal of Epidemiology 49(2):410-421 (2020)

Allele A

OR 0.01

p 3.0e-8

N 371,428

Large GWAS

European

serum alanine aminotransferase amount

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 G

OR 0.02

p 6.0e-13

N 584,062

Major Consortium StudyLarge GWAS

multi-ancestry

Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)

Allele G

OR 0.05

p 2.0e-10

N 218,595

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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A polymorphism of the interferon-gamma-inducible protein 30 gene is associated with hyperglycemia in severely obese individuals

AssociationN=1,283Turcot V. et al.(2012)· Human Genetics

A two-stage case-control study in 1,283 severely obese individuals identified a significant association between the IFI30 gene SNP rs11554159 (p.R76Q) and hyperglycemia/type 2 diabetes risk. Heterozygous GA individuals showed reduced risk compared to GG homozygotes (OR=0.67, P=0.0009). The protective effect was not explained by differences in IFI30 mRNA expression levels in visceral adipose tissue, suggesting a functional effect of the variant rather than an expression effect.

Traits studied:Cardiovascular disease risk factorsDyslipidemiaFasting plasma glucoseHyperglycemiaHypertensionMetabolic syndromeType 2 diabetes

PubMed DOI Metascience Observatory

About IFI30

The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]