rs6857641

This variant is located in the FABP2 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factors
FunctionalMaja Klapper et al.(2008)· Human Mutation

This functional study demonstrates that FABP2 promoter haplotypes A and B differ in transcriptional activity by 2-3 fold, with haplotype B showing lower activity. The c.-80_-79insT polymorphism (rs5861422) is the primary determinant of this differential regulation, operating through stronger binding of GATA-5 and GATA-6 transcription factors to the haplotype A allele in intestinal cells.

Traits studied:Body mass indexInsulin resistancePostprandial triglyceride levelsType 2 diabetes
PubMedDOIMetascience Observatory
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Candidate gene association study of type 2 diabetes in a nested case‐control study of the EPIC‐Potsdam cohort – Role of fat assimilation
AssociationN=576Eva Fisher et al.(2007)· Molecular Nutrition & Food Research

Candidate gene association study screening 15 genes involved in fat assimilation for type 2 diabetes susceptibility. In 192 cases and 384 controls from EPIC-Potsdam, six SNPs showed significant associations: FABP6 Thr79Met (rs1130435, OR=0.45, 95% CI 0.22-0.92) showed the strongest protective effect; DBI rs2084202 and rs8192506 (Met71Val), PTGES2 rs13283456 (Arg298His, OR=0.64), SLC27A5 promoter variant (OR=0.54), and novel CLPS Ala109Cys variant (OR=5.83) also associated with diabetes risk. Results provide preliminary evidence for fat assimilation genes in type 2 diabetes susceptibility but require further verification.

Traits studied:Type 2 diabetes
PubMedDOIMetascience Observatory

About FABP2

The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]

View all FABP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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