rs1799883
badMag 4.0This is a variant in the FABP2 gene that changes a threonine to an alanine.
Key Literature Trait Associations
Pulmonary embolism
A GWAS meta-analysis in the Han Chinese population (1,268 PE cases, 17,663 controls) identified rs1799883 as a novel genome-wide significant susceptibility locus for pulmonary embolism (OR=1.42, 95% CI 1.31–1.54, p=7.6×10⁻¹⁷). Functional studies confirmed that the A163G variant (rs1799883) promotes increased FABP2 transcription and protein expression. The proposed mechanism involves enhanced long-chain fatty acid transport contributing to altered hemostasis or vascular function. This association has been identified in one population to date; independent replication in non-Asian cohorts is needed.
Type 2 diabetes mellitus
Multiple meta-analyses have confirmed a significant association between the Thr54 allele and type 2 diabetes risk. A 2015 meta-analysis (24 studies; 4,517 cases, 5,224 controls) found the T allele associated with T2DM with OR=1.16 (95% CI 1.08–1.24, p<0.001). A 2026 meta-analysis of 26 studies (n=14,939) identified a particularly strong association under the recessive model (AA homozygotes vs. carriers: OR=4.11, 95% CI 2.96–5.71, p<0.00001), with significant effects in Asian and Caucasian populations. A large Indian study (n=1,672) confirmed that Thr54 carriers had elevated 2-hour glucose, HbA1c, and higher rates of impaired glucose tolerance.
Dietary Fat Absorption / Insulin Resistance
FABP2 (fatty acid binding protein 2) in intestinal cells shuttles dietary fatty acids. The rs1799883 variant (Ala54Thr) doubles the protein's affinity for fatty acids — Thr54 (A allele) carriers absorb more dietary fat per meal and show higher postprandial triglyceride spikes. Over time this can contribute to insulin resistance and elevated metabolic risk. The T2D risk effect is most clearly shown in Asian populations; results in Europeans are less consistent. Carriers may benefit from moderating total fat intake.
Metabolic syndrome
The Thr54 allele confers elevated risk of metabolic syndrome across multiple populations. A meta-analysis of studies encompassing 2,194 cases and 3,282 controls found the T allele associated with metabolic syndrome (OR=1.18, 95% CI 1.015–1.362, p=0.031). In a Chinese cohort, the TT homozygous genotype showed OR=2.27 for metabolic syndrome versus Ala54 homozygotes (p=0.008). South Indian data confirmed ORs of 1.24–1.81 for metabolic syndrome in Thr54 carriers. Effect heterogeneity across studies is notable, with some European cohorts showing null associations.
LDL cholesterol
A meta-analysis of 30 fasting lipid studies (n=14,401) found that Thr54 carriers have modestly but significantly higher total cholesterol (SMD=0.07, p=0.005), higher LDL-C (SMD=0.09, p=0.002), and lower HDL-C (SMD=−0.05, p=0.04) compared to Ala54 homozygotes. A Pakistani case-control study (n=1,015) confirmed the Thr allele is significantly associated with serum total cholesterol and LDL-C. These lipid changes are consistent with the enhanced intestinal fat absorption conferred by the Thr54 variant and may contribute to cardiovascular risk.
Obesity
Thr54 allele carriers consistently show higher BMI, waist circumference, and visceral fat in candidate-gene and cross-sectional studies across Asian populations. In a Chinese cohort, the AT genotype was associated with obesity (OR=2.63, p=0.036) and the TT genotype even more strongly (OR=4.16, p=0.003). A Pakistani meta-analysis of Asian studies found a modest but significant pooled OR of 1.15 for obesity. The obesity association was not statistically significant in the 2015 global meta-analysis (OR=1.07, p=0.37), suggesting population-specific and possibly diet-dependent effects. Physical activity can mitigate adiposity outcomes in Thr54 carriers.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶Research that mentions this SNP (5)
▶Genetic variation at the CELF1 (CUGBP, elav‐like family member 1 gene) locus is genome‐wide associated with Alzheimer's disease and obesityReviewAnke Hinney et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This literature review examines the influence of genetic polymorphisms on obesity development and adaptive responses to physical activity, focusing on five candidate genes: COMT (rs4680, Val158Met), DRD2 (rs1800497 Taq1A and rs1799732), FABP2 (rs1799883, Ala54Thr), FTO (rs9939609, A/T), and UCP1 (rs1800592, A-3826G). The review synthesizes molecular mechanisms, phenotypic associations, and implications for human health and training adaptations, noting that physical activity reduces the FTO genetic effect on obesity risk by 30-80% and that various polymorphisms show differential impacts on body composition and metabolic responses to exercise.
▶AdipoQ polymorphisms are associated with type 2 diabetes mellitus: a meta‐analysis studyAssociationN=975Haiyan Chu et al.(2013)· Diabetes/Metabolism Research and Reviews
A case-control study of 443 T2D cases and 532 controls from a Russian population (HAPIEE cohort) investigating four polymorphisms as predictors of type 2 diabetes development over 10 years. rs7903146 in TCF7L2 was significantly associated with T2D risk (TT genotype RR 3.90, 95% CI 2.31-6.61; TC genotype RR 1.86, 95% CI 1.42-2.43; CC protective RR 0.37, 95% CI 0.29-0.49, all p<0.001). No significant associations were found for rs1799883 (FABP2), rs2237892 (KCNQ1), or rs6773957 (ADIPOQ). TCF7L2 rs7903146 retained significance in risk models for both men and women.
▶Moderate effects of apple juice consumption on obesity-related markers in obese men: impact of diet–gene interaction on body fat contentAssociationN=68Stephan W. Barth et al.(2012)· European Journal of Nutrition
A randomized controlled intervention study in 68 obese men tested the effects of polyphenol-rich cloudy apple juice (750 mL/day for 4 weeks) on obesity-related markers and diet-gene interactions. Cloudy apple juice significantly reduced percent body fat (Δ: -1.0 ± 1.3% vs control -0.2 ± 0.9%, p < 0.05) and increased lean body mass. The IL-6-174 G/C polymorphism (rs1800795) showed significant interaction with body fat reduction: only C/C carriers showed significant fat loss with apple juice consumption (p = 0.011 for interaction), while G/C and G/G carriers did not respond.
▶Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factorsFunctionalMaja 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.
▶Candidate gene association study of type 2 diabetes in a nested case‐control study of the EPIC‐Potsdam cohort – Role of fat assimilationAssociationN=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.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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