The fatty acid binding protein 2 (FABP2) polymorphism Ala54Thr and obesity in Pakistan: A population based study and a systematic meta-analysis

• First report of the allele/genotype frequencies of Ala54Thr variant of FABP2 gene
• Determined the association of variant with certain plasma lipids in Pakistan
• The variant action isn't influenced by age and gender.

The prevalence of obesity has increased worldwide and it has been designated as a global epidemic by WHO. In Pakistan, recent decades have seen an explosion of obesity, but the research in the field of obesity genetics is limited. We aimed to determine the allele/genotype frequencies of Ala54Thr polymorphism of the FABP2 gene that affects fatty acid metabolism and look for its association on serum biochemical parameters in the Pakistani population. A total of 569 obese and 446 non obese controls were genotyped by PCR-RFLP method. Serum parameters were determined by commercially available kits. Results showed a higher allele frequency of Thr54 allele in cases (0.424) as well as controls (0.331) than Caucasians (0.271). The risk allele was significantly associated with obesity (p = 0.002) and there was a significant difference in allele and genotype frequencies among cases and controls (p = 0.002). The risk allele is significantly associated with serum total cholesterol and LDL-c but not triglycerides, HDL-c, leptin, systolic/diastolic blood pressure and insulin. The Ala54Thr polymorphism has a high prevalence in the Pakistani population and may play a considerable role in the development of obesity. The effect on obesity may be in part mediated through changing serum cholesterol levels. We then performed a systematic search for any previous reports on the association of the variant with obesity. We identified 5 studies for Ala54Thr association with obesity in Asian subjects. The meta-analysis revealed a significant association of the variant with obesity (Thr allele: OR = 1.15, CI = 1.02–1.30 and p-value = 0.02).