Fabp4: A Novel Candidate Gene For Polycystic Ovary Syndrome

Background:Fatty acid-binding proteins (FABPs) are members of the lipid-binding proteins superfamily. The cytosolic fatty acid-binding proteins are widely distributed, low molecular weight and high fatty-acid affinity. Especially, it is supporting abroad role in the intracellular input, transport, storage and output of long-chain fatty acids. To date, nine members of this gene family have been conclusively identified and characterized to tissue-specific specialization. Adipocyte fatty acid binding protein(A-FABP,FABP4)is initially identified in adipose tissue. In many cases of diseases with metabolic disorder, represented by the metabolic syndrome (MS), FABP4 plays a vital role in their developing. In addition, it also serves as a central hub in regulating inflammation, immunization, and other areas.Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder involving a number of genetic and environmental factors. The pathogenesis has not been completely clarified. Heredity, obesity, chronic inflammation, reproductive- endocrine disorder has been reported as the probable cause of PCOS. Beside of anovulatory infertility and hyperandrogenism, these PCOS patients are clined to obesity and metabolic disorder, these are closely related to anovulatory. Previous researches showed strong evidences that FABP4 impacted the developing of PCOS possibly.Objective: The present study is the first attempt to identify the possible genetic role of FABP4 gene in the development of PCOS.Methods: About 1000 bp of the promoter region and four exons of FABP4 gene of 178 PCOS patients and 171 healthy controls were directly sequenced.Results: Three polymorphisms, rs16909225, rs3834363, rs16909220, were identified, of which rs16909225, rs16909220 were completely linked (r2=1) and not associated with PCOS developing, while -2-bp/-2-bp genotype of rs3834363 in PCOS was significantly higher than that in the controls (χ2=7.39, df=1, P=0.007, OR=1.80 95% CI: 1.18-2.75).Conclusion: The -2-bp/-2-bp genotype and -2-bp allele of rs3834363 in the promoter region may represent a genetic risk factor for the development of PCOS in our population.