Ethnic-specific association of LEPR rs1137101 polymorphism with polycystic ovary syndrome risk: A meta-analysis and bioinformatics study

Polycystic ovary syndrome is a common endocrine disorder with complex genetic and metabolic factors. Polymorphisms in the leptin receptor gene may alter the risk of polycystic ovary syndrome. One of the key polymorphisms in the leptin receptor gene is rs1137101, and this study aimed to investigate the relationship between this polymorphism and the risk of polycystic ovary syndrome using a meta-analysis approach, followed by a bioinformatics assessment. In a systematic search, reliable databases such as PubMed, Scopus, Google Scholar, and ScienceDirect were assessed. The association strength of rs1137101 polymorphism with polycystic ovary syndrome risk was estimated by odds ratio and 95% confidence interval. Some bioinformatics tools were used to evaluate the effect of rs1137101 polymorphism on the leptin receptor gene function. After a systematic search, eight eligible studies were included in our meta-analysis. Our analysis showed that this polymorphism was associated with an increased risk of polycystic ovary syndrome in the Asian (AA vs. AG+GG: OR= 2.6075, 95%CI= 1.6260-4.1816, P<0.001; AA vs. AG: OR= 2.0787, 95%CI= 1.2784; 3.3799, P= 0.003) and Caucasian (AA vs. AG: OR=1.5041, 95%CI=1.0334-2.1891, P=0.033) populations. Meanwhile, a different result was obtained in the Arab population and the polymorphism of rs1137101 was found to be inversely associated with the risk of polycystic ovary syndrome (AA vs. AG: OR=0.7351, 95%CI=0.5833-0.9265, P=0.009). The bioinformatics analysis also showed that this polymorphism could affect certain features and interactions of the leptin receptor protein. Based on the obtained results, rs1137101 polymorphism can affect the risk of polycystic ovary syndrome with a race-dependent approach.