Genotype- Phenotype correlations of Leptin receptor gene in Polycystic ovarian disease (PCOS)
Journal Title: IOSR Journal of Biotechnology and Biochemistry (IOSR-JBB - Year 2018, Vol 4, Issue 1
Abstract
Introduction: Polycystic ovarian syndrome (PCOS) is one of the commonest endocrine disorder amongst women of reproductive age group. Polymorphisms in the in the Leptin receptor gene (LEPR) have been associated various related diseases ranging to Obesity, PCOS and infertility. In this context, we evaluated association between PCOS and LEPR 668 A/G polymorphism. Material and methods: This is inter-disciplinary study conducted by collaboration between a tertiary care endocrinology hospital, biochemistry department of a teaching medical institute and genetics lab. In this prospective study involving 100 PCOS patients with 100 age matched controls, we employed 1 set of primer and screened the known single nucleotide polymorphism LEPR gene. Apart from qualitative and quantitative evaluation, linkage disequilibrium, multifactor dimensionality reduction analysis and In-silico analysis were performed. Results: The percentage of AA, AG and GG genotypes in patients was 15, 56, 29 while it was 30, 50 and 20 in controls respectively. Relative risk analysis of the LEPR 668 A/G polymorphism revealed a threefold risk for the “AG” and “GG” genotypes under the codominant model of inheritance (OR= 2.24, CI= 1.02 – 4.96, p= 0.04 and OR= 2.9, CI= 1.15 – 7.38, p= 0.02 respectively). Similarly a two fold risk was also observed for the “AG+GG” genotypes under the dominant model of inheritance (OR= 2.43, CI= 1.15 – 5.17, p=0.018). When relative risk for the alleles demonstrated a twofold risk of G allele towards disease establishment (OR= 1.62, CI= 1.07 – 2.45, p= 0.021). Conclusions: The present study has implicated the role of the AG and GG genotypes, and the G allele in contributing towards establishment and progression of PCOS though further studies are warranted to establish the same in the general population.
Authors and Affiliations
K. Sampurna, B Ramesh, S Madhavi, PRK Bhargav, N Vimala devi, KB Gayathri
Keywords
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