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Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome

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Abstract

Polycystic ovary syndrome (PCOS) is the most common and a complex female endocrine disorder, and is one of the leading cause of female infertility. Here, we aimed to investigate the association of single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 gene in the pathogenesis of PCOS. A hospital-based, observational case–control study was carried on 169 PCOS and 169 control women in the southern region of India. Genotype was carried out by real-time polymerase chain reaction. A chi-square (χ 2) test was performed and the genotypes were verified to comply with the Hardy–Weinberg equilibrium. Odds ratio and 95% confidence interval were calculated to assess the relative risk. Comparison of clinical characteristics of women with PCOS and controls reveal an increase in body mass index (BMI), luteinizing hormone / follicle stimulating hormone (LH/FSH) ratio, glucose levels, insulin, testosterone, hirsutism and antral follicular count in PCOS women. The variant rs1801278 (P=0.002; OR = 2.88; 95% CI = 1.43, 5.80) show an association with PCOS. In the genotypic (P=0.0002) and allelic models (P=0.000), significance persisted even after Bonferroni correction. The genotypes of SNPs strongly influence BMI, LH, LH/FSH ratio, ovarian volume and antral follicular count in PCOS women. The study results were suggestive of a positive association between Gly972Arg of IRS1 and PCOS in the south Indian population, while INS, IRS2, PPAR-G and CAPN10 failed to show any association with PCOS in our studied population. Further studies focussing the role of IRS1 are warranted to delineate its implication towards PCOS.

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Acknowledgement

We acknowledge funding from the Department of Biotechnology (DBT), Government of India (project ref. no. BT/PR14090/ GBD/27/275/2010).

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Authors and Affiliations

  1. Faculty of Biomedical Sciences, Sri Ramachandra University, Chennai, 600 116, India

    MAHESWARI THANGAVELU, SOLOMON F. D. PAUL & RAVI MADDALY

  2. Department of Obstetrics and Gynecology, Sri Ramachandra Medical Centre, Chennai, 600 116, India

    USHA RANI GODLA

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  1. MAHESWARI THANGAVELU
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  2. USHA RANI GODLA
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  3. SOLOMON F. D. PAUL
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  4. RAVI MADDALY
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Correspondence to RAVI MADDALY.

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Corresponding editor: Rajiva Raman

[Thangavelu M., Godla U. R., Paul S. F. D. and Ravi M. 2017 Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome. J. Genet. 96, xx–xx]

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THANGAVELU, M., GODLA, U.R., PAUL, S.F.D. et al. Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome. J Genet 96, 87–96 (2017). https://doi.org/10.1007/s12041-017-0749-z

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