Association of genetic variations in phosphatase and tensin homolog ( PTEN ) gene with polycystic ovary syndrome in Sout
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GYNECOLOGIC ENDOCRINOLOGY AND REPRODUCTIVE MEDICINE
Association of genetic variations in phosphatase and tensin homolog (PTEN) gene with polycystic ovary syndrome in South Indian women: a case control study Swapna Siddamalla1 · Suresh Govatati1 · Veena Kunjumol Venu1 · Nagendram Erram1 · Mamata Deenadayal2 · Sisinthy Shivaji3,4 · Manjula Bhanoori1 Received: 17 February 2020 / Accepted: 18 June 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose The purpose of the study was to investigate the association between gene phosphate and tensin homolog (PTEN) single nucleotide polymorphisms (SNPs) and risk of developing polycystic ovary syndrome (PCOS) in South Indian women. PTEN is one of the most important tumor suppressor genes that regulate cell proliferation, migration, and death. It is also involved in the maintenance of genome stability. PCOS is one of the most common endocrine disorders among women of reproductive age. It is a heterogeneous syndrome characterized by abnormal reproductive cycles, irregular ovulation, hormonal imbalance, hyperandrogenism, acne and hirsutism. Research question What is the association status of PTEN SNPs with PCOS? Methods A total of 240 subjects were recruited in this case–control study comprising 110 patients with PCOS and 130 individuals without PCOS. All the subjects were of South Indian origin. The genotyping of PTEN SNPs (rs1903858 A/G, rs185262832G/A and rs10490920T/C) was carried out on DNA from subjects by polymerase chain reaction (PCR) and sequencing analysis. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D′) for pairwise linkage disequilibrium (LD) were surveyed by Haploview Software. Results Our results showed significant increase in the frequencies of rs1903858 A/G (P = 0.0016), rs185262832 G/A (P = 0.0122) and rs10490920 T/C (P = 0.0234) genotypes and alleles in cases compared to controls. Conclusion The PTEN (rs1903858A/G, rs185262832G/A and rs10490920T/C) gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women. Keywords Polycystic ovary syndrome · PTEN · SNP · Haplotype analysis · South Indian women
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00404-020-05658-4) contains supplementary material, which is available to authorized users. * Manjula Bhanoori [email protected]
Sisinthy Shivaji [email protected]
Swapna Siddamalla [email protected]
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Suresh Govatati [email protected]
Department of Biochemistry, Osmania University, Hyderabad 500 007, India
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Veena Kunjumol Venu [email protected]
Infertility Institute and Research Centre (IIRC), Secunderabad, India
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Nagendram Erram [email protected]
Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India
4
Present Address: Brien Holden Eye Research Centre, L V Prasad Eye Institute, Hyderabad, India
Mamata Deenadayal [email protected]
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