Association of genetic variations in phosphatase and tensin homolog (PTEN) gene with polycystic ovary syndrome in South Indian women: a case control study



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?


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.


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.


The PTEN (rs1903858A/G, rs185262832G/A and rs10490920T/C) gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women.

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Swapna Siddamalla would like to thank University Grants Commission (UGC-BSR-RFMS), India, for providing a Senior Research Fellowship (SRF).


This study was supported in part by grants from the Department of Science and Technology (DST), SERB-(Lr No: SR/FT/LS-188/2009) and DST-PURSE-II Programme (DST Sanction No. SR/PURSE Phase 2/32(G)), India to Dr. Manjula Bhanoori.

Author information




SS: execution of experiments, analysis and interpretation of data, statistical analysis and drafting of manuscript. SG: acquisition of data. VKV: data analysis. EN: data analysis. MD: acquisition of data. SS: analysis and interpretation of data, drafting of manuscript. MB: conception and design of study, analysis and interpretation of data, statistical analysis, drafting of manuscript. All authors will have seen and agreed to the ‘Author Contribution’ statement.

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Correspondence to Manjula Bhanoori.

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The study was approved by the ethical committee and review board of Centre for Cellular and Molecular biology (CCMB), Hyderabad. In the study all the participants were of South Indian origin (Dravidian linguistic group).

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Informed written consent form was obtained from all subjects prior to participation in this study.

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Siddamalla, S., Govatati, S., Venu, V.K. et al. Association of genetic variations in phosphatase and tensin homolog (PTEN) gene with polycystic ovary syndrome in South Indian women: a case control study. Arch Gynecol Obstet (2020).

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  • Polycystic ovary syndrome
  • PTEN
  • SNP
  • Haplotype analysis
  • South Indian women