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

Siddamalla, Swapna; Govatati, Suresh; Venu, Veena Kunjumol; Erram, Nagendram; Deenadayal, Mamata; Shivaji, Sisinthy; Bhanoori, Manjula

doi:10.1007/s00404-020-05658-4

Cited by 3 publications

(1 citation statement)

References 36 publications

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“…Polycystic Ovary Syndrome (PCOS) or Stein-Leventhal syndrome is one of the common endocrine multifactorial disorders aff ecting reproductive-aged women with a prevalence of 6-10% [1,2] and is a leading cause of infertility [3].…”

Section: Introductionmentioning

confidence: 99%

Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women

Bhanoori¹,

KV²,

Siddamalla³

et al. 2022

J Biomed Res Environ Sci

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Purpose: Polycystic Ovary Syndrome (PCOS) is a complex multifactorial endocrine metabolic disorder of reproductive-aged women characterized by hyperandrogenism, hirsutism, anovulation, hyperinsulinemia and polycystic ovaries. The main aim of this study was to investigate the association of eNOS and STAT6 gene Single Nucleotide Polymorphisms (SNPs) with the susceptibility of PCOS in South Indian Women. Research question: What is the association status of eNOS and STAT6 SNPs with PCOS? Methods: The present genetic association study involves clinically confirmed PCOS patients (n = 105) and non-PCOS controls (n = 110) of the Dravidian linguistic group. Genotyping of +894G/T (Glu298Asp) SNP of eNOS and 2964G/A SNP of STAT6 was performed by Polymerase Chain Reaction (PCR) and sequencing analysis. Results: There were statistically significant differences in the genotype and allele frequencies of eNOS+894G/T (p = 0.1110) and STAT62964G/A (0.0019) between the cases and controls, according to codominant, dominant and recessive genotype models. Conclusion: In conclusion, the eNOS and STAT6 gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women.

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Section: Introductionmentioning

confidence: 99%

Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women

Bhanoori¹,

KV²,

Siddamalla³

et al. 2022

J Biomed Res Environ Sci

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Polycystic ovary syndrome in South Asians

Pillay¹,

Khan²,

Ojha³

2024

Polycystic Ovary Syndrome

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Prediction of the Signaling Pathway in Polycystic Ovary Syndrome Using an Integrated Bioinformatics Approach

Fadilah,

Ermanto,

Bowolaksono

et al. 2024

Gynecol Obstet Invest

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Objectives The purpose of this study was to define the underlying biological mechanisms of PCOS utilizing the protein-protein interaction networks that were constructed based on the putative disease-causing genes for PCOS. Design No animals were used in this research because this study is an In-Silico studies which mainly uses softwares and online analysis tools. Participants/Materials, Settings Genes datasets related with PCOS were obtained from Genecard. Methods The protein-protein interaction networks (PPIN) of PCOS were created using the String Database after genes related with PCOS were obtained from Genecard. After that, we performed an analysis of the hub-gene clusters extracted from the PPIN using the ShinyGO algorithm. In the final step of this research project, functional enrichment analysis was used to investigate the primary biological activities and signaling pathways that were associated with the hub clusters. Results The Genecard database provided the source for the identification of a total of 1072 potential genes related with PCOS. The PPIN that was generated by using the genes that we collected above contained a total of 82 genes and three different types of cluster interaction interactions. In addition, after conducting research on the PPIN with the shinyGO plug-in, 19 of the most important gene clusters were discovered. The primary biological functions that were enriched in the key clusters that were developed were ovarian stereoidogenesis, breast cancer pathway, regulation of lipid and glucose metabolism by AMPK pathway, and ovarian stereoidogenesis. The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated to the pathogenesis of PCOS. Limitations Several of the significant genes that were identified in this study, such as ACVR1, SMAD5, BMP6, SMAD3, SMAD4 and AMH. It is necessary to do additional research using large samples, several centers, and multiple ethnicities in order to verify these findings. Conclusions The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated to the pathogenesis of PCOS. This information may possibly bring unique insights for the treatment of PCOS as well as the investigation of its underlying pathogenic mechanism.

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

Cited by 3 publications

References 36 publications

Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women

Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women

Polycystic ovary syndrome in South Asians

Prediction of the Signaling Pathway in Polycystic Ovary Syndrome Using an Integrated Bioinformatics Approach

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