Genetic Association Between Polycystic Ovary Syndrome and the rs662799 and rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study

Autor: Sherin Bakhashab, Asma A Batarfi, Mahinar M Alhartani, Rola Turki, Wessam Mady
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Biomarker Insights, Vol 19 (2024)
Druh dokumentu: article
ISSN: 1177-2719
11772719
DOI: 10.1177/11772719241258585
Popis: Background: Polycystic ovary syndrome (PCOS) is a common endocrinological condition affecting women of reproductive age, associated with insulin resistance and obesity. PCOS pathogenesis is complex and multifactorial, involving genetic and environmental factors. Objectives: This study aimed to determine and compare genotype and allele frequencies of single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 ( APOA5 ; rs662799) and perilipin 1 ( PLIN1 ; rs894160, rs1052700 and rs6496589) genes in Western Saudi women to investigate their association with PCOS and its clinical characteristics. Design and methods: This was a case-control study conducted on women with ( n = 104) and without ( n = 87) PCOS. The SNPs were genotyped using TaqMan genotyping assays. Results: Significant and direct associations were detected between PCOS susceptibility and APOA5 SNP rs662799 and PLIN1 SNP rs894160 ( P
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