Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study.

Autor: Bakhashab S; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia., Batarfi AA; Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Alhartani MM; College of Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia., Turki R; Department of Obstetrics and Gynaecology, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Mady W; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Jazyk: angličtina
Zdroj: Biomarker insights [Biomark Insights] 2024 Jun 16; Vol. 19, pp. 11772719241258585. Date of Electronic Publication: 2024 Jun 16 (Print Publication: 2024).
DOI: 10.1177/11772719241258585
Abstrakt: 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  < .001). For APOA5 SNP rs662799, women with the A allele were more likely to have PCOS (relative risk [RR] = 1.348, odds ratio [OR] = 2.313, P  < .001) and hypertriglyceridaemia (OR = 17.0, P  = .5) than women with the G allele. For PLIN1 SNP rs894160, women with the T allele were more likely to have PCOS than women with the C allele (RR = 8.043, OR = 7.427, P  < .001). For PLIN1 SNP rs1052700, women with the TT genotype were more likely to have hyperandrogenism (OR = 29.75, P  = .02) and an irregular period (OR = 0.07, P  = .040) than women with the AT genotype.
Conclusion: We identified novel alleles and genotypes contributing to the genetic risk of PCOS in the Western Saudi population.
Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
(© The Author(s) 2024.)
Databáze: MEDLINE
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