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

IF 3.4 Q2 MEDICINE, RESEARCH & EXPERIMENTAL Biomarker Insights Pub Date : 2024-06-16 eCollection Date: 2024-01-01 DOI:10.1177/11772719241258585

Sherin Bakhashab, Asma A Batarfi, Mahinar M Alhartani, Rola Turki, Wessam Mady

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Abstract

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.

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沙特西部人群中多囊卵巢综合征与 APOA5 rs662799 和 PLIN1 rs894160 代谢变异之间的遗传关联：一项病例对照研究。

背景：多囊卵巢综合征（PCOS）是影响育龄妇女的一种常见内分泌疾病，与胰岛素抵抗和肥胖有关。多囊卵巢综合征的发病机制复杂且多因素，涉及遗传和环境因素：本研究旨在确定和比较西方沙特妇女中载脂蛋白 A5（APOA5；rs662799）和周脂素 1（PLIN1；rs894160、rs1052700 和 rs6496589）基因中单核苷酸多态性（SNPs）的基因型和等位基因频率，以调查它们与多囊卵巢综合征及其临床特征的关系：这是一项病例对照研究，研究对象为患有多囊卵巢综合征（104 人）和未患有多囊卵巢综合征（87 人）的妇女。采用 TaqMan 基因分型测定法对 SNPs 进行基因分型：结果：PCOS 易感性与 APOA5 SNP rs662799 和 PLIN1 SNP rs894160 之间存在显著的直接关联（P APOA5 SNP rs662799，等位基因为 A 的女性比等位基因为 G 的女性更容易患 PCOS（相对风险 [RR] = 1.348，几率比 [OR] = 2.313，P P = .5）。就 PLIN1 SNP rs894160 而言，T 等位基因女性比 C 等位基因女性更有可能患有多囊卵巢综合征（RR = 8.043，OR = 7.427，P PLIN1 SNP rs1052700，TT 基因型女性比 AT 基因型女性更有可能患有高雄激素症（OR = 29.75，P = .02）和月经不调（OR = 0.07，P = .040）：结论：我们在沙特西部人群中发现了导致多囊卵巢综合症遗传风险的新等位基因和基因型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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