Genomic association of SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 genes with polycystic ovarian syndrome.

IF 3 3区医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrine Pub Date : 2024-10-14 DOI:10.1007/s12020-024-04065-y

Gulnaz Wazir, Abdul Wajid, Abdul Wahid, Andleeb Batool, Asia Parveen, Quratulain Maqsood, Aqsa Zahid, Shaista Aslam, Naila Malkani

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Abstract

Objective: Polycystic Ovarian Syndrome (PCOS) is a complex endocrine disorder that affects women of reproductive age. Several candidate genes have been shown to be associated with PCOS. Previous studies have shown that variations in CYP11A1 and CYP19A1 genes are associated with hormonal dysregulation associated with PCOS in different ethnic populations. This study aims to investigate the genomic association between SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 and the development of PCOS in Pakistani population.

Methods: A total of 280 subjects were recruited for the study, including 142 PCOS cases diagnosed based on Rotterdam criteria and 138 age-matched controls. The anthropometric, hormonal and biochemical parameters of all subjects were analyzed. Genomic DNA was extracted and genotyping of the selected SNPs was performed using Sanger sequencing. Further, we also examined the genotypic-phenotypic correlation analysis for various clinical and biochemical parameters for SNP rs4077582 of CYP11A1.

Results: We found significant differences in allele frequency (OR = 0.42, 95% CI = 0.30-0.60, χ² = 16.3693, p = 0.000052) and genotypic frequency (χ² = 26.4376, p = 0.00001) between PCOS women and controls for SNP rs4077582 of CYP11A1. Genotype-phenotype correlation analysis showed a significant difference in FAI (p = 0.005), testosterone (p = 0.001), androstenedione (p = 0.005) and urea (p = 0.049) levels between the three genotypes. No association between SNP rs700519 of CYP19A1 and PCOS was observed.

Conclusion: Our results suggest the role of SNP rs4077582 of CYP11A1 gene in the clinical manifestation of PCOS in Pakistani women.

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CYP11A1 基因的 SNPs rs4077582 和 CYP19A1 基因的 SNPs rs700519 与多囊卵巢综合征的基因组关联。

目的：多囊卵巢综合征（PCOS）是一种影响育龄妇女的复杂内分泌疾病。有多个候选基因被证明与多囊卵巢综合症有关。先前的研究表明，在不同种族人群中，CYP11A1 和 CYP19A1 基因的变异与多囊卵巢综合征相关的激素失调有关。本研究旨在调查巴基斯坦人群中 CYP11A1 的 SNPs rs4077582 和 CYP19A1 的 SNPs rs700519 与 PCOS 发病之间的基因组关联：研究共招募了 280 名受试者，包括 142 名根据鹿特丹标准确诊的多囊卵巢综合征病例和 138 名年龄匹配的对照组。对所有受试者的人体测量、激素和生化参数进行了分析。我们提取了基因组 DNA，并使用 Sanger 测序法对所选 SNPs 进行了基因分型。此外，我们还研究了 CYP11A1 SNP rs4077582 的各种临床和生化指标的基因型与表型相关性分析：我们发现CYP11A1的SNP rs4077582的等位基因频率(OR = 0.42, 95% CI = 0.30-0.60, χ2 = 16.3693, p = 0.000052)和基因型频率(χ2 = 26.4376, p = 0.00001)在PCOS女性和对照组之间存在明显差异。基因型-表型相关分析表明，三种基因型之间的 FAI（p = 0.005）、睾酮（p = 0.001）、雄二酮（p = 0.005）和尿素（p = 0.049）水平存在显著差异。CYP19A1的SNP rs700519与多囊卵巢综合征之间没有关联：我们的研究结果表明，CYP11A1 基因的 SNP rs4077582 在巴基斯坦女性多囊卵巢综合征的临床表现中起着重要作用。

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来源期刊

Endocrine ENDOCRINOLOGY & METABOLISM-

CiteScore

6.50

自引率

5.40%

发文量

295

审稿时长

1.5 months

期刊介绍： Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.