Elucidating the Molecular Genetics of Genes CYP19A1, CYP17, and FSHR Variants Association in Polycystic Ovarian Syndrome

IF 0.6 4区生物学 Q4 GENETICS & HEREDITY Russian Journal of Genetics Pub Date : 2024-04-08 DOI:10.1134/s1022795424030049

K. Bashir, A. Anum, I. Idrees, H. T. Manzoor

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Abstract

Association of genes CYP19A1 (rs2414096), CYP17 (rs743572) and FSHR (rs2268361) variants on the susceptibility of developing PCOS was studied. This disease is most common problem faced by Pakistani females. The incidence of this disease has increased last couple of decades but no work on genes involved in PCOS has been done so far in Pakistan. Blood samples of 300 subjects including 150 PCOS cases and 150 age-matched controls were collected from different hospitals of Pakistan. DNA extraction from whole blood was done followed by DNA amplification. Data was collected on a pre-designed questionnaire for age, BMI, smoking status, and family history. Statistical analysis was done using different statistical tools. Homozygous mutant (GG) of rs2414096 SNP of CYP19A1 gene contributes significantly to the decreased risk of PCOS (OR = 0.24; 95% CI = 0.15–0.40; P = 0.0001), while heterozygous (AG) of the same SNP shows positive association with increased PCOS risk up to 2.62 folds (OR = 2.62; 95% CI = 1.60–4.30; P = 0.0001). Combined genotype model (GG+AG) of this SNP again shows significant association with decreased PCOS risk (OR = 0.44; 95% CI = 0.24–0.81; P = 0.0086). In Case of rs743572 polymorphism of CYP17 gene, homozygous mutant (CC) significantly increased the risk of PCOS by 3.2-fold (OR = 3.22; 95% CI = 1.94–4.34; p = 0.0001) while heterozygous (TC) of the same SNP significantly decreased the risk of PCOS (OR = 0.34; 95% CI = 0.20–0.58; p = 0.0001). In rs2268361 variants of FSHR gene, homozygous mutant (TT) significantly decreases the risk of PCOS and plays a protective role (OR = 0.52; 95% CI = 0.33–0.84; p = 0.0072) while heterozygous (CT) of the same SNP significantly increases the risk of PCOS up to 3 folds (OR = 3.46; 95% CI = 1.97–6.07; p = 0.0001). An increased risk of PCOS is associated with the rs2414096, rs743572 and rs2268361 genotype of genes CYP19A1, CYP17 and FSHR respectively.

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阐明多囊卵巢综合征中 CYP19A1、CYP17 和 FSHR 基因变异的分子遗传学关联

摘要研究了基因 CYP19A1（rs2414096）、CYP17（rs743572）和 FSHR（rs2268361）变异与多囊卵巢综合征易感性的关系。多囊卵巢综合征是巴基斯坦女性面临的最常见问题。近几十年来，这种疾病的发病率有所上升，但迄今为止，巴基斯坦尚未开展过与多囊卵巢综合症有关的基因研究。研究人员从巴基斯坦不同的医院收集了 300 名受试者的血样，其中包括 150 名多囊卵巢综合征病例和 150 名年龄匹配的对照者。从全血中提取 DNA，然后进行 DNA 扩增。通过预先设计的问卷收集了有关年龄、体重指数、吸烟状况和家族史的数据。使用不同的统计工具进行了统计分析。CYP19A1基因的rs2414096 SNP的同源突变体（GG）显著降低了多囊卵巢综合征的风险（OR = 0.24; 95% CI = 0.15-0.40; P = 0.0001），而同一SNP的杂合体（AG）则与多囊卵巢综合征风险的增加呈正相关，最高可达2.62倍（OR = 2.62; 95% CI = 1.60-4.30; P = 0.0001）。该 SNP 的组合基因型模型（GG+AG）再次显示与 PCOS 风险降低有显著关联（OR = 0.44；95% CI = 0.24-0.81；P = 0.0086）。在 CYP17 基因的 rs743572 多态性中，同卵突变体（CC）显著增加 PCOS 风险 3.2 倍（OR = 3.22；95% CI = 1.94-4.34；P = 0.0001），而同一 SNP 的杂合体（TC）显著降低 PCOS 风险（OR = 0.34；95% CI = 0.20-0.58；P = 0.0001）。在FSHR基因的rs2268361变异中，同源突变体（TT）会明显降低多囊卵巢综合征的风险，并起到保护作用（OR = 0.52; 95% CI = 0.33-0.84; p = 0.0072），而同一SNP的杂合体（CT）会明显增加多囊卵巢综合征的风险达3倍（OR = 3.46; 95% CI = 1.97-6.07; p = 0.0001）。多囊卵巢综合症风险的增加分别与 CYP19A1、CYP17 和 FSHR 基因的 rs2414096、rs743572 和 rs2268361 基因型有关。

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来源期刊

Russian Journal of Genetics 生物-遗传学

CiteScore

1.00

自引率

33.30%

发文量

126

审稿时长

1 months

期刊介绍： Russian Journal of Genetics is a journal intended to make significant contribution to the development of genetics. The journal publishes reviews and experimental papers in the areas of theoretical and applied genetics. It presents fundamental research on genetic processes at molecular, cell, organism, and population levels, including problems of the conservation and rational management of genetic resources and the functional genomics, evolutionary genomics and medical genetics.