Exploring genotype-phenotype correlation of FSHR polymorphisms in polycystic ovary syndrome.

IF 3.3 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

BMC Endocrine Disorders Pub Date : 2025-10-23 DOI:10.1186/s12902-025-01979-0

Mandeep Kaur, Sukhjashanpreet Singh, Archana Beri, Anupam Kaur

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引用次数: 0

Abstract

Purpose: Single nucleotide polymorphisms (SNPs) in FSHR were reported to increase PCOS susceptibility. The present study was conducted to analyse the association of FSHR polymorphisms (rs1394205, rs11692782, and rs2349415) with PCOS in Punjab, India.

Methods: A case-control study comprised of 823 women (443 PCOS cases and 380 healthy controls). Along with anthropometric measurements, lipid and hormonal profiles (LH, FSH, and testosterone levels) were also recorded. The genotyping of FSHR polymorphisms was performed with PCR-RFLP method. Continuous variables were compared using the student's t-test while the genetic association analysis was performed utilizing chi-square, binary logistic regression, and odds ratio with a 95% confidence interval. All the statistical analyses were performed on SPSS v.21 and GraphPad 9.

Results: A significant association of rs2349415 polymorphism was observed with PCOS. The recessive model conferred higher PCOS risk (Adjusted OR-1.64, p = 0.012). The genetic association of rs1394205 and rs11692782 remained non-significant (p > 0.05). rs2349415 and rs1394205 were significantly related to dyslipidemia, while rs11692782 had shown a role in the modulation of gonadotropic hormones. Haploview analysis showed a modest linkage disequilibrium in the block of 133 kb, and no association of FSHR haplotypes was identified with PCOS.

Conclusion: The present findings concluded that a polymorphism, rs2349415, has a significant role in PCOS in the Punjabi population. Also, variations in the FSHR significantly modulate lipid metabolism and hormonal levels.

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多囊卵巢综合征FSHR多态性的基因型-表型相关性研究。

目的：研究FSHR中单核苷酸多态性（snp）与PCOS易感性的关系。本研究旨在分析印度旁遮普地区FSHR多态性（rs1394205、rs11692782和rs2349415）与PCOS的关系。方法：823例女性（443例PCOS患者，380例健康对照）进行病例对照研究。除了人体测量外，还记录了脂质和激素谱（LH， FSH和睾酮水平）。采用PCR-RFLP方法对FSHR多态性进行基因分型。连续变量比较采用学生t检验，遗传关联分析采用卡方、二元逻辑回归和95%置信区间的比值比。所有统计分析均使用SPSS v.21和GraphPad 9进行。结果：rs2349415多态性与PCOS存在显著相关性。隐性模型赋予PCOS更高的风险（调整or为1.64,p = 0.012）。rs1394205和rs11692782的遗传关联不显著（p < 0.05）。Rs2349415和rs1394205与血脂异常显著相关，而rs11692782在促性腺激素调节中发挥作用。单倍型分析显示，在133 kb区域存在适度的连锁不平衡，未发现FSHR单倍型与PCOS存在关联。结论：rs2349415多态性在旁遮普人群PCOS中起重要作用。此外，FSHR的变化显著调节脂质代谢和激素水平。

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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来源期刊

BMC Endocrine Disorders ENDOCRINOLOGY & METABOLISM-

CiteScore

4.40

自引率

0.00%

发文量

280

审稿时长

>12 weeks

期刊介绍： BMC Endocrine Disorders is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of endocrine disorders, as well as related molecular genetics, pathophysiology, and epidemiology.