Genetic and hormonal insights into PCOS: Role of FSHR rs6166 and LHCGR rs2293275 polymorphisms

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-07-30 DOI:10.1016/j.genrep.2025.102307

Dolly J. Patel , Kinnari N. Mistry , Jasmine Gujarathi , Piyush Chudasama

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引用次数: 0

Abstract

Background

PCOS (Polycystic ovary syndrome) is an intricate endocrine condition characterized by abnormal metabolic processes, hormonal inconsistencies, and higher estrogen production. This study assessed the biochemical, hormonal, and genetic differences between individuals with PCOS and healthy controls, focusing on the FSHR (Follicle-stimulating hormone receptor) rs6166 and LHCGR (luteinizing hormone-chorio-gonadotrophin receptor) rs2293275 polymorphisms.

Methods

A comparative cross-sectional study was conducted with patients diagnosed with PCOS and healthy controls. Fasting glucose, insulin, SHBG, LH, FSH, estradiol, progesterone, total testosterone, and DHEAS levels were measured in both groups. Genotyping of FSHR (rs6166) and LHCGR (rs2293275) was conducted using PCR-RFLP. Statistical analyses included odds ratios, genotype distributions, and hormone-genotype interaction analysis.

Results

Participants with PCOS exhibited significantly higher levels of fasting glucose, insulin, LH, testosterone, and DHEAS, as well as lower levels of SHBG and FSH. The AA genotype of FSHR rs6166 is more common in patients with PCOS and is associated with a higher LH: FSH ratio, indicating a gonadotropin imbalance. In contrast, the GG genotype of LHCGR rs2293275 was associated with increased LH, decreased FSH, and higher testosterone levels, suggesting its role in hyperandrogenism.

Conclusion

This study emphasizes the notable endocrine and genetic differences in PCOS, implicating FSHR rs6166 and LHCGR rs2293275 polymorphisms in the susceptibility and severity of the disease. The AA genotype of FSHR is primarily associated with gonadotropic dysfunction, whereas the GG genotype of LHCGR is associated with increased androgen excess. These findings highlight the importance of combining genetic screening with hormonal profiling for better diagnosis and personalized management of PCOS.

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FSHR rs6166和LHCGR rs2293275多态性在多囊卵巢综合征中的作用

多囊卵巢综合征（pcos）是一种复杂的内分泌疾病，其特征是代谢过程异常、激素不一致和雌激素分泌过高。本研究评估了PCOS个体与健康对照之间的生化、激素和遗传差异，重点关注促卵泡激素受体（FSHR） rs6166和促黄体生成素-绒毛膜-促性腺激素受体（LHCGR） rs2293275多态性。方法对诊断为PCOS的患者与健康对照者进行对比横断面研究。测定两组患者的空腹血糖、胰岛素、SHBG、LH、FSH、雌二醇、孕酮、总睾酮和DHEAS水平。采用PCR-RFLP方法对FSHR （rs6166）和LHCGR （rs2293275）进行基因分型。统计分析包括优势比、基因型分布和激素-基因型相互作用分析。结果多囊卵巢综合征患者的空腹血糖、胰岛素、LH、睾酮和DHEAS水平明显升高，SHBG和FSH水平较低。FSHR rs6166的AA基因型在PCOS患者中更为常见，且与较高的LH: FSH比值相关，提示促性腺激素失衡。相比之下，LHCGR rs2293275的GG基因型与LH升高、FSH降低和睾酮水平升高相关，提示其在高雄激素症中起作用。结论本研究强调PCOS存在显著的内分泌和遗传差异，FSHR rs6166和LHCGR rs2293275多态性与PCOS的易感性和严重程度有关。FSHR的AA基因型主要与促性腺功能障碍有关，而LHCGR的GG基因型则与雄激素过量增加有关。这些发现强调了基因筛查与激素谱分析相结合对于多囊卵巢综合征更好的诊断和个性化治疗的重要性。

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

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.