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多囊卵巢综合征女性促黄体生成素受体基因(rs2293275)多态性中促黄体生成素水平的病例对照研究

A Case-Control Study of the Luteinizing Hormone Level in Luteinizing Hormone Receptor Gene (rs2293275) Polymorphism in Polycystic Ovarian Syndrome Females.

作者信息

Atoum Manar Fayiz, Alajlouni Mai Mahamad, Alzoughool Foad

机构信息

Department of Medical Laboratory Sciences, Applied Medical Sciences, The Hashemite University, Zarqa, Jordan.

MSc Medical Laboratory Sciences, Al Burqan Drug Store, Amman, Jordan.

出版信息

Public Health Genomics. 2022 Mar 29:1-9. doi: 10.1159/000521971.

DOI:10.1159/000521971
PMID:35350019
Abstract

BACKGROUND

Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder characterized by chronic anovulation, infertility, polycystic ovaries, and hyperandrogenic signs.

OBJECTIVE

The aim of this study was to determine the association of luteinizing hormone/chorionic gonadotropin hormone receptor LHCGR polymorphism (rs2293275) with oligomenorrhea, amenorrhea, hirsutism, acne, infertility, LH, LH/FSH ratio, and body mass index (BMI) among PCOS females.

METHODS

This genetic case-control study recruited 55 PCOS and 55 control females, diagnosed based on the Rotterdam criteria. LH and FSH were measured by the Roche cobas c 502 automated analyzer. Genotypic analysis was carried out using the polymerase chain reaction-restriction fragment length polymorphism and restriction endonuclease digestion.

RESULTS

BMI was higher for PCOS patients (28.5 ± 6.59) compared to controls (25.1 ± 5.77), and ovulatory dysfunction was seen among 90% of PCOS females. Oligomenorrhea was common in PCOS (73%), and hirsutism and acne were detected in PCOS (80% and 40%; respectively). LH ≥10 were recoded among 51%, while LH/FSH ≥1.5 was recorded among 33% PCOS females. There is a statistical difference between rs2293275 polymorphism in the AG genotype between PCOS patients and controls. PCOS patients have a significantly higher mean LH level compared to controls (8.36 ± 4.86 and 5.67 ± 2.51, respectively) and showed higher LH/FSH value (1.46 ± 0.81) compared to (0.87 ± 0.30) controls. GG and AG genotypes of LHCGR showed statistically significant higher LH (8.22 ± 4.11; 9.02 ± 3.87) and LH/FSH values (1.57 ± 0.56; 1.64 ± 0.89) compared to controls.

CONCLUSION

LHCGR (rs2293275) GA and GG genetic variants could modulate the hormonal levels of PCOS LH levels and the LH/FSH ratio and associated with hirsutism, oligomenorrhea, BMI, and LH/FSH ratio as risk factors.

摘要

背景

多囊卵巢综合征(PCOS)是一种常见的异质性疾病,其特征为慢性无排卵、不孕、多囊卵巢以及高雄激素体征。

目的

本研究旨在确定黄体生成素/绒毛膜促性腺激素受体LHCGR基因多态性(rs2293275)与PCOS女性的月经过少、闭经、多毛、痤疮、不孕、促黄体生成素(LH)、LH/FSH比值以及体重指数(BMI)之间的关联。

方法

这项基因病例对照研究招募了55例PCOS女性和55例对照女性,根据鹿特丹标准进行诊断。使用罗氏cobas c 502自动分析仪测量LH和促卵泡生成素(FSH)。采用聚合酶链反应-限制性片段长度多态性和限制性内切酶消化进行基因分型分析。

结果

与对照组(25.1±5.77)相比,PCOS患者的BMI更高(28.5±6.59),90%的PCOS女性存在排卵功能障碍。月经过少在PCOS中很常见(73%),PCOS中检测到多毛和痤疮(分别为80%和40%)。51%的PCOS女性LH≥10,33%的PCOS女性LH/FSH≥1.5。PCOS患者和对照组之间AG基因型的rs2293275多态性存在统计学差异。与对照组相比,PCOS患者的平均LH水平显著更高(分别为8.36±4.86和5.67±2.51)且LH/FSH值更高(1.46±0.81),而对照组为(0.87±0.30)。与对照组相比,LHCGR的GG和AG基因型显示LH(8.22±4.11;9.02±3.87)和LH/FSH值(1.57±0.56;1.64±0.89)具有统计学显著升高。

结论

LHCGR(rs2293275)的GA和GG基因变异可能调节PCOS患者的LH水平和LH/FSH比值的激素水平,并与多毛、月经过少、BMI以及LH/FSH比值作为危险因素相关。

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