The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families.

IF 3.8 3区 医学 Q1 REPRODUCTIVE BIOLOGY
Rongling Wu, Claudia Gragnoli
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引用次数: 0

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder occurring in women of reproductive age. The disease is caused by a complex interplay of genetic and environmental factors including genes encoding components of the hypothalamic-pituitary-adrenal (HPA) axis. We have recently reported the association of melanocortin receptor genes (MC1R, MC2R, MC3R, MC4R, and MC5R) with the risk of type 2 diabetes (T2D) and/or major depressive disorder (MDD). The latter 2 disorders are comorbid with PCOS. In this study, we used microarray to test 12 single nucleotide polymorphisms (SNPs) in the MC1R gene, 10 SNPs in the MC2R gene, 5 SNPs in the MC3R gene, 6 SNPs in the MC4R gene, and 4 SNPs in the MC5R gene in 212 original Italian families with PCOS. We identified 1 SNP in MC1R, 1 SNP in MC2R, 2 SNPs in MC3R, and 2 SNPs in MC5R significantly linked and/or associated to/with the risk of PCOS in Italian families. This is the first study to report the novel implication of melanocortin receptor genes (MC1R, MC2R, and MC5R) in PCOS. MC3R and MC4R were previously reported in PCOS. However, functional studies are needed to validate these results.

在意大利家庭中,黑素皮质素受体基因与多囊卵巢综合征的风险相关。
多囊卵巢综合征(PCOS)是育龄妇女最常见的内分泌疾病。这种疾病是由遗传和环境因素的复杂相互作用引起的,包括编码下丘脑-垂体-肾上腺(HPA)轴成分的基因。我们最近报道了黑素皮质素受体基因(MC1R、MC2R、MC3R、MC4R和MC5R)与2型糖尿病(T2D)和/或重度抑郁症(MDD)风险的关联。后两种疾病与多囊卵巢综合征合并症。在这项研究中,我们使用微阵列检测了212个意大利PCOS家族的MC1R基因的12个单核苷酸多态性(snp), MC2R基因的10个snp, MC3R基因的5个snp, MC4R基因的6个snp和MC5R基因的4个snp。在意大利家庭中,我们发现MC1R中有1个SNP, MC2R中有1个SNP, MC3R中有2个SNP, MC5R中有2个SNP与PCOS风险显著相关。这是首次报道黑素皮质素受体基因(MC1R、MC2R和MC5R)在多囊卵巢综合征中的新意义。MC3R和MC4R先前在PCOS中有报道。然而,需要功能性研究来验证这些结果。
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
Journal of Ovarian Research
Journal of Ovarian Research REPRODUCTIVE BIOLOGY-
CiteScore
6.20
自引率
2.50%
发文量
125
审稿时长
>12 weeks
期刊介绍: Journal of Ovarian Research is an open access, peer reviewed, online journal that aims to provide a forum for high-quality basic and clinical research on ovarian function, abnormalities, and cancer. The journal focuses on research that provides new insights into ovarian functions as well as prevention and treatment of diseases afflicting the organ. Topical areas include, but are not restricted to: Ovary development, hormone secretion and regulation Follicle growth and ovulation Infertility and Polycystic ovarian syndrome Regulation of pituitary and other biological functions by ovarian hormones Ovarian cancer, its prevention, diagnosis and treatment Drug development and screening Role of stem cells in ovary development and function.
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