Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population

Abstract

Polycystic ovary syndrome (PCOS) is a frequent complex disorder with an ill-defined etiology. Genetic factors seem rather effective at the occurrence of the disease, however, the evidence of established various studies results are unsatisfied. We aimed to make a contribution to the genetic baseline of the disease by investigating melanocortin 3 receptor gene polymorphism in affected patients. 101 PCOS patients and 162 age-matched healthy volunteered control subjects recruited to the study. PCOS patients classified according to their BMI class and insulin resistance situation. Anthropometric measurements, physical examination results, laboratory findings, and hormone levels were recorded for each participant and analysis of two SNPs on the MC3R gene; rs3746619 and rs3827103 were performed. Although no significant difference was observed in rs3827103 polymorphism between PCOS patients and controls; rs3746619 polymorphism was determined associated with PCOS in the heritage of dominant (AA + AC) and co-dominant (AA) genotypes. Two polymorphisms did not found related to obesity and insulin resistance in PCOS subgroups analysis. MC3R gene rs 3746619 polymorphism was found associated with PCOS in the Turkish population and may make a contribution to the genetic baseline of the disease.

摘要

多囊卵巢综合征（PCOS）是一种常见的复杂疾病, 病因不明确。遗传因素在疾病发生时似乎起重要作用, 然而, 已有的各种研究结果的证据并不令人满意。我们旨在通过评估受影响患者的黑皮质素3受体基因多态性, 为该疾病的遗传水平做出贡献。招募了101名PCOS患者和162名年龄匹配的健康自愿对照受试者。PCOS患者根据其BMI分级和胰岛素抵抗情况进行分类, 记录每位参与者的人体测量值、体格检查结果、实验室检查结果和激素水平, 并分析MC3R基因上的两个SNP：rs3746619和rs3827103。尽管在PCOS患者和对照之间没有观察到rs3827103多态性的显著差异, 但rs3746619多态性被确定与PCOS显性（AA + AC）和共显性（AA）基因型的遗传相关。在PCOS亚组分析中未发现两种多态性与肥胖和胰岛素抵抗相关, 发现MC3R基因rs 3746619多态性与土耳其人群中发生PCOS相关, 并且可能对该疾病的遗传水平有贡献。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Polycystic ovary syndrome
• melanocortin 3 receptor gene polymorphism
• insulin resistance
• obesity

Ethical approval

The study was approved by the Ethical Committee of our institute.

Disclosure statement

The authors declare that they have no conflict and interest.

Informed consent

All participants were informed about the research protocol and they declared their voluntary attendance with a signed written assent.

Additional information

Funding

This study was funded by the Scientific Research Project of Diskapi Yildirim Beyazit Training and Research Hospital.