Mendelian randomization analyses for PCOS: evidence, opportunities, and challenges

Congying Wang; Wei Wu; Haiyan Yang; Zhenhong Ye; Yue Zhao; Jun Liu; Liangshan Mu

doi:10.1016/j.tig.2022.01.005

Mendelian randomization analyses for PCOS: evidence, opportunities, and challenges

Trends Genet. 2022 May;38(5):468-482. doi: 10.1016/j.tig.2022.01.005. Epub 2022 Jan 31.

Authors

Congying Wang¹, Wei Wu², Haiyan Yang¹, Zhenhong Ye³, Yue Zhao⁴, Jun Liu⁵, Liangshan Mu⁶

Affiliations

¹ Reproductive Medicine Center, The First Affiliated Hospital of Wenzhou Medical University, No. 96 Fuxue Road, Wenzhou, 325000, People's Republic of China.
² Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006, People's Republic of China.
³ Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, People's Republic of China; National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital), Beijing, 100191, People's Republic of China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, 100191, People's Republic of China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, 100191, People's Republic of China.
⁴ Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, People's Republic of China; National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital), Beijing, 100191, People's Republic of China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, 100191, People's Republic of China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, 100191, People's Republic of China. Electronic address: zhaoyue0630@163.com.
⁵ Nuffield Department of Population Health, University of Oxford, Oxford, OX37LF, UK. Electronic address: Jun.liu@ndph.ox.ac.uk.
⁶ Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006, People's Republic of China. Electronic address: liangshanmu@zju.edu.cn.

PMID: 35094873
DOI: 10.1016/j.tig.2022.01.005

Abstract

Identifying etiological risk factors is significant for preventing and treating patients with polycystic ovary syndrome (PCOS). Through genetic variation, Mendelian randomization (MR) assesses causal associations between PCOS risk and related exposure factors. This emerging technology has provided evidence of causal associations of anti-Müllerian hormone (AMH) levels, sex hormone-binding globulin (SHBG) levels, menopause age, adiposity, insulin resistance (IR), depression, breast cancer, ovarian cancer, obsessive-compulsive disorder (OCD), and forced vital capacity (FVC) with PCOS, while lacking associations of type 2 diabetes mellitus (T2DM), coronary heart disease (CHD), stroke, anxiety disorder (AD), schizophrenia (SCZ), bipolar disorder (BIP), and offspring birth weight with PCOS. In this review, we briefly introduce the concept and methodology of MR in terms of the opportunities and challenges in this field based on recent results obtained from MR analyses involving PCOS.

Keywords: Mendelian randomization; genetic variant; polycystic ovary syndrome; single nucleotide polymorphism.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Anti-Mullerian Hormone / genetics
Diabetes Mellitus, Type 2* / genetics
Female
Humans
Insulin Resistance* / genetics
Mendelian Randomization Analysis
Polycystic Ovary Syndrome* / complications
Polycystic Ovary Syndrome* / genetics

Substances

Anti-Mullerian Hormone