Genetic association studies in female reproduction: from candidate-gene approaches to genome-wide mapping

Han Zhao, Zi-Jiang Chen, Zi‐Jiang Chen
Molecular human reproduction · 2013 · vol. 19(10) , pp. 644–654 · doi:10.1093/molehr/gat040 · PMID:23723134 · W2167157022
review OA: closed CC0 ⤵ 6 in-corpus citations
View on OpenAlex View on PubMed View at publisher

Abstract

Many genetic association studies have been performed to investigate disorders of female reproduction, such as polycystic ovary syndrome, premature ovarian failure and endometriosis. These disorders typically manifest heterogeneously, and their pathogeneses are influenced by polygenic and environmental factors. Researchers evaluating these genetic associations have chosen candidate genes related to hormone action, steroid biosynthesis, inflammatory cytokines and autoimmune factors. Several of these genes have yielded statistically significant associations with female reproductive disorders; however, few associations have been robust and reproducible. Whole-genome association studies generate more reliable and unbiased results and represent a breakthrough in genetic studies of female reproduction. Nevertheless, to date only a very small fraction of the overall heritability has been identified and so further studies are needed.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Polycystic Ovary Syndrome Reproduction Endometriosis Endometriosis Endometriosis Female Gene Frequency Gene Frequency Genetic Predisposition to Disease Genetic Predisposition to Disease Genome-Wide Association Study Humans Polycystic Ovary Syndrome Primary Ovarian Insufficiency Primary Ovarian Insufficiency Reproduction Reproduction

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (100)

Cited by (6)

Source provenance

europepmc
last seen: 2026-06-11T06:19:48.454388+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:18:59.468224+00:00
License: CC0 · commercial use OK