{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T17:57:56Z","timestamp":1777399076791,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T00:00:00Z","timestamp":1692316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871203"],"award-info":[{"award-number":["81871203"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Azoospermia factor C (AZFc) in the male\u2010specific region of Y\u2010chromosome (MSY) presents wide structure variation mainly due to frequent non\u2010allele homologous recombination, leading to significant copy number variation of the AZFc\u2010linked coding sequences involving in spermatogenesis. A large number of studies had been conducted to investigate the association between AZFc deletions and male infertility in certain Y chromosome genetic backgrounds, however, the influence of\u00a0primary AZFc duplication on spermatogenesis remained controversial and the cause of the discrepant outcomes is unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, a total of 1,102 unrelated Han Chinese males without any detectable AZF deletions were recruited from 2014 to 2019, including 411 controls with normozoospermia and 691 patients with idiopathic spermatogenic failure. Using multiple paralog ratio tests (PRTs), the structure duplications were classified by the copy number of the AZFc\u2010linked amplicons and genes. The Y\u2010chromosome haplogroup (Y\u2010hg) was categorized by genetyping of MSY\u2010linked polymorphism loci. The association of primary AZFc duplication with spermatogenic phenotype was investigated in males with the same Y\u2010hg.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Within Y\u2010hg O3<jats:sup>*<\/jats:sup> group, the frequency of the gr\/gr duplication in patients is significantly higher than that of controls (<jats:italic>P<\/jats:italic>\u00a0=\u00a01.29\u00d710<jats:sup>\u22123<\/jats:sup>, odds ratio (OR) 7.64, 95% confidence interval (CI) 1.79\u201332.57). Moreover, Y\u2010hg O3<jats:sup>*<\/jats:sup> males with the gr\/gr duplication presented a significantly lower sperm production compared with non\u2010AZFc duplicated ones (sperm concentration: <jats:italic>P\u00a0=<\/jats:italic>\u00a01.46\u00d710<jats:sup>\u22123<\/jats:sup>; total sperm count: <jats:italic>P\u00a0=<\/jats:italic>\u00a01.82 \u00d710<jats:sup>\u22123<\/jats:sup>). The b2\/b3 duplication were identified clustered in Y\u2010hg C\u03b12*, and the significant difference in the distribution was not observed between patients with spermatogenic failure and controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results suggest that, in the Han Chinese population, the gr\/gr duplication is a predisposing\u00a0genetic factor for spermatogenic impairment in males harboring Y\u2010hg O3<jats:sup>*<\/jats:sup>. Meanwhile, the b2\/b3 duplication may be fixed on\u00a0a yet\u2010unidentified subbranch of Y\u2010hg C\u03b12* without significantly deleterious effect on spermatogenesis. Our findings provide evidence that the difference in the Y\u2010hg composition may cause the discrepancy on the association of AZFc duplication with spermatogenic failure among the studied populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.13510","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T18:47:08Z","timestamp":1692643628000},"page":"561-569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Primary azoospermia factor C duplication associated with spermatogenic impariment: a case\u2013control study based on Y\u2010chromosome haplogrouping in a Han Chinese population"],"prefix":"10.1111","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0478-0131","authenticated-orcid":false,"given":"Shengyu","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyi","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu China"},{"name":"Precision Medicine Center, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunqiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dachang","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaokun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9206-0312","authenticated-orcid":false,"given":"Yuan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China School of medicine Sichuan University  Chengdu 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