{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T08:58:23Z","timestamp":1772787503125,"version":"3.50.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,31]],"date-time":"2021-10-31T00:00:00Z","timestamp":1635638400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,31]],"date-time":"2021-10-31T00:00:00Z","timestamp":1635638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Discov"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidemiological studies have demonstrated that the genetic factors partly influence the development of same-sex sexual behavior, but most genetic studies have focused on people of primarily European ancestry, potentially missing important biological insights. Here, we performed a two-stage genome-wide association study (GWAS) with a total sample of 1478 homosexual males and 3313 heterosexual males in Han Chinese populations and identified two genetic loci (rs17320865, Xq27.3, <jats:italic>FMR1NB<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20098.36\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>, OR\u2009=\u20091.29; rs7259428, 19q12, <jats:italic>ZNF536<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20097.58\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>, OR\u2009=\u20090.75) showing consistent association with male sexual orientation. A fixed-effect meta-analysis including individuals of Han Chinese (<jats:italic>n<\/jats:italic>\u2009=\u20094791) and European ancestries (<jats:italic>n<\/jats:italic>\u2009=\u2009408,995) revealed 3 genome-wide significant loci of same-sex sexual behavior (rs9677294, 2p22.1, <jats:italic>SLC8A1<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20091.95\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>; rs2414487, 15q21.3, <jats:italic>LOC145783<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20094.53\u2009\u00d7\u200910<jats:sup>\u22129<\/jats:sup>; rs2106525, 7q31.1, <jats:italic>MDFIC<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20096.24\u2009\u00d7\u200910<jats:sup>\u22129<\/jats:sup>). These findings may provide new insights into the genetic basis of male sexual orientation from a wider population scope. Furthermore, we defined the average ZNF536-immunoreactivity (ZNF536-ir) concentration in the suprachiasmatic nucleus (SCN) as lower in homosexual individuals than in heterosexual individuals (0.011\u2009\u00b1\u20090.001 vs 0.021\u2009\u00b1\u20090.004, <jats:italic>P<\/jats:italic>\u2009=\u20090.013) in a postmortem study. In addition, compared with heterosexuals, the percentage of ZNF536 stained area in the SCN was also smaller in the homosexuals (0.075\u2009\u00b1\u20090.040 vs 0.137\u2009\u00b1\u20090.103, <jats:italic>P<\/jats:italic>\u2009=\u20090.043). More homosexual preference was observed in <jats:italic>FMR1NB<\/jats:italic>-knockout mice and we also found significant differences in the expression of serotonin, dopamine, and inflammation pathways that were reported to be related to sexual orientation when comparing CRISPR-mediated <jats:italic>FMR1NB<\/jats:italic> knockout mice to matched wild-type target C57 male mice.<\/jats:p>","DOI":"10.1038\/s41421-021-00341-7","type":"journal-article","created":{"date-parts":[[2021,10,31]],"date-time":"2021-10-31T18:02:24Z","timestamp":1635703344000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Discovery of new genetic loci for male sexual orientation in Han 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