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Sci Rep. 2017 Dec 7;7(1):16950. doi: 10.1038/s41598-017-15736-4.

Genome-Wide Association Study of Male Sexual Orientation.

Author information

1
Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem Research Institute, Evanston, Illinois, 60201, United States of America. alan.sanders.md@gmail.com.
2
Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois, 60637, United States of America. alan.sanders.md@gmail.com.
3
Department of Human Genetics, University of Miami, Miami, Florida, 33136, United States of America.
4
Department of Psychology, Pennsylvania State University, University Park, Pennsylvania, 16802, United States of America.
5
Department of Psychology, University of Essex, Colchester, England, CO4 3SQ, United Kingdom.
6
Department of Psychiatry, Rush University Medical Center, Chicago, Illinois, 60612, United States of America.
7
Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois, 60637, United States of America.
8
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Elmhurst, New York, 11373, United States of America.
9
Department of Sociomedical Sciences, Mailman School of Public Health, Columbia University, New York, New York, 10027, United States of America.
10
Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem Research Institute, Evanston, Illinois, 60201, United States of America.
11
Department of Psychology, Northwestern University, Evanston, Illinois, 60208, United States of America.

Abstract

Family and twin studies suggest that genes play a role in male sexual orientation. We conducted a genome-wide association study (GWAS) of male sexual orientation on a primarily European ancestry sample of 1,077 homosexual men and 1,231 heterosexual men using Affymetrix single nucleotide polymorphism (SNP) arrays. We identified several SNPs with p < 10-5, including regions of multiple supporting SNPs on chromosomes 13 (minimum p = 7.5 × 10-7) and 14 (p = 4.7 × 10-7). The genes nearest to these peaks have functions plausibly relevant to the development of sexual orientation. On chromosome 13, SLITRK6 is a neurodevelopmental gene mostly expressed in the diencephalon, which contains a region previously reported as differing in size in men by sexual orientation. On chromosome 14, TSHR genetic variants in intron 1 could conceivably help explain past findings relating familial atypical thyroid function and male homosexuality. Furthermore, skewed X chromosome inactivation has been found in the thyroid condition, Graves' disease, as well as in mothers of homosexual men. On pericentromeric chromosome 8 within our previously reported linkage peak, we found support (p = 4.1 × 10-3) for a SNP association previously reported (rs77013977, p = 7.1 × 10-8), with the combined analysis yielding p = 6.7 × 10-9, i.e., a genome-wide significant association.

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