Genome-wide association study of male sexual orientation

Alan R. Sanders*, Gary W. Beecham, Shengru Guo, Khytam Dawood, Gerulf Rieger, Judith A. Badner, Elliot S. Gershon, Ritesha S. Krishnappa, Alana B. Kolundzija, Jubao Duan, Jianxin Shi, Douglas F. Levinson, Bryan J. Mowry, Ann Olincy, Farooq Amin, C. Robert Cloninger, Dragan M. Svrakic, Jeremy M. Silverman, Nancy G. Buccola, William F. ByerleyDonald W. Black, Robert Freedman, Pablo V. Gejman, J. Michael Bailey, Eden R. Martin

*Corresponding author for this work

Research output: Contribution to journalArticle

18 Scopus citations

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.

Original languageEnglish (US)
Article number16950
JournalScientific reports
Volume7
Issue number1
DOIs
StatePublished - Dec 1 2017

ASJC Scopus subject areas

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    Sanders, A. R., Beecham, G. W., Guo, S., Dawood, K., Rieger, G., Badner, J. A., Gershon, E. S., Krishnappa, R. S., Kolundzija, A. B., Duan, J., Shi, J., Levinson, D. F., Mowry, B. J., Olincy, A., Amin, F., Cloninger, C. R., Svrakic, D. M., Silverman, J. M., Buccola, N. G., ... Martin, E. R. (2017). Genome-wide association study of male sexual orientation. Scientific reports, 7(1), [16950]. https://doi.org/10.1038/s41598-017-15736-4