Genome-Wide Association Study of Male Sexual Orientation

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

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 14 / genetics
  • Female
  • Genome-Wide Association Study
  • Homosexuality, Male / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Polymorphism, Single Nucleotide*
  • Receptors, Thyrotropin / genetics
  • X Chromosome Inactivation

Substances

  • Membrane Proteins
  • Receptors, Thyrotropin
  • Slitrk6 protein, human