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Nature Research, Scientific Reports, 1(7), 2017

DOI: 10.1038/s41598-017-09249-3



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Majority of human traits do not show evidence for sex-specific genetic and environmental effects

Journal article published in 2017 by Sven Stringer ORCID, Tinca J. C. Polderman ORCID, Danielle Posthuma
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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AbstractSex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories. Monozygotic and dizygotic male and female twin correlations were used to test whether the amount of genetic and environmental influences was equal between the sexes. By comparing dizygotic opposite sex twin correlations with dizygotic same sex twin correlations we could also test whether sex-specific genetic or environmental factors were involved. We observed for only 3% of all trait categories sex differences in the amount of etiological influences. Sex-specific genetic factors were observed for 25% of trait categories, often involving obviously sex-dependent trait categories such as puberty-related disorders. Our findings show that for most traits the number of sex-specific genetic variants will be small. For those traits where we do report sexual dimorphism, sex-specific approaches may aid in future gene-finding efforts.