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15.15. Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

A Ganna , KJH Verweij , MG Nivard , R Maier , R Wedow , AS Busch , A Abdellaoui , S Guo , JF Sathirapongsasuti , 23andMe Research Team , P Lichtenstein , S Lundstrom , N Langstrom , A Auton , KM Harris , GW Beecham , ER Martin , AR Sanders , JRB Perry , BM Neale , BP Zietsch

To read the full abstract: Science 2019;365:eaat7693.These authors performed a genome-wide association study on 493 001 participants of European-ancestry from the USA, UK, and Sweden to identify genes associated with sexual orientation. They found multiple loci implicated in same-sex sexual behavior indicating that, like other behavioral traits, non-heterosexual behavior is polygenic.As many as 4% to 10% of US individuals ...

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ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

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ESPE Yearbook of Paediatric Endocrinology

15.15. Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

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