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10.1038/ejhg.2012.223

http://scihub22266oqcxt.onion/10.1038/ejhg.2012.223
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C3658195!3658195!23047741
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suck abstract from ncbi


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pmid23047741      Eur+J+Hum+Genet 2013 ; 21 (6): 653-8
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  • The role of GHR and IGF1 genes in the genetic determination of African pygmies short stature #MMPMID23047741
  • Becker NS; Verdu P; Georges M; Duquesnoy P; Froment A; Amselem S; Le Bouc Y; Heyer E
  • Eur J Hum Genet 2013[Jun]; 21 (6): 653-8 PMID23047741show ga
  • African pygmies are at the lower extreme of human variation in adult stature and many evolutionary hypotheses have been proposed to explain this phenotype. We showed in a recent study that the difference in average stature of about 10?cm observed between contemporary pygmies and neighboring non-pygmies has a genetic component. Nevertheless, the genetic basis of African pygmies' short stature remains unknown. Using a candidate-gene approach, we show that intronic polymorphisms in GH receptor (GHR) and insulin-like growth factor 1 (IGF1) genes present outlying values of the genetic distance between Baka pygmies and their non-pygmy Nzimé neighbors. We further show that GHR and IGF1 genes have experienced divergent natural selection pressures between pygmies and non-pygmies throughout evolution. In addition, these SNPs are associated with stature in a sample composed of 60 pygmies and 30 non-pygmies and this association remains significant when correcting for population structure for the GHR locus. We conclude that the GHR and IGF1 genes may have a role in African pygmies' short stature. The use of phenotypically contrasted populations is a promising strategy to identify new variants associated with complex traits in humans.
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