The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature

被引:19
作者
Becker, Noemie S. A. [1 ]
Verdu, Paul [2 ]
Georges, Myriam [1 ]
Duquesnoy, Philippe [3 ,4 ]
Froment, Alain [1 ,5 ]
Amselem, Serge [3 ,4 ]
Le Bouc, Yves [6 ]
Heyer, Evelyne [1 ]
机构
[1] Univ Paris 07, UMR Ecoanthropol & Ethnobiol 7206, CNRS, MNHN, F-75231 Paris, France
[2] Stanford Univ, Dept Biol, Stanford, CA 94305 USA
[3] INSERM, U933, Paris, France
[4] Univ Paris 06, Paris, France
[5] IRD MNHN, UMR Patrimoines Iocaux 208, Paris, France
[6] INSERM UPMC, Cte Rech UMRS 938, Paris, France
关键词
pygmies; height; human evolution; TRADE-OFFS EXPLAIN; GROWTH-HORMONE; POPULATION-STRUCTURE; STATISTICAL-METHOD; POLYMORPHISM; DIVERSITY; EVOLUTION; INFERENCE; RECEPTOR; LOCI;
D O I
10.1038/ejhg.2012.223
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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 Nzime 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.
引用
收藏
页码:653 / 658
页数:6
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