原纤蛋白I基因多态性与正常个体的高身材有关。
Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
作者信息
Mamada Mitsukazu, Yorifuji Tohru, Yorifuji Junko, Kurokawa Keiji, Kawai Masahiko, Momoi Toru, Nakahata Tatsutoshi
机构信息
Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606-8507, Japan.
出版信息
Hum Genet. 2007 Jan;120(5):733-5. doi: 10.1007/s00439-006-0263-5. Epub 2006 Sep 26.
In order to test the hypothesis that polymorphisms of the Marfan syndrome gene (FBN1) might affect the stature (height) of normal individuals, we genotyped three exonic SNPs on 428 males, 219 with tall stature (>2 SD) and 209 with normal stature (within +/-1 SD). One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0.0061) with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals.
为了验证马凡氏综合征基因（FBN1）的多态性可能影响正常个体身高这一假说，我们对428名男性进行了三个外显子单核苷酸多态性（SNP）的基因分型，其中219名身材高大（身高超过2个标准差），209名身材正常（身高在正负1个标准差范围内）。外显子15中的一个SNP，即rs8033037，与成人身高呈现显著相关性（P = 0.0061），这表明FBN1是正常个体的“身高基因”之一。
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