Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
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.
Mamada
Mitsukazu
M
Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606-8507, Japan.
Yorifuji
Tohru
T
Yorifuji
Junko
J
Kurokawa
Keiji
K
Kawai
Masahiko
M
Momoi
Toru
T
Nakahata
Tatsutoshi
T
D001827:Body Height / Q000235:genetics*; D005091:Exons; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines