Abstract
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.
References
Ferrari SL, Deutsch S, Choudhury U, Chevalley T, Bonjour J-P, Dermitzakis ET, Rizzoli R, Antonarakis SE (2004) Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet 74:866–875
Hirschhorn JN (2005) Genetic and genomic approaches to studying stature and pubertal timing. Pediatr Endocrinol Rev 2(Suppl 3):351–354
Mamada M, Yorifuji T, Kurokawa K, Kawai M, Nakahata T (2002) Identification of a novel mutation in FBN1 in a patient with tall stature and ectopia lentis lacking marfanoid habitus. 52nd annual meeting of the American Society of Human Genetics. Am J Hum Genet 71(Suppl):550 (abstract)
Milewicz DM, Grossfield J, Cao S-N, Keilty C, Covitz W, Jewett T (1995) A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 95:2373–2378
Silventoinen K, Sammalisto S, Perola M, Boomsma DI, Cornes BK, Davis C, Dunkel L, De Lange M, Harris JR, Hjelmborg JV, Luciano M, Martin NG, Mortensen J, Nistico L, Pedersen NL, Skytthe A, Spector TD, Stazi MA, Willemsen G, Kaprio J (2003) Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res 6:399–408
Xiong D-H, Xu F-H, Liu P-Y, Shen H, Long J-R, Elze L, Recker RR, Deng H-W (2005) Vitamin D receptor gene polymorphisms are linked to and associated with adult height. J Med Genet 42:228–234
Acknowledgments
The study protocol was approved by the Institutional Review Board of Kyoto University Hospital. This work was supported in part by the following grants. Novo Nordisk Growth Award and a research grant from the Foundation of Growth Science (2004, no. 27).
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Mamada, M., Yorifuji, T., Yorifuji, J. et al. Fibrillin I gene polymorphism is associated with tall stature of normal individuals. Hum Genet 120, 733–735 (2007). https://doi.org/10.1007/s00439-006-0263-5
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DOI: https://doi.org/10.1007/s00439-006-0263-5