Literature DB >> 17024364

Fibrillin I gene polymorphism is associated with tall stature of normal individuals.

Mitsukazu Mamada1, Tohru Yorifuji, Junko Yorifuji, Keiji Kurokawa, Masahiko Kawai, Toru Momoi, Tatsutoshi Nakahata.   

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.

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Year:  2006        PMID： 17024364     DOI： 10.1007/s00439-006-0263-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

Authors:  D M Milewicz; J Grossfield; S N Cao; C Kielty; W Covitz; T Jewett
Journal:  J Clin Invest       Date:  1995-05       Impact factor: 14.808

Review 2.  Genetic and genomic approaches to studying stature and pubertal timing.

Authors:  Joel N Hirschhorn
Journal:  Pediatr Endocrinol Rev       Date:  2005-02

3.  Vitamin D receptor gene polymorphisms are linked to and associated with adult height.

Authors:  D-H Xiong; F-H Xu; P-Y Liu; H Shen; J-R Long; L Elze; R R Recker; H-W Deng
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

4.  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.

Authors:  Serge L Ferrari; Samuel Deutsch; Urmila Choudhury; Thierry Chevalley; Jean-Philippe Bonjour; Emmanouil T Dermitzakis; Rene Rizzoli; Stylianos E Antonarakis
Journal:  Am J Hum Genet       Date:  2004-04-07       Impact factor: 11.025

5.  Heritability of adult body height: a comparative study of twin cohorts in eight countries.

Authors:  Karri Silventoinen; Sampo Sammalisto; Markus Perola; Dorret I Boomsma; Belinda K Cornes; Chayna Davis; Leo Dunkel; Marlies De Lange; Jennifer R Harris; Jacob V B Hjelmborg; Michelle Luciano; Nicholas G Martin; Jakob Mortensen; Lorenza Nisticò; Nancy L Pedersen; Axel Skytthe; Tim D Spector; Maria Antonietta Stazi; Gonneke Willemsen; Jaakko Kaprio
Journal:  Twin Res       Date:  2003-10
  5 in total
  3 in total

1.  Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

Authors:  Saied A Jaradat; Lama A Abujamous; Ali A Al-Hawamdeh; Khaldoon M Alawneh; Tamara A Rawashdeh; Zaher M Jaradat
Journal:  Int J Clin Exp Med       Date:  2015-10-15

2.  Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.

Authors:  Anke Tönjes; Moritz Koriath; Dorit Schleinitz; Kerstin Dietrich; Yvonne Böttcher; Nigel W Rayner; Peter Almgren; Beate Enigk; Olaf Richter; Silvio Rohm; Antje Fischer-Rosinsky; Andreas Pfeiffer; Katrin Hoffmann; Knut Krohn; Gabriela Aust; Joachim Spranger; Leif Groop; Matthias Blüher; Peter Kovacs; Michael Stumvoll
Journal:  Hum Mol Genet       Date:  2009-09-03       Impact factor: 6.150

Review 3.  Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Authors:  Octavio D Reyes-Hernández; Carmen Palacios-Reyes; Sonia Chávez-Ocaña; Enoc M Cortés-Malagón; Patricia Garcia Alonso-Themann; Víctor Ramos-Cano; Julián Ramírez-Bello; Mónica Sierra-Martínez
Journal:  BMC Musculoskelet Disord       Date:  2016-02-15       Impact factor: 2.362
  3 in total

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