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The role of a common TNNT2 polymorphism in cardiac hypertrophy.

Abstract：

:We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism with cardiac hypertrophy. The study population consisted of 151 subjects with prominent concentric left ventricular hypertrophy, and 987 healthy subjects recruited from medical checkups (control population). The deletion/deletion genotype tended to be associated with a larger left ventricular mass/height ratio in the HCM population ( p<0.0001). Multiple regression analyses indicated that the left ventricular mass/height ratio was determined ( p<0.0001, R=0.738) by the TNNT2 genotype. Moreover, the frequency of the deletion allele was significantly higher in the hypertrophy population than in the control population ( p<0.0001). In vitro expression study revealed the deletion allele significantly affected the mRNA expression pattern by skipping exon 4 during splicing. In conclusion, TNNT2 deletion allele could be associated with a predisposition to prominent left ventricular hypertrophy.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Komamura K,Iwai N,Kokame K,Yasumura Y,Kim J,Yamagishi M,Morisaki T,Kimura A,Tomoike H,Kitakaze M,Miyatake K

doi

10.1007/s10038-003-0121-4

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

129-133

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-003-0121-4

journal_volume

49

pub_type

杂志文章

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