Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients

• Published in: International journal of cardiology Vol. 121; no. 1; pp. 115 - 116
• Main Authors: García-Castro, Mónica, Reguero, Julián R, Morís, César, Alonso-Montes, Cristina, Berrazueta, José R, Sainz, Rocío, Alvarez, Victoria, Coto, Eliecer
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ireland Ltd 14-09-2007
• Subjects: Adolescent; Adult; Cardiac hypertrophy; Cardiac troponin I; Cardiac troponin T; Cardiomyopathy, Hypertrophic - genetics; Cardiovascular; Case-Control Studies; Exons; Female; Gene Frequency; Gene mutations; Genotype; Humans; Inteins; Male; Middle Aged; Mutation; Polymorphism, Genetic; Sarcomeres - genetics; Spain; Troponin I - genetics; Troponin T - genetics; ά-tropomyosin; Spain; cardiac troponin T gene; TPM1; Cardiac hypertrophy; ά-tropomyosin; ά-tropomyosin gene; troponin I; sudden cardiac death; HCM; Cardiac troponin I; Gene mutations; SCD; TNNT2; hypertrophic cardiomyopathy; TNNI3; Cardiac troponin T
• ISSN: 0167-5273; 1874-1754
• DOI: 10.1016/j.ijcard.2006.08.049

Abstract We sequenced the coding exons of the cardiac troponins T (TNNT2) and I (TNNI3) genes in 115 Spanish HCM-patients (32% with a family history of the disease). Only two (2%) had mutations in the TNNT2 (Arg278 > Cys and Arg92 > Lys). These mutations were associated with variable clinical outcomes. No patient had TNNI3-mutation. We also genotyped these patients and 320 healthy controls for a 5 bp insertion/deletion (I/D) polymorphism in intron 3 of TNNT2. DD-homozygotes for the 5 bp I/D polymorphism were significantly more frequent among the patients (OR = 1.83, 95% CI = 2.10–5.16).