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Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause DCM, the role of genetic testing in clinical practice is not well defined. Mutations in the troponin T (<jats:italic>TNNT2<\/jats:italic>) gene represent an important subset of known disease-causing mutations associated with DCM. Therefore, the aim of the present study was to determine the genetic variations in<jats:italic>TNNT2<\/jats:italic>and the associations of those variations with DCM in Chinese patients.<jats:italic>Methods<\/jats:italic>. An approximately 4\u2009kb fragment of the<jats:italic>TNNT2<\/jats:italic>gene was isolated from 103 DCM patients and 192 healthy controls and was analyzed by DNA sequence analysis for genetic variations.<jats:italic>Results<\/jats:italic>. A total of 6<jats:italic>TNNT2<\/jats:italic>mutations were identified in 99 patients, including a G321T missense mutation (Leu84Phe) and 5 novel intronic mutations. Alleles of two novel SNPs (c.<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mn>192<\/mml:mn><mml:mo>+<\/mml:mo><mml:mn>353<\/mml:mn><\/mml:math>C<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mrow><mml:mo>&gt;<\/mml:mo><\/mml:mrow><\/mml:math>A, OR<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mo>=<\/mml:mo><mml:mn>0.095<\/mml:mn><\/mml:math>, 95% CI:<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mn>0.013<\/mml:mn><mml:mtext>\u2013<\/mml:mtext><mml:mn>0.714<\/mml:mn><\/mml:math>,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.022<\/mml:mn><\/mml:math>; c.<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\"><mml:mn>192<\/mml:mn><mml:mo>+<\/mml:mo><mml:mn>463<\/mml:mn><\/mml:math>G<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M7\"><mml:mrow><mml:mo>&gt;<\/mml:mo><\/mml:mrow><\/mml:math>A, OR<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M8\"><mml:mo>=<\/mml:mo><mml:mn>0.090<\/mml:mn><\/mml:math>, 95% CI:<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M9\"><mml:mn>0.012<\/mml:mn><mml:mtext>\u2013<\/mml:mtext><mml:mn>0.675<\/mml:mn><\/mml:math>,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M10\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.019<\/mml:mn><\/mml:math>) and SNP rs3729843 (OR<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M11\"><mml:mo>=<\/mml:mo><mml:mn>1.889<\/mml:mn><\/mml:math>, 95% CI:<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M12\"><mml:mn>1.252<\/mml:mn><mml:mtext>\u2013<\/mml:mtext><mml:mn>2.852<\/mml:mn><\/mml:math>;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M13\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.002<\/mml:mn><\/mml:math>) were significantly correlated with DCM.<jats:italic>Conclusions<\/jats:italic>. These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M14\"><mml:mn>192<\/mml:mn><mml:mo>+<\/mml:mo><mml:mn>353<\/mml:mn><\/mml:math>C<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M15\"><mml:mrow><mml:mo>&gt;<\/mml:mo><\/mml:mrow><\/mml:math>A, c.<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M16\"><mml:mn>192<\/mml:mn><mml:mo>+<\/mml:mo><mml:mn>463<\/mml:mn><\/mml:math>G<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M17\"><mml:mrow><mml:mo>&gt;<\/mml:mo><\/mml:mrow><\/mml:math>A) in<jats:italic>TNNT2<\/jats:italic>gene might be associated with DCM in the Chinese population.<\/jats:p>","DOI":"10.1155\/2014\/907360","type":"journal-article","created":{"date-parts":[[2014,7,7]],"date-time":"2014-07-07T17:07:59Z","timestamp":1404752879000},"page":"1-7","source":"Crossref","is-referenced-by-count":5,"title":["Cardiac Troponin T 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