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. Author manuscript; available in PMC: 2013 May 21.
Published in final edited form as: N Engl J Med. 2012 Feb 16;366(7):619–628. doi: 10.1056/NEJMoa1110186

Table 1.

Subjects with TTN Truncating Variants, According to Cohort.

Type of Mutation Subjects with Dilated
Cardiomyopathy
(N = 312)		 Subjects with Hypertrophic
Cardiomyopathy
(N = 231)		 Controls
(N = 249)		 P Value*
All
Subjects		 Selected
Subjects
number of subjects
Nonsense† 28 0 0 1×10 −10 5×10−11
Frameshift 19 2 2 0.0004 1×10−5
Splicing† 19 1 5 0.001 4×10−6
Copy number 1 0 0 NA NA
Any mutation 67 3 7 <2×10−16 <2×10−16
*

P values were calculated on the basis of either all subjects or selected subjects (those studied by means of next-generation sequencing). Forty subjects with dilated cardiomyopathy who were excluded from TTN sequencing were included in these comparisons, for a total of 352 subjects with dilated cardiomyopathy. The one copy-number mutation was excluded from the calculations.

†

Three nonsense and three splicing mutations each occurred in two subjects with dilated cardiomyopathy. An additional subject with dilated cardiomyopathy had two different splicing mutations.