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Table 1 DEFA3 gene absence in A1555G patients and control subjects.

From: MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

SAMPLES

Phenotype

DEFA3

NO DEFA3

p-value*

A1555G carriers (n = 213)

Deaf (n = 135)

115 (85%)

20 (15%)

0.678

 

Hearing (n = 78)

69 (88%)

9 (12%)

 

A1555G carriers (n = 213)

Deaf & Hearing

184 (86%)

29 (14%)

0.283

A1555G index cases (n = 55)

Deaf

45 (82%)

10 (18%)

0.697

A1555G linked samples (n = 55)

Deaf & Hearing

52 (95%)

3 (5%)

0.171

Controls (n = 336)

 

294 (87.5%)

42 (12.5%)

 
  1. * Between groups chi-square p-value resulting from the comparison of deaf vs hearing carriers or carriers vs. control population subjects.