Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
Table 6
Association analysis of selected SNPs in GJB2 and GJB6 genes with the ARNSHL.
Gene
SNP
Samples
Allele distribution
corrected
OR (95% CI)
Genotype distribution
value
1
2
1 1
1 2
2 2
GJB2
rs3751385
CTL
198 (0.75)
66 (0.25)
4.04 (2.77–5.89)
70 (0.53)
58 (0.44)
4 (0.03)
1 = C 2 = T
Patients
104 (0.43)
140 (0.57)
32 (0.26)
40 (0.33)
50 (0.41)
rs7994748
CTL
58 (0.22)
206 (0.78)
0.004/0.036
2.01 (1.25–3.25)
8 (0.06)
42 (0.32)
82 (0.62)
1 = C 2 = T
Patients
30 (0.12)
214 (0.88)
10 (0.08)
10 (0.08)
102 (0.84)
rs7329857
CTL
262 (0.99)
2 (0.01)
11.70 (2.70–50.61)
130 (0.98)
2 (0.015)
0 (0.00)
1 = C 2 = T
Patients
224 (0.92)
20 (0.08)
102 (0.84)
20 (0.16)
0 (0.00)
rs7987302
CTL
261 (0.99)
3 (0.01)
0.035/0.315
3.72 (1.01–13.68)
129 (0.98)
3 (0.02)
0 (0.00)
0.0323
1 = G 2 = A
Patients
234 (0.96)
10 (0.04)
112 (0.92)
10 (0.08)
0 (0.00)
GJB6
rs7322538
CTL
232 (0.88)
32 (0.12)
0.704
0.87 (0.50–1.50)
101 (0.76)
30 (0.23)
1 (0.01)
0.764
1 = G 2 = A
Patients
218 (0.89)
26 (0.11)
96 (0.79)
26 (0.21)
0 (0.00)
rs9315400
CTL
154 (0.58)
110 (0.42)
0.108
1.33 (0.94–1.89)
43 (0.33)
68 (0.51)
21 (0.16)
0.129
1 = C 2 = T
Patients
125 (0.51)
119 (0.49)
35 (0.29)
55 (0.45)
32 (0.26)
rs877098
CTL
139 (0.53)
125 (0.47)
0.336
1.19 (0.84–1.69)
11 (0.08)
117 (0.89)
4 (0.03)
0.0006
1 = C 2 = T
Patients
122 (0.50)
122 (0.50)
0 (0.00)
122 (1.0)
0 (0.00)
rs945369
CTL
145 (0.55)
119 (0.45)
0.0144/0.126
0.64 (0.45–0.92)
31 (0.23)
83 (0.63)
18 (0.14)
1 = A 2 = C
Patients
160 (0.65)
84 (0.35)
61 (0.50)
38 (0.31)
23 (0.19)
rs7333214
CTL
45 (0.17)
219 (0.83)
0.0003/0.0027
0.46 (0.30–0.70)
4 (0.03)
37 (0.28)
91 (0.69)
0.0004
1 = T 2 = G
Patients
75 (0.31)
169 (0.69)
7 (0.06)
61 (0.50)
54 (0.44)
CI: confidence interval; odds ratio (OR) between groups was determined by logistic regression. : value calculated by chi-squared test or Fisher’s exact test for difference in allele and genotype frequency between cases and controls. * value after Bonferroni’s correction. The allele frequency statistically significant is shown in italic. Significant values are shown in boldface ( value <0.05).
