Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association

Table 2

Differences in the allelic frequencies, regarding c.-684_-675del and 14 SNPs, between patient and control samples (chi-square test). ND: not determined: chi-square test could not be performed for SNPs with an expected value <5, or for SNPs which both alleles were observed in only one sample. Four SNPs present statistically significant differences in allelic frequencies between patients and controls (P values <0.05, in bold).

Variant/SNP	Alleles	Patients (𝑛=178 alleles)		Controls	P value
		Observed	Expected	(𝑛=182 alleles)
c.-684_-675del	wt	174	170.18	174	0.162043
	c.-684_-675del	4	7.82	8
rs9550621	c.-484 C	162	165.29	169	0.338941
	c.-484 T	16	12.71	13
rs73431557	c.-410 C	41	26.41	27	0.002089
	c.-410 T	137	151.59	155
rs9552101	c.-369 A	20	19.56	20	0.916103
	c.-369 G	158	158.44	162
c.*1C>T	c.*1 C	177	178	182	ND
	c.*1 T	1	0	0
rs3751385	c.*84 C	129	139.86	143	0.04734
	c.*84 T	49	38.14	39
rs7337074	c.*104 A	174	177.02	181	ND
	c.*104 T	4	0.98	1
rs7329857	c.*111 C	174	177.02	181	ND
	c.*111 T	4	0.98	1
rs55704559	c.*168 A	154	170.18	174	3.33E-09
	c.*168 G	24	7.82	8
rs5030700	c.*931 C	155	169.20	173	9.18E-07
	c.*931 T	23	8.80	9
rs1050960	c.*1067 G	19	19.56	20	0.893155
	c.*1067 T	159	158.44	162
rs7623	c.*1152 A	165	165.29	169	0.93373
	c.*1152 G	13	12.71	13
rs11841182	c.*1197 A	2	0	0	ND
	c.*1197 T	176	178	182
rs7988691	c.*1277 C	178	176.04	180	ND
	c.*1277 T	0	1.96	2
rs11839674	c.*1447 A	2	0	0	ND
	c.*1447 G	176	178	182