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

Table 3 Family based association study of CLDN23 and MRPS18CP2 in A1555G families.

Gene	Marker	Genotype	Freq	Fam^#	S	E(S)	Var(S)	Z	P
CLDN23	rs9644774	GG	0.38	5	4.00	4.98	1.32	-0.82	0.41
		GA	0.38	10	7.00	7.40	2.93	-0.24	0.81
		AA	0.24	8	7.00	5.65	2.21	0.91	0.36
	rs11995449	GG	0.56	6	7.00	6.17	2.06	0.58	0.56
		GA	0.36	7	5.00	6.83	2.44	-1.17	0.24
		AA	0.08	2	NA
MRPS18CP2	rs4841072	AA	0.38	8	13.00	8.78	3.48	2.26	0.02*
		AC	0.31	9	6.00	9.28	4.03	-1.63	0.10
		CC	0.31	3	NA
	rs17154962	CC	0.85	5	4.00	6.28	2.00	-1.60	0.10
		CT	0.15	5	7.00	4.55	2.17	1.67	0.09
		TT	0.00	2	NA

SNPs with less than 5 informative families were excluded from the analysis. NA; not applicable.
^# Number of informative families; S, observed transmission of genotype to affected offspring;
E(S), expected transmission under Mendelian inheritance; Var(S), variance; P, two-tailed P value;
*Significant p value < 0.05.

ISSN: 1471-2350