Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population

Table 1 Family-based association test of polymorphisms in AVPR1A promoter region

Marker	Bi-allelic mode	Model	Additive			Dominant			Recessive
Marker	Allele	Freq.	N	Z	p	N	Z	p	N	Z	p
RS3	326	0.062	38	− 0.617	0.537	37	− 0.714	0.475	–	–	–
	328	0.207	96	0.183	0.855	94	− 0.464	0.643	21	0.612	0.107
	330	0.255	104	− 0.254	0.799	95	− 0.981	0.327	37	1.172	0.241
	332	0.202	97	1.044	0.296	91	1.272	0.203	18	− 0.25	0.803
	334	0.186	98	0.447	0.655	94	− 0.621	0.535	25	0.221	0.825
rs7294536	A	0.807	112	2.062	0.039	36	2.043	0.041	36	− 2.043	0.041
	G	0.193	112	− 2.062	0.039	107	− 1.386	0.166	–	–	–
RS1	306	0.087	59	0.367	0.714	58	0.131	0.896	107	1.386	0.166
	310	0.414	152	1.490	0.136	122	2.302	0.021	86	− 0.288	0.773
	314	0.221	124	− 1.121	0.262	119	− 0.323	0.747	31	− 2.090	0.037
	318	0.083	62	− 1.543	0.123	61	− 1.440	0.150	–	–	–
	322	0.057	39	0.000	1.000	39	0.155	0.877	–	–	–
	326	0.130	77	0.211	0.833	76	0.349	0.727	13	− 0.316	0.752
rs10877969	A	0.911	68	4.796	0.001	18	2.177	0.030	67	4.573	< 0.001
	G	0.089	68	− 4.796	0.001	67	− 4.573	< 0.001	18	− 2.177	0.030
	Multi-allelic mode		Df	χ ²	p	Df	χ ²	p	Df	χ ²	p
RS3			5	1.598	0.902	5	4.436	0.489	4	4.133	0.388
rs7294536			1	4.525	0.039	2	5.377	0.068	2	5.377	0.068
RS1			6	4.517	0.607	6	8.425	0.209	3	4.634	0.201
rs10877969			1	23.000	< 0.001	2	23.206	< 0.001	2	23.206	< 0.001

Allele over-transmitted allele, Freq. frequency, N number of informative nuclear families, Z Z score from family-based association test, Df degree of freedom, χ ² χ ² statistics, p, p value

ISSN: 2040-2392