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

Table 2 Haplotype analysis of polymorphisms in promoter region of AVPR1A

Marker	Biallelic mode	Model	Additive			Dominant			Recessive
Marker	Haplotype	Freq.	N	Z	p	N	Z	p	N	Z	p
1-3	330-310	0.135	70	− 0.753	0.452	69	− 0.770	0.441	11	− 0.164	0.869
2-4	A-A	0.736	133	3.826	< 0.001	55	3.651	< 0.001	118	2.655	0.001
	A-G	0.064	48	− 3.586	< 0.001	48	− 3.311	< 0.001	–	–	–
1-2	330-A	0.235	109	− 0.230	0.818	99	− 0.937	0.349	33	1.212	0.225
2-3	A-310	0.384	145	1.639	0.101	116	2.112	0.035	72	0.125	0.900
3-4	310-A	0.367	149	2.552	0.011	124	2.995	0.003	72	0.564	0.573
1-2-3	330-A-310	0.125	65	− 0.891	0.373	65	− 1.045	0.296	10	0.174	0.862
2-3-4	A-310-A	0.352	142	2.505	0.012	118	2.650	0.008	61	0.878	0.380
	Multi-allelic mode		Df	χ²	p	Df	χ²	p	Df	χ²	p
1-3			6	6.538	0.366	6	5.425	0.491	–	–	–
2-4			3	24.302	< 0.001	3	20.364	< 0.001	2	9.650	0.008
1-2			6	3.859	0.696	6	3.779	0.707	3	6.899	0.075
2-3			5	5.594	0.348	5	7.474	0.188	2	2.148	0.341
3-4			5	18.501	0.002	5	18.934	0.002	2	4.027	0.134
1-2-3			6	7.455	0.281	6	6.676	0.352	–	–	–
2-3-4			5	19.869	0.001	5	17.603	0.003	2	2.612	0.271

1 RS3 (complex), 2 rs7294536, 3 RS1 (GATA), 4 rs10877969, N number of informative nuclear families, Df degree of freedom, χ ² χ ² statistics, p p value

ISSN: 2040-2392