. 2012 Jul 26;21(21):4781–4792. doi: 10.1093/hmg/dds301

Table 5.

Family-based quantitative trait analysis at previously implicated CNTNAP2 SNPs for age at first word and phrase for ASD subjects and three models of inheritance, as well as qualitative analysis of ASD risk

SNP	Genotype (risk^a)	Chr	Position	Minor	Major	MAF	Z(ADD)	p(ADD)	Z(DOM)	p(DOM)	Z(REC)	p(REC)
Age-at-first-word
rs1718101^f	R(A)	7	145753721	A	G	0.054	−1.78	0.074	−1.51	0.130	−1.72	0.086
rs7794745^g	W(T)^e	7	146120539	T	A	0.345	1.09	0.276	0.45	0.654	1.36	0.173
rs2710102^h	R(G)	7	147205323	A	G	0.483	1.49	0.136	0.53	0.595	1.69	0.091
rs17236239ⁱ	R(G)	7	147213238	G	A	0.344	−0.81	0.419	−1.14	0.253	0.25	0.805
Age-at-first-phrase
rs1718101^f	R(A)	7	145753721	A	G	0.054	−2.40	0.017^c	−2.42	0.015^c	−0.32	0.752
rs7794745^g	W(T)^e	7	146120539	T	A	0.345	0.12	0.907	0.07	0.945	0.12	0.909
rs2710102^h	R(G)	7	147205323	A	G	0.483	1.08	0.279	0.02	0.984	1.70	0.089
rs17236239ⁱ	R(G)	7	147213238	G	A	0.344	0.37	0.711	−1.17	0.241	2.37	0.018^b
SNP	Genotype (risk^a)	Chr	Position	Minor	Major	MAF	OR (95%CI)	p(ADD)
All ASD
rs1718101^f	R(A)	7	145753721	A	G	0.054	1.25 (1.06–1.49)	0.010^b
rs7794745^g	W(T)^e	7	146120539	T	A	0.345	0.90 (0.79–1.03)	0.120
rs2710102^h	R(G)	7	147205323	A	G	0.483	1.08 (1.00–1.16)	0.045^b
rs17236239ⁱ	R(G)	7	147213238	G	A	0.344	0.95 (0.88–1.03)	0.200
European, higher IQ
rs1718101^f	R(A)	7	145753721	A	G	0.054	2.13 (1.63–2.80)	7.78E-9^d
rs7794745^g	W(T)^e	7	146120539	T	A	0.345	0.86 (0.71–1.04)	0.116
rs2710102^h	R(G)	7	147205323	A	G	0.483	1.02 (0.91–1.15)	0.740
rs17236239ⁱ	R(G)	7	147213238	G	A	0.344	1.05 (0.93–1.19)	0.410

^aRisk allele reported in initial association study.

^bAssociation effect observed in same direction as initial association.

^cAssociation effect observed in opposite direction as initial association.

^dAssociation is initial study.

^eRisk allele for ambiguous SNP (A/T) defined according to minor allele frequency.

Studies are ^fthis study; ^gArking et al. (50); ^hAlarcon et al. (49); ⁱVernes et al. (52).

P-values < 0.1 are italicized, those <0.05 also in bold.