Table 3. Results of family-based and case/control association studies for eight SPA2 single-nucleotide polymorphisms (SNPs).^a .

SNP	Position (pb)	Minor allele	Major allele	Family Extension Results (287 Families)			Case/Control Extension Results (139 Cases/163 Controls)				Case/Control Replication Results (232 cases/149 controls)				Pooled Case/Control Results (371 cases/312 controls)				Combined Results
				Number of informative pedigrees	OT allelea	P-value FBAT	Minor Allele Frequency		OR	P b	Minor Allele Frequency		OR	P b	Minor Allele Frequency		OR (95% CI)	P b	P c
							Cases	Controls			Cases	Controls			Cases	Controls
rs4979459	116,521,487	G	T	140	T	0.005	0.454	0.500	0.83	0.274	0.429	0.463	0.87	0.354	0.438	0.482	0.84 (0.67–1.04)	0.108	9×10−04
rs7849556	116,522,493	C	A	112	A	0.002	0.201	0.266	0.69	0.087	0.197	0.236	0.79	0.233	0.198	0.250	0.74 (0.56–0.99)	0.040	4×10−04
rs10817669	116,522,717	G	A	131	A	2×10−04	0.271	0.326	0.77	0.150	0.248	0.258	0.95	0.765	0.257	0.300	0.82 (0.64–1.06)	0.132	1×10−04
rs10759734	116,536,471	G	A	128	A	0.002	0.195	0.272	0.65	0.028	0.211	0.242	0.84	0.325	0.205	0.257	0.75 (0.58–0.96)	0.023	1×10−04
rs6478105	116,557,006	G	A	88	A	0.064	0.063	0.171	0.33	7×10−05	0.106	0.160	0.62	0.029	0.090	0.166	0.50 (0.36–0.69)	3×10−05	3×10−05
rs10982396	116,558,750	G	C	86	C	0.162	0.064	0.173	0.33	7×10−05	0.109	0.149	0.71	0.114	0.092	0.161	0.53 (0.38–0.74)	2×10−04	3×10−04
rs10733612	116,562,871	T	C	123	C	0.002	0.195	0.270	0.66	0.036	0.202	0.240	0.80	0.260	0.199	0.256	0.72 (0.55–0.95)	0.018	1×10−04
rs4246905	116,593,070	T	C	130	C	0.058	0.254	0.341	0.66	0.022	0.302	0.312	0.95	0.762	0.284	0.327	0.82 (0.65–1.03)	0.090	0.010

^aRefer to Figure 1 for the study design. OT: overtransmitted to affected children allele; OR: odds ratio; CI: confidence interval.

^bAsymptotic P-values of the chi-square test for allele frequencies comparison between cases and controls.

^cAsymptotic P-values for combined family and case/control samples computed with the Cochran-Mantel-Haenszel test.