Table 2 Association between genetic variants in pathways and serum urate, hyperuricemia and gout.

From: Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis

Variants	Function	Gene	Effect allele	MAF		_{Serum Urate}			_{Gout vs. HUA}			_{Gout vs. Control}
Variants	Function	Gene	Effect allele	MAF		β	P	P _FDR	OR	P	P _FDR	OR	P	P _FDR
SNP
rs2728121	3utr	PKD2	C	0.45	Male	−11.09	2.67E-06	2.40E-05	0.81	7.53E-03	0.068	0.67	8.50E-09	7.65E-08
					Female	−12.52	0.011	0.101	0.70	0.250	1.000	0.55	0.047	0.421
					Total	−11.18	1.31E-07	1.18E-06	0.81	2.95E-03	0.027	0.66	7.51E-11	6.76E-10
rs13129697	intron	SLC2A9	T	0.47	Male	10.11	1.46E-05	6.55E-05	1.01	0.908	0.908	1.20	0.011	0.019
					Female	9.98	0.026	0.079	1.08	0.884	0.995	1.22	0.572	1.000
					Total	10.43	9.56E-06	4.30E-05	1.01	0.888	0.888	1.19	9.19E-03	0.017
rs2242206	missense	SLC16A9	G	0.40	Male	−0.64	0.921	0.921	1.12	0.130	0.235	1.10	0.201	0.258
					Female	8.82	0.069	0.155	1.22	0.563	1.000	1.54	0.150	0.675
					Total	2.03	0.407	0.524	1.09	0.242	0.364	1.12	0.068	0.101
rs1165165	missense	SLC17A3	T	0.14	Male	7.27	0.045	0.081	0.90	0.339	0.436	0.99	0.960	0.960
					Female	14.43	0.017	0.079	0.81	0.843	1.000	0.93	1.000	1.000
					Total	9.24	3.09E-03	9.26E-03	0.90	0.286	0.368	1.00	0.963	0.963
rs3759053	5upstream	SLC22A11	T	0.06	Male	5.64	0.171	0.256	1.04	0.768	0.864	1.23	0.131	0.197
					Female	10.21	0.340	0.437	0.77	1.000	1.000	0.96	1.000	1.000
					Total	7.11	0.101	0.151	0.94	0.733	0.825	1.14	0.350	0.394
rs1165196	missense	SLC17A1	G	0.19	Male	−8.75	3.88E-03	0.012	0.80	0.046	0.104	0.68	5.07E-05	2.28E-04
					Female	−5.78	0.585	0.585	1.09	0.856	1.000	1.19	0.589	1.000
					Total	−7.31	6.24E-03	0.014	0.79	0.018	0.041	0.71	1.48E-04	6.66E-04
rs11754288	missense	SLC17A4	A	0.17	Male	−5.92	0.044	0.100	0.79	0.031	0.094	0.69	2.38E-04	7.15E-04
					Female	−5.77	0.508	0.572	0.51	0.179	1.000	0.53	0.253	0.760
					Total	−5.72	0.046	0.083	0.77	9.85E-03	0.030	0.71	1.72E-04	5.15E-04
rs1395	missense	SLC5A6	G	0.13	Male	−1.68	0.693	0.780	0.88	0.276	0.414	0.89	0.318	0.357
					Female	7.83	0.145	0.260	0.57	0.317	0.951	0.75	0.672	1.000
					Total	1.72	0.697	0.784	0.79	0.038	0.068	0.87	0.160	0.206
rs2071299	missense	SLC17A2	G	0.32	Male	−1.41	0.549	0.706	0.80	8.76E-03	0.039	0.79	2.17E-03	4.88E-03
					Female	3.77	0.182	0.273	0.92	0.880	1.000	1.05	0.880	1.000
					Total	0.73	0.882	0.882	0.81	5.17E-03	0.023	0.83	7.60E-03	0.017
Pathway
GO:0015075					Male		1.92E-04	3.84E-04		0.208	0.416		6.12E-07	1.22E-06
					Female		0.269	0.538		1.000	1.000		1.000	1.000
					Total		9.42E-06	1.88E-05		0.079	0.158		5.41E-09	1.08E-08
GO:0015291					Male		5.24E-04	5.24E-04		0.277	0.277		1.83E-03	1.83E-03
					Female		0.317	0.317		1.000	1.000		1.000	1.000
					Total		3.44E-04	3.44E-04		0.111	0.111		2.66E-03	2.66E-03

MAF, minor allele frequency in controls. HUA, hyperuricemia. β values for SNP in serum urate were calculated by linear regression adjusted age and gender. P values for SNP in serum urate were calculated by deviance analysis for linear regression adjusted age and gender. P values for SNP in hyperuricemia and gout were calculated by Fisher’s exact test. P_FDR value for SNPs and pathways were multiple corrected by FDR method. P values for pathway were calculated by Simes test.

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Table 2 Association between genetic variants in pathways and serum urate, hyperuricemia and gout.

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