Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout

Rebekah Wrigley; Amanda J. Phipps-Green; Ruth K. Topless; Tanya J. Major; Murray Cadzow; Philip Riches; Anne-Kathrin Tausche; Matthijs Janssen; Leo A. B. Joosten; Tim L. Jansen; Alexander So; Jennie Harré Hindmarsh; Lisa K. Stamp; Nicola Dalbeth; Tony R. Merriman

doi:10.1186/s13075-020-2136-z

Table 1 Association analysis of rs2231142, rs10011796 (ABCG2) and rs11942223 (SLC2A9) in European and NZ Polynesian sample sets

From: Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout

SNP	Raw N	Genotype, N (%)^†			Effect allele, N (%)	Gout vs. HU*^ OR (95% CI), P	Gout vs. All Controls* OR (95% CI), P	HU vs. NU* OR, 95% CI, P
rs2231142		GG	GT	TT	T
European gout	1637	1006 (61.5)	551 (33.7)	80 (7.5)	711 (21.7)	1.81 (1.60–2.06), 3.0E−20 1.85 (1.63–2.11), 3.8E−21	2.42 (2.18–2.68), 1.9E−64	–
European HU	2378	1762 (74.1)	577 (24.3)	39 (1.6)	655 (13.8)	1.81 (1.60–2.06), 3.0E−20 1.85 (1.63–2.11), 3.8E−21		1.56 (1.41–1.72), 1.7E−18
European NU	11,604	9428 (81.2)	2053 (17.7)	123 (1.1)	2299 (9.1)			1.56 (1.41–1.72), 1.7E−18
WP^# gout	369	96 (26.0)	189 (51.2)	84 (22.8)	357 (48.4)	1.96 (1.30–3.00), 1.6E−03 1.77 (1.14–2.80), 0.012^‡	2.36 (1.73–3.26), 1.1E−07	–
WP HU	88	48 (54.6)	29 (33.0)	11 (12.5)	51 (29.0)	1.96 (1.30–3.00), 1.6E−03 1.77 (1.14–2.80), 0.012^‡		1.52 (0.94–2.50), 0.091^‡
WP NU	146	84 (57.5)	52 (35.6)	10 (6.9)	72 (24.7)	–		1.52 (0.94–2.50), 0.091^‡
EP^# gout	543	436 (80.3)	106 (19.5)	1 (0.2)	108 (9.9)	1.99 (1.05–4.05), 0.044 2.02 (1.05–4.16) 0.043^‡	2.54 (1.66–3.97), 3.4E−05	–
EP HU	114	101 (88.6)	13 (11.4)	0 (0.0)	13 (5.7)	1.99 (1.05–4.05), 0.044 2.02 (1.05–4.16) 0.043^‡		1.41 (0.65–2.93), 0.37^‡
EP NU	348	315 (90.5)	32 (9.2)	1 (0.3)	34 (4.9)			1.41 (0.65–2.93), 0.37^‡
rs10011796		CC	CT	TT	T
European gout	1580	339 (21.5)	764 (48.4)	477 (30.2)	1718 (54.4)	1.39 (1.26–1.53), 2.0E−11 1.39 (1.26–1.53), 3.5E−11	1.55 (1.44–1.69), 1.3E−27	–
European HU	2422	666 (27.5)	1208 (49.9)	548 (22.6)	2304 (47.6)	1.39 (1.26–1.53), 2.0E−11 1.39 (1.26–1.53), 3.5E−11	1.55 (1.44–1.69), 1.3E−27	1.18 (1.10–1.26), 7.8E−07
European NU	11,927	3688 (30.9)	5986 (50.2)	2253 (18.9)	10,492 (44.0)		–	1.18 (1.10–1.26), 7.8E−07
WP gout	369	38 (10.3)	163 (44.2)	168 (45.5)	499 (67.6)	1.28 (0.86–1.91), 0.22 1.27 (0.83–1.94), 0.27	1.32 (0.99–1.77), 0.062	–
WP HU	88	10 (11.4)	43 (48.9)	35 (39.8)	113 (64.2)	1.28 (0.86–1.91), 0.22 1.27 (0.83–1.94), 0.27		1.02 (0.66–1.60), 0.92
WP NU	146	21 (14.4)	67 (45.9)	58 (39.3)	183 (62.7)			1.02 (0.66–1.60), 0.92
EP gout	543	93 (17.2)	259 (47.9)	189 (34.9)	637 (58.9)	0.94 (0.68–1.29), 0.69 0.92 (0.66–1.27), 0.60	1.03 (0.83–1.27), 0.80	–
EP HU	114	18 (15.8)	51 (44.7)	45 (39.5)	141 (61.8)	0.94 (0.68–1.29), 0.69 0.92 (0.66–1.27), 0.60		1.13 (0.81–1.57), 0.48
EP NU	348	67 (19.3)	173 (49.7)	108 (31.0)	389 (55.9)			1.13 (0.81–1.57), 0.48
rs11942223		TT	TC	CC	C
European gout	1576	1168 (74.1)	382 (24.2)	26 (1.6)	434 (13.8)	0.72 (0.63–0.83), 2.9E−06 0.73 (0.63–0.83), 4.7E−06	0.55 (0.49–0.62), 1.4E−25	–
European HU	2422	1658 (68.5)	701 (28.9)	63 (2.6)	827 (17.1)	0.72 (0.63–0.83), 2.9E−06 0.73 (0.63–0.83), 4.7E−06		0.66 (0.61–0.73), 2.2E−21
European NU	11,927	7101 (59.5)	4220 (35.4)	606 (5.1)	5432 (22.8)			0.66 (0.61–0.73), 2.2E−21
WP gout	369	351 (95.1)	18 (4.9)	0 (0.0)	18 (2.4)	0.53 (0.17–2.05), 0.31 0.51 (0.15–2.08), 0.31	0.61 (0.26–1.46), 0.26	–
WP HU	88	84 (95.5)	4 (4.6)	0 (0.0)	4 (2.3)	0.53 (0.17–2.05), 0.31 0.51 (0.15–2.08), 0.31		0.83 (0.20–2.94), 0.78
WP NU	146	135 (92.5)	11 (7.5)	0 (0.0)	11 (3.8)			0.83 (0.20–2.94), 0.78
EP gout	543	501 (92.3)	39 (7.2)	3 (0.6)	45 (4.1)	1.04 (0.47–2.61), 0.92 1.24 (0.54–3.23), 0.64	1.06 (0.62–1.84), 0.84	–
EP HU	114	105 (92.1)	9 (7.9)	0 (0.0)	9 (3.9)	1.04 (0.47–2.61), 0.92 1.24 (0.54–3.23), 0.64		1.26 (0.51–12.94), 0.60
EP NU	348	311 (89.4)	37 (10.6)	0 (0.0)	37 (5.3)			1.26 (0.51–12.94), 0.60

*European sample set adjusted by age and sex. Polynesian sample sets additionally adjusted by PCs 1–10
^For Gout vs. HU analyses, the top data is before adjustment by highest recorded serum urate, and the bottom figure is after adjustment
^†All sample sets are in Hardy-Weinberg equilibrium (P > 0.01)
^‡Polynesian meta-analysis of WP and EP Gout vs. HU, and of HU vs. NU yielded OR_meta = 1.85, P = 1.3E−03., and OR_meta = 1.49, P = 0.057, respectively
#WP Western Polynesian, EP Eastern Polynesian

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