The Association of LRP5 Gene Polymorphisms with Ankylosing Spondylitis in a Chinese Han Population

JIANMIN LIU; XIAOYAN ZHOU; ZHENXING SHAN; JIGUO YANG; QINGRUI YANG; YAZHOU CUI; JINXIANG HAN

doi:10.3899/jrheum.111117

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Table 1.

Basic characteristics of 466 subjects (296 cases, 170 controls). Numbers do not add up to the total number of cases because some test results were not recorded.

Characteristics	Cases	Controls
Sex (men/women)	228/68	128/42
Average age, yrs, SD	29.19 ± 9.86	24.66 ± 6.66
No. patients juvenile onset/adult onset	114/170
B-27 (negative/positive)	14/155
Kyphosis (negative/positive)	169/120
Bamboo spine (negative/positive)	195/94
Radiographic grading of sacroiliitis (2/3–4)	123/167

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Table 2.

Allelic and genotype association analysis of single-nucleotide polymorphism (SNP) in the LRP5 gene in case control.

		Allele						Genotype
		Freq (case)	Freq (control)					Case Frequency			Control Frequency
SNP	Allele	Freq (case)	Freq (control)	p	OR	P_c	95% CI	1/1	1/2	2/2	1/1	1/2	2/2	Fisher’s p	P_c
LRP5SNP1	G	0.052	0.059	0.627	0.866	0.92	0.647–2.059	0.897	0.103	—	0.882	0.118	—	0.616	0.94
rs312016	G	0.377	0.406	0.399	0.888	0.86	0.854–1.485	0.372	0.502	0.126	0.335	0.518	0.146	0.681	0.96
rs312015	G	0.385	0.382	0.936	1.011	0.92	0.752–1.300	0.370	0.490	0.140	0.376	0.482	0.141	0.986	1.00
rs312024	G	0.422	0.447	0.450	0.902	0.92	0.848–1.450	0.330	0.497	0.173	0.288	0.529	0.182	0.644	0.95
rs41494349	G	0.090	0.082	0.689	1.102	0.92	0.584–1.502	0.823	0.173	0.003	0.841	0.153	0.006	0.787	0.97
rs638051	G	0.336	0.300	0.256	1.181	0.82	0.835–1.328	0.408	0.512	0.080	0.476	0.447	0.076	0.346	0.87
rs4930573	C	0.177	0.195	0.494	0.888	0.97	0.631–1.249	0.030	0.294	0.676	0.041	0.308	0.651	0.753	0.97
rs686921	C	0.254	0.256	0.954	0.991	1.00	0.743–1.369	0.545	0.401	0.054	0.571	0.347	0.082	0.305	0.89
rs471966	G	0.273	0.262	0.719	1.057	0.95	0.700–1.279	0.528	0.398	0.074	0.547	0.382	0.071	0.927	1.00
rs531163	G	0.271	0.268	0.914	1.017	1.00	0.728–1.328	0.528	0.401	0.070	0.535	0.394	0.071	0.988	1.00
LRP5SNP2	A	0.085	0.097	0.534	0.864	0.92	0.546–1.368	0.007	0.157	0.837	0.000	0.194	0.806	0.341	0.90
LRP5SNP3	A	0.219	0.131	0.0018	1.859	0.0087	1.255–2.755	0.121	0.195	0.684	0.034	0.195	0.772	0.0098	0.0316

P_c: p value after multiple testing correction.

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Table 3.

Haplotype analysis of LRP5 in cases and controls. All haplotype frequencies < 0.03 were left out of the analysis.

Haplotype	Frequency (case)	Frequency (control)	Fisher’s p	OR	P_c	95% CI
AGA	0.1577	0.0691	0.0002	2.5359	0.0051	(1.5297, 4.2039)
AGG	0.5440	0.6423	0.0035	0.6329	0.0482	(0.4653, 0.8607)
GAG	0.0539	0.0588	0.7635	0.9105	0.9999	(0.4941, 1.6776)
GGG	0.1844	0.1681	0.5590	1.1185	0.9935	(0.7681, 1.6288)