Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population

Table 1 Allele/haplotype distribution of IRF5 polymorphisms in Korean SLE patients/controls and association analysis for SLE

Loci	Associated allele	Cases	Controls	OR (95% CI)	χ²	P ^a
		(n = 593)	(n = 972)
rs729302 (A > C)	A	0.729	0.680	1.27 (1.08–1.49)	8.44	0.0037
rs2004640 (G > T)	T	0.385	0.321	1.32 (1.14–1.54)	13.22	0.0003
rs752637 (T > C)	C	0.455	0.398	1.27 (1.09–1.47)	9.73	0.0018
rs2280714 (T > C)	T	0.395	0.402	0.97 (0.84–1.13)	0.15	0.6971
Haplotype^b	AGTC	0.355	0.368	0.95 (0.82–1.11)	0.49	0.4840
	ATCT	0.352	0.295	1.28 (0.10–1.50)	10.85	0.001
	CGTT	0.158	0.205	0.74 (0.61–0.89)	10.21	0.0014
	CGCT	0.066	0.071	0.96 (0.72–1.28)	0.34	0.5600
	CGTC	0.034	0.024	0.97 (0.63–1.50)	0.78	0.3784
	CTCT	0.016	0.017	1.23 (0.72–2.09)	0.07	0.7919
Haplotype^c	T–T	0.380	0.311	1.36 (1.16–1.58)	15.2	9.64 × 10^-5
	G–T	0.225	0.283	0.74 (0.62–0.87)	12.5	0.0004
	G–C	0.387	0.398	0.95 (0.82–1.11)	0.4	0.5330
	T–T	0.008	0.008	0.96 (0.42–2.21)	0.0	0.9323

Case-control analysis. χ² analyses were used to evaluate the significance of differences in genotype and allele frequencies in the case-control samples. The allele frequencies for cases and controls were used to calculate the OR and the 95% CI. For the case-control haplotype analysis, Haploview v3.2 (Broad Institute of Harvard and MIT Cambridge, MA, USA) was used to generate haplotype frequencies and calculate the significance of associations. CI, confidence interval; IRF5, IFN regulatory factor 5; OR, odds ratio; SLE, systemic lupus erythematosus.
^aP value, uncorrected for multiple tests.
^bHaplotype consisting of markers rs729302 (A > C), rs2004640 (G > T), rs752637 (T > C) and rs2280714 (T > C).
^cHaplotype consisting of markers rs2004640 (G > T) and rs2280714 (T > C).

ISSN: 1478-6362