Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies

Table 3 Assignment of cis-regulatory polymorphisms to haplotypes with associated mRNA expression and systemic lupus erythematosus susceptibility.^a

Haplotype^b	%	Alleles at haplotype^c	Allele effect^d	Expression	Association
1	5.3	TCIDGCATATTT	LHLLH	0.24 (-0.3 to 0.8)	0.75 (0.6 to 0.9)
2	14.2	TCIDGTGAATCC	LHLLL	-1.10 (-1.5 to -0.7)	0.79 (0.7 to 0.9)
3	13.7	CAIDGTGAATCC	HLLLL	-1.33 (-1.7 to -1.0)	0.89 (0.8 to 1.1)
4	29.5	CADITCATGTTT	HLHHH	0.84 (0.5 to 1.2)	0.95 (0.8 to 1.1)
5	2.6	CADITCATATTT	HLHHH	1.63 (0.7 to 2.6)	1.06 (0.8 to 1.4)
6	8.9	CADITCATACTC	HLHHH	1.38 (1.1 to 1.7)	1.93 (1.6 to 2.3)
na	3.7	TCIDGCATGTTT
na	2.6	CAIDTCGAATTC
na	2.6	TCIDGTATGTTT

^aFive cis-regulatory polymorphisms and seven tag SNPs are represented. Allele effects to increased (H) or decreased (L) expression are signaled. Combinations of these effects were retrospectively correlated with the mean specific expression in unstimulated lymphoblastoid cells (95% C.I.)[12] and OR (95% C.I.) of the association with SLE[5]. ^bHaplotype numbers as previously described. na = not applicable for lack of correspondence. ^cOrder of polymorphisms is: rs13245639, rs729302, rs11269962, CGGGG indel, rs2004640, rs752637, rs10954213, rs13242262, rs10488630, rs10488631, rs2280714 and rs4731535. ^dOrder of allele effects: rs13245639, rs729302, rs11269962, CGGGG indel and rs10954213.

ISSN: 1478-6362