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

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

Haplotypeb % Alleles at haplotypec Allele effectd 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    
  1. 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.