Table 3

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

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


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.

Alonso-Perez et al. Arthritis Research & Therapy 2013 15:R82   doi:10.1186/ar4262

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