Table 2.

European ancestry case-case analysis showing IRF5 haplotypes with associated functional elements and serological associations [64].

Tag SNP haplotype	Promoter indel	Splice variant	Exon 6 indel	Poly-A variant	Serologic association
(1) TACA	In	Present	In	Present	Anti-Ro: OR = 1.50, P = 2.0 × 10−3   Anti-dsDNA: OR = 1.51, P = 7.4 × 10−3
(2) TATA	In	Present	Del	Present	Anti-dsDNA: OR = 1.68, P = 4.9 × 10−5
(3) TCTA	Del	Present	In	Absent	Anti-La: OR = 3.51, P = 7.5 × 10−3
(4) GCTA	Del	Absent	Del	Present	—
(5) GCTG	Del	Absent	In	Absent	—

The haplotypes are shown as each of the four alleles in order from 5′ to 3′ (rs2004640, rs3807306, rs10488631, rs2280714).

SNP: single nucleotide polymorphism, indel: insertion/deletion, Poly-A: poly-adenylation, In: insertion, Del: deletion, OR: odds ratio, P: P value.