A promoter haplotype of the interleukin-18gene is associated with juvenile idiopathic arthritis in the Japanese population

Table 1 Summary of polymorphisms comprising the three haplotypes

Call of SNP	Genotype allele 1/2 (frequency of allele2^a)	JSNP-ID	Location	Function	Previously reported call (reference no.)
9 bp	-/+ (0.52)	ssj 0008978	5' flanking	Unknown
SNP1	C/T(0.52)	ssj 0008979	5' flanking	Unknown
SNP2	A/G(0.38)	ssj 0008980	5' flanking	Unknown
SNP4	T/C(0.38)	ssj 0008982	5' flanking	Unknown
SNP5	C/G(0.38)	ssj 0008983	5' flanking	Unknown
SNP6	T/C(0.52)	ssj 0008984	5' flanking	Unknown
SNP9	G/T(0.52)	ssj 0008987	5' flanking	Unknown	-656G/T (22)
SNP10	C/A(0.52)	ssj 0008988	5' flanking	CRE	-607C/A (22)
SNP11	G/C(0.14)	ssj 0008989	5' flanking	GATA-3	-137G/C (22)
SNP12	T/G(0.14)	ssj 0008990	Exon 1	Untranslated	+113T/G (22)
SNP13	C/T(0.14)	ssj 0008991	Exon 1	Untranslated	+127C/T (22)
SNP14	T/C(0.62)	ssj 0008992	Intron 1	Unknown	-920T/C (32)
SNP15	C/G(0.14)	ssj 0008993	Intron1	NF-1	-133C/G (32)

^aThe frequency of allele 2 in a normal Japanese population (n = 173). 9 bp, 9 base-pair insertion; CRE, cyclic AMP-responsive element-binding protein; GATA-3, GATA-binding protein 3; NF-1, nuclear factor-1. JSNP, a database of Japanese Single Nucleotide polymorphisms [48].

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