Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjögren's syndrome

Table 1 P2RX7 SNPs genotyped in pSS patients and normal subjects

#	ID	SNP	Exon	Protein	Functional effect of minor allele [30, 31, 40]
1	rs35933842	G151T	1	Intron 1 splice site	Loss
2	rs17525809	T253C	2	V76A	Partial loss
3	rs28360447	G474A	5	G150R	Loss
4	rs208294	C489T	5	H155Y	Gain
5	rs7958311	G835A	8	R270H	Partial loss
6	rs7958316	G853A	8	R276H	Loss
7	rs28360457	G946A	9	R307Q	Loss
8	rs1718119	G1068A	11	A348T	Gain
9	rs2230911	C1096G	11	T357S	Partial loss
10	rs2230912	A1405G	13	Q460R	Gain^a
11	rs3751143	A1513C	13	E496A	Loss
12	rs1653624	T1729A	13	I568N	Loss

^aThe minor allele 1405G is a tag for haplotype 4 (Figure 1). pSS, primary Sjögren's syndrome; SNP, single nucleotide polymorphism.

ISSN: 1478-6362