Table 2. Summary of lead SNPs associated with genome-wide significance for Behçet’s disease susceptibility.

The pairwise LD is 0.63 for r² between rs1495965 and rs924080, 0.95 between rs1518111 and rs1800871, 0.90 between rs7574070 and rs897200, and 0.23 between rs7616215 and rs13092160 in the European origin from 1000 Genomes Pilot 1 (SNAP).

Variant	Gene	Location	Risk Allele	OR	Population		Function of the risk allele	Ref.
					Discovery	Replication
rs1495965	IL23R,IL12RB2	Intergenic	G	1.35	Japanese	Turkish		[56]
rs924080	IL23R,IL12RB2	Intergenic	A	1.28	Turkish, Japanese			[57]
rs1518111	IL10	Intron	A	1.45	Turkish	Greek, UK, Iranian, Middle Eastern Arab, Japanese, Han Chinese	Reduces expression in monocytes	[57, 64]
rs1800871	IL10	Promoter	T	1.45	Japanese	Turkish, Korean, Han Chinese		[56, 64]
rs9494885	TNFAIP3	Intergenic	C	1.81	Han Chinese		No difference in expression in PBMCs
rs7574070	STAT4	Intron	A	1.27	Turkish	Japanese	Increases expression	[59]
rs897200	STAT4	Intergenic	A	1.45	Han Chinese		Increases expression of STAT4 and IL17	[61]
rs7616215	CCR1	Intergenic	T	1.39	Turkish	Japanese	Decreases expression in monocytes Reduces monocyte chemotaxis	[59]
rs13092160	CCR1, CCR3	Intergenic	T	3.13	Han Chinese		Decreases expression in PBMCs	[100]
rs2617170	KLRC4	Missense	C	1.28	Turkish	Japanese		[59]
M694V	MEFV	Missense	V	2.65	Turkish		Increases response to LPS	[69]
rs17482078	ERAP1	Missense	TT2	4.56	Turkish			[59]
rs681343	FUT2	Synonymous	T	1.30	Iranian, Turkish		r2 = 1 with a nonsecretor allele (rs601338)	[57, 62]
rs17810546	IL12A	Intergenic	A/G3	1.66	Turkish, Mixed populations			[59, 63]
R381Q, G149R1	IL23R	Missense		Protective	Turkish, Japanese		Reduces IL-23 dependent IL-17 (R381Q)	[69]
D299G, T399I1	TLR4	Missense		Protective	Turkish, Japanese		Reduces response to LPS Hyporesponsiveness to endotoxin	[69]
R702W, G908R L1007fs1	NOD2	Missense Frame shift		Protective	Turkish, Japanese		Reduces response to MDP	[69]

¹Variants from targeted sequencing study without single variant based genome-wide significance.

²Homozygotes of rs17482078 showed genome wide significance in BD patients with uveitis.

³The reported disease risk allele is different between studies.