Table 3.

Genetic similarities among PFAPA, recurrent aphthous stomatitis, and Behçet’s disease

	Recurrent aphthous stomatitis (RAS)		PFAPA		Behçet’s disease
Gene	Associated SNP/allele	OR/P value	Associated SNP/allele	OR/P value	Associated SNP/allele	OR/P value	Notes
IL12A	rs76830965*	0.72	rs17753641	2.13	rs17753641†	1.90	ORs for rs17753641 and rs76830965 are reported for opposite alleles. Risk alleles for these two SNPs are in high LD with each other (D′=1, r2 = 1).
		4 × 10−483		6 × 10−9		1 × 10−9
STAT4	rs11684030*	1.06	rs7574070	1.51	rs7574070‡	1.27	rs7574070 and rs11684030 are in high LD with each other (D′=0.99, r2 = 0.93).
		1 × 10−42		1 × 10−4		1 × 10−9
IL10	rs1800871*	1.18	rs1518110	1.45	rs1518110†	1.34	rs1518110 and rs1800871 are in high LD with each other (D′=0.98, r2 = 0.89).
		6 × 10−236		0.003		5 × 10−9
CCR1-CCR3	rs4493469*	1.10	rs7616215	1.38	rs7616215†	1.40	Several variants near the CCR3 and/or CCR1 loci are associated with RAS.
		2 × 10−43		0.02		1 × 10−10
IL23R-IL12RB2	Not reported as a top association*		Not significant		rs924080†	1.28
						3 × 10−7
FUT2	Not reported as a top association*		Not significant		rs601338†	1.52
						7 × 10−9
HLA	HLA-DRB1*01:03*	1.33	HLA-DQB1*06:03 (in LD with HLA-DRB1*13:01 & HLA-DQA1*01:03)	2.13	HLA-B*51:01§	3.3	In Behçet’s disease, HLA-B*15:01 was nearly significant in conditional analyses. HLA-B*15 was statistically significant among Behçet’s disease patients without HLA-B*51 (OR 2.0, P = 3 × 10−5).§
		2.0 × 10−24	HLA-B*15:01	0.0002	HLA-B*15:01§	5 × 10−58
	HLA-B*15:01*	1.10		1.96		1.24
		6.4 × 10−9		0.007		0.2

LD, linkage disequilibrium, reported in HaploReg 4.1 for the 1000G Phase 1 EUR population.

^*Data from Dudding et al. (12).

^†Data from Takeuchi et al. (9).

^‡Data from Kirino et al. (8).

^§Data from Ombrello et al. (11).