. 2020 Jun 9;117(25):14405–14411. doi: 10.1073/pnas.2002051117

Table 1.

Candidate gene allele frequencies in three cohorts of individuals with PFAPA and in metaanalysis of three cohorts

SNP	Nearest gene	Risk allele	Risk allele frequency among PFAPA cases^*	Risk allele frequency among controls^†	ORs	OR_meta (95% CI)	P_meta	Bonferroni corrected P_meta^‡
rs17753641	IL12A	G	0.21	0.12	2.03
			0.22	0.12	2.12	2.13
			0.10	0.04^§	2.67	(1.67–2.72)	9 × 10⁻¹⁰	6 × 10⁻⁹
rs7574070	STAT4	A	0.43	0.35	1.42
			0.51	0.33	2.09	1.51
			0.46	0.42^¶	1.16	(1.25–1.82)	2 × 10⁻⁵	0.0001
rs1518110	IL10	A	0.27	0.20	1.42
			0.30	0.21	1.62	1.45
			0.37	0.30^§	1.34	(1.18–1.79)	0.0004	0.003
rs7616215	CCR1-CCR3	T	0.72	0.65	1.39
			0.69	0.62	1.32	1.38
			0.73	0.66^¶	1.44	(1.12–1.69)	0.002	0.02
rs924080	IL23R-IL12RB2	T	0.58	0.53	1.25
			0.57	0.55	1.07	1.22
			0.68	0.61^§	1.35	(1.00–1.47)	0.04	0.3
rs601338	FUT2	Homozygous AA (nonsecretor)	0.33	0.21 (1000G, n = 503)	1.85
			0.27	0.22 (ExAC, n = 32934)	1.35	1.37
			0.18	0.26^§	0.61	(1.00–1.88)	0.05	0.3
rs140826611	CARD8	TT insertion	0.061	0.057	1.09
			0.035	0.058 (ExAC, n = 33357)	0.60	0.95
			0.050	N/A	N/A	(0.59–1.52)	0.83	1.0

Values are listed in the following order: American discovery cohort (n = 122); American replication cohort (n = 59); Turkish replication cohort (n = 50).

^{^†}

Values are listed in the following order (unless otherwise indicated): ALSPAC (n = 1,927); gnoMAD (n ∼ 7,690); Turkish controls (n ∼ 1,880).

^{^‡}

Metaanalysis P values (P_meta) were corrected for seven comparisons using the Bonferroni correction.

^{^§}

Data from Takeuchi et al. (9).

^{^¶}

Data from Kirino et al. (8).