Table 2.

Association Results for Newly Discovered Sarcoidosis Risk Variants

dbSNP ID	rs653178	rs4921492	rs223498	rs6748088
Chromosome	12	5	4	2
Position	112,007,756	158,832,277	103,651,962	203,264,771
Candidate genes	ATXN2, SH2B3	IL12B	NFKB, MANBA	FAM117B
A1	G	A	C	C
A2	A	C	A	T
Panel A
AFcases	0.55	0.39	0.51	0.34
AFcontrols	0.5	0.34	0.47	0.31
P value	1.36 × 10−6	7.56 × 10−7	6.68 × 10−6	4.30 × 10−4
OR (95% CI)	1.21 (1.12–1.30)	1.22 (1.13–1.32)	1.19 (1.10–1.29)	1.16 (1.07–1.26)
Panel B-I
AFcases	0.54	0.39	0.52	0.35
AFcontrols	0.49	0.35	0.48	0.30
P value	8.06 × 10−3	0.019	0.012	1.34 × 10−4
OR (95% CI)	1.19 (1.05–1.34)	1.17 (1.03–1.33)	1.18 (1.04–1.33)	1.29 (1.13–1.48)
Panel B-II
AFcases	0.54	0.4	0.5	0.37
AFcontrols	0.51	0.33	0.48	0.31
P value	ns	0.039	ns	0.048
OR (95% CI)	1.13 (0.89–1.44)	1.33 (1.04–1.71)	1.08 (0.85–1.38)	1.29 (1.00–1.67)
Panel C-I
AFcases	0.58	0.38	0.44	0.36
AFcontrols	0.48	0.36	0.49	0.32
P value	8.94 × 10−4	ns	ns	ns
OR (95% CI)	1.49 (1.18–1.89)	1.11 (0.87–1.41)	0.82 (0.64–1.03)	1.20 (0.94–1.54)
Panel C-II
AFcases	0.50	0.38	0.54	0.32
AFcontrols	0.48	0.35	0.48	0.30
P value	ns	ns	1.08 × 10−5	ns
OR (95% CI)	1.12 (0.99–1.26)	1.14 (0.94–1.39)	1.30 (1.16–1.46)	1.10 (0.95–1.27)
Joint analysis
P CMH	1.64 × 10−10	2.14 × 10−9	1.28 × 10−9	2.10 × 10−8
OR (95% CI)	1.19 (1.14–1.27)	1.20 (1.13–1.27)	1.19 (1.12–1.26)	1.18 (1.11–1.25)

Definition of abbreviations: AF = allele frequency; CI = confidence interval; CMH = Cochran-Mantel-Haenzel test; dbSNP = National Institutes of Health SNP database; ns = not significant; OR = odds ratio.

The position of the respective lead variant is given according to human genome build 19. OR refers to allele 1 (A1), and P values are presented for the logistic regression model using an allelic model for genotype coding. The threshold for genome-wide significance (P < 5 × 10⁻⁸) in the CMH test (P CMH) was applied to define a true association.