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. Author manuscript; available in PMC: 2017 Sep 1.
Published in final edited form as: Nat Genet. 2017 Jan 30;49(3):433–437. doi: 10.1038/ng.3782

Table 1.

Association of SNPs in the GTF2IRD1-GTF2I-NCF1 region with autoimmune diseases in different ancestral groups

Disease Dataset Subject
rs73366469 (C/Ta)
rs117026326 (T/Ca)
p.Arg90His (A/Ga)
p.Ser99Gly (G/Aa)
MAFb (%)
P OR Pc MAFb (%)
P OR Pc MAFb (%)
P OR MAFb (%)
P OR Pc
Case Control Case Control Case Control Case Control Case Control
SLE AfrAm* 474 315 18.5 19.5 0.66 0.94 0.43 0.0 1.00 15.7 8.3 2.9×10−5 2.02 40.1 39.4 0.78 1.03

SLE Chinese-1 436 586 29.7 13.9 1.7×10−14 2.66 0.57 28.1 11.4 1.8×10−17 3.18 0.27 38.1 15.6 2.6×10−23 3.35 43.2 26.8 1.6×10−13 2.22 0.70
SLE Chinese-2 746 1034 30.0 15.2 6.5×10−22 2.48 0.046 27.1 11.9 2.3×10−24 2.82 0.093 41.6 16.7 1.5×10−41 3.27 46.5 28.2 1.6×10−22 2.13 0.21
SLE Meta-Chinese 1182 1620 9.2×10−35 2.55 4.4×10−40 2.94 4.2×10−63 3.30 2.1×10−34 2.16

SLE Korean* 611 685 30.0 11.4 3.3×10−27 3.25 0.18 46.6 18.1 2.6×10−43 3.82 52.4 30.5 3.2×10−26 2.47 0.052
SLE Meta-Asians 1793 2305 2.0×10−65 3.05 3.1×10−104 3.47 1.5×10−58 2.26

SLE EurAm-1* 612 485 10.8 8.5 0.036 1.37 0.64 2.4 0.72 6.4×10−3 3.25 0.59 5.5 2.1 9.5×10−5 2.83 17.8 13.0 3.9×10−3 1.44 0.12
SLE EurAm-2* 736 446 11.9 8.5 0.012 1.46 0.25 2.4 0.67 6.1×10−3 3.51 0.29 6.0 2.4 5.0×10−4 2.42 18.6 13.1 5.5×10−4 1.53 0.057
SLE Meta-EurAm 1348 931 1.1×10−3 1.42 1.1×10−4 3.37 1.9×10−7 2.61 7.3×10−6 1.49

SS Chinese-SS 449 469 26.2 14.7 4.6×10−9 2.03 0.29 37.8 18.3 7.2×10−17 2.45 41.5 29.1 9.7×10−8 1.68 0.017
SS EurAm-SS* 302 931 2.0 0.70 7.3×10−3 3.12 0.36 4.8 2.2 9.7×10−4 2.35 15.4 13.1 0.20 1.19 0.93

RA Korean-RA 836 685 26.6 18.1 2.5×10−8 1.65 35.2 30.5 2.0×10−3 1.27 0.94
a

minor/major allele,

b

minor allele frequency,

c

P value after conditioning on p.Arg90His.

SLE, systemic lupus erythematosus; SS, Sjogren’s Syndrome; RA, rheumatoid arthritis

*

Association analyses were conducted in subjects with the 4:2 ratio of ΔGT/GTGT.