Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease

Table 3

Association of rs11102024 with adult-onset Still’s disease (AOSD) in the GWAS discovery, replication, and combined sample analyses.

GWAS discovery (70 AOSD cases versus 688 population controls)

Replication analysis (36 AOSD cases versus 200 population controls)

Combined sample analysis (106 AOSD cases versus 888 population controls)

SNP

Allele

MAF of cases

MAF of controls

value^1

Odds ratio^1; (95% CI)

MAF of cases

MAF of controls

value^2

Odds ratio (95% CI)

value^2

Odds ratio (95% CI)

HWE^3

het^4

rs11102024

A/T

22.9

7.5

^-7

3.27 (2.07~5.17)

16.7

7.5

0.022

2.47 (1.20~5.08)

^-8

3.28 (2.25~4.79)

0.33

0.36

MAF: minor allele frequency; OR: odds ratio; 95% CI: 95% confidence interval. ¹ value and odds ratio were derived by logistic regression adjusted with sex and principal components (PCs) from the GWAS discovery result. ² values were calculated by Fisher’s exact test for the risk allele. ³Hardy-Weinberg equilibrium (HWE); values for 888 controls from the general population. ⁴: value of the heterogeneity test between studies.