Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis

Table 1 Characteristics of RA patients and controls included in targeted exon sequencing

	RA cases (n = 1,217)^*	Controls (n = 717)^*
Age of onset (mean ± SD years)	41.9 ± 12.8	35.1 ± 10.7
Disease duration (mean ± SD years)	9.9 ± 11.1	-
Female (%)	87.4	85.3
Rheumatoid factor (%)	97.8	-
Anti-cyclic citrullinated peptide autoantibodies (%)	98.1	-

^*Cryptic relatedness with duplicate or first-degree relatives using KING software, outlier (deviating >8 SEM on any of the five principal components), or samples with less than 80% of the data sequenced were removed. A total of 1,934 samples were included for further analysis. SD, standard deviation; SEM, standard error of the mean.

ISSN: 1478-6362