Table 1. Distribution of C4A and C4B CNV Frequency*.
C4A/C4B Gene Copy Number Frequency (%) | |||||
---|---|---|---|---|---|
Patient | 0 | 1 | 2 | 3 | 4 |
RA | 1.2/4.4 | 19.4/35.6 | 46.3/56.3 | 3.1/29.4 | 2.5/0.6 |
Sero(+) | 1.7/6.1 | 18.3/37.4 | 40.0/53.9 | 35.7/1.7 | 2.6/1.7 |
Sero(−) | 0/0 | 22.2/31.1 | 62.2/62.2 | 13.3/6.7 | 2.2/0 |
Non-RA | 1.1/1.1 | 22.5/21.3 | 49.4/73.0 | 23.6/2.2 | 3.4/2.2 |
Healthy | 0/2 | 17.6/19.6 | 66.7/70.6 | 15.7/5.9 | 0/2.0 |
Ohio Cohort | 0/2.7 | 17.3/26.9 | 56.3/63.3 | 21.6/6.8 | 3.3/0.2 |
Frequency analysis of C4A and C4B gene copy number shown as percentage of each group. Number of individuals analyzed in each group: RA: n=160; Seropositive RA (Sero+) n =115; Seronegative RA (Sero−) n=45; Non-RA patients (non-RA) n =88; Healthy volunteers (Healthy) n=51. Ohio Cohort represents a separate, unrelated healthy control cohort [(n=517; 389 females, mean age ± SD: 38.6 ± 11.1 years old; and 128 males, 34.3±12.1 years old (22)]. All patients and volunteers are of European descent. No patient had more than 5 copies of either C4A or C4B.