Table 4. .
CNV of C4 and RCCX Modules among European American Female and Male Controls (FC and MC, respectively), Female and Male First-Degree Relatives (FF and MF, respectively), Female Patients with SLE from Ohio Study (FP), and Female Patients with SLE from a Replication Study (SP)
FC |
MC |
FF |
MF |
FP |
SP |
|||||||
Genes or Haplotypes and Group |
No. | Frequency | No. | Frequency | No. | Frequency | No. | Frequency | No. | Frequency | No. | Frequency |
Total C4 genes: | ||||||||||||
2 | 6 | .015 | 1 | .008 | 14 | .063 | 10 | .07 | 20 | .093 | 3 | .025 |
3 | 105 | .27 | 30 | .234 | 68 | .308 | 48 | .338 | 71 | .329 | 45 | .381 |
4 | 231 | .594 | 81 | .633 | 120 | .543 | 71 | .5 | 112 | .519 | 62 | .525 |
5 | 41 | .105 | 12 | .094 | 15 | .068 | 13 | .092 | 11 | .051 | 4 | .034 |
⩾6 | 6 | .015 | 4 | .031 | 4 | .018 | 0 | 0 | 2 | .009 | 4 | .033 |
Total | 389 | … | 128 | … | 221 | … | 142 | … | 216 | … | 118 | … |
C4A genes: | ||||||||||||
0 | 5 | .013 | 0 | 0 | 6 | .027 | 6 | .043 | 14 | .065 | 3 | .025 |
1 | 70 | .182 | 19 | .148 | 53 | .241 | 37 | .262 | 57 | .264 | 39 | .331 |
2 | 218 | .566 | 71 | .555 | 121 | .55 | 77 | .546 | 112 | .519 | 63 | .534 |
3 | 81 | .21 | 30 | .234 | 32 | .145 | 20 | .142 | 24 | .111 | 11 | .093 |
4 | 9 | .023 | 8 | .063 | 8 | .036 | 1 | .007 | 8 | .037 | 1 | .008 |
5 | 2 | .005 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | .005 | 1 | .008 |
Total | 385 | … | 128 | … | 220 | … | 141 | … | 216 | … | 118 | … |
C4B genes: | ||||||||||||
0 | 9 | .023 | 5 | .039 | 5 | .023 | 5 | .035 | 6 | .028 | 3 | .025 |
1 | 99 | .257 | 39 | .305 | 52 | .236 | 27 | .191 | 49 | .227 | 16 | .136 |
2 | 250 | .649 | 75 | .586 | 158 | .718 | 102 | .723 | 153 | .708 | 90 | .763 |
3 | 26 | .068 | 9 | .07 | 4 | .018 | 7 | .05 | 7 | .032 | 6 | .051 |
⩾4 | 1 | .003 | 0 | 0 | 1 | .005 | 0 | 0 | 1 | .005 | 3 | .025 |
Total | 385 | … | 128 | … | 220 | … | 141 | … | 216 | … | 118 | … |
Long C4 genes: | ||||||||||||
0 | 4 | .01 | 0 | 0 | 5 | .023 | 3 | .021 | 10 | .046 | 0 | 0 |
1 | 26 | .067 | 5 | .039 | 18 | .082 | 18 | .127 | 20 | .093 | 9 | .101 |
2 | 100 | .257 | 29 | .227 | 60 | .273 | 37 | .261 | 63 | .292 | 30 | .337 |
3 | 145 | .373 | 46 | .359 | 78 | .355 | 58 | .408 | 68 | .315 | 30 | .337 |
4 | 98 | .252 | 44 | .344 | 53 | .241 | 22 | .155 | 51 | .236 | 17 | .191 |
5 | 14 | .036 | 3 | .023 | 5 | .023 | 4 | .028 | 3 | .014 | 2 | .022 |
6 | 2 | .005 | 1 | .008 | 1 | .005 | 0 | 0 | 1 | .005 | 1 | .011 |
Total | 389 | … | 128 | … | 220 | … | 142 | … | 216 | … | 89a | … |
Short C4 genes: | ||||||||||||
0 | 130 | .334 | 51 | .398 | 64 | .291 | 35 | .246 | 70 | .324 | 20 | .225 |
1 | 170 | .437 | 59 | .461 | 109 | .495 | 69 | .486 | 96 | .444 | 47 | .528 |
2 | 80 | .206 | 11 | .086 | 42 | .191 | 36 | .254 | 43 | .199 | 19 | .213 |
3 | 8 | .021 | 7 | .055 | 4 | .018 | 2 | .014 | 6 | .028 | 1 | .011 |
4 | 1 | .003 | 0 | 0 | 1 | .005 | 0 | 0 | 1 | .005 | 2 | .022 |
Total | 389 | … | 128 | … | 220 | … | 142 | … | 216 | … | 89a | … |
RCCX haplotypes: | ||||||||||||
L | 33 | .042 | 14 | .055 | 31 | .07 | 21 | .074 | 32 | .074 | 5 | .028 |
S | 88 | .113 | 20 | .078 | 55 | .125 | 43 | .151 | 73 | .169 | 28 | .157 |
LL | 387 | .497 | 139 | .543 | 205 | .466 | 117 | .412 | 199 | .461 | 76 | .427 |
LS | 208 | .267 | 60 | .234 | 123 | .28 | 85 | .299 | 105 | .243 | 54 | .303 |
SS | 1 | .001 | 0 | 0 | 1 | .002 | 1 | .004 | 4 | .009 | 0 | 0 |
LSL | 11 | .014 | 3 | .012 | 7 | .016 | 5 | .018 | 6 | .014 | 2 | .011 |
LSS | 25 | .032 | 8 | .031 | 7 | .016 | 6 | .021 | 5 | .012 | 6 | .034 |
LLL | 24 | .031 | 11 | .043 | 10 | .023 | 6 | .021 | 7 | .016 | 6 | .034 |
SSS | 0 | 0 | 1 | .004 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
LSSS | 0 | 0 | 0 | 0 | 1 | .002 | 0 | 0 | 1 | .002 | 0 | 0 |
LLLL | 1 | .001 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | .006 |
Total | 778 | … | 256 | … | 440 | … | 284 | … | 432 | … | 178a | … |
Copy numbers of long C4, short C4, and RCCX haplotypes in SP were calculated from California SLE cohort.