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. 2007 Apr 26;80(6):1037–0001054. doi: 10.1086/518257

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
a

Copy numbers of long C4, short C4, and RCCX haplotypes in SP were calculated from California SLE cohort.