Association of Complement Receptor 2 Gene Polymorphisms with Susceptibility to Osteonecrosis of the Femoral Head in Systemic Lupus Erythematosus
Table 2
SNP markers in the CR2 gene genotyped in this case-control study.
rs number (alternative name)
Position
Amino acid substitution
Genotype
MAF
HWE
C/C
C/R
R/R
Control
Case
rs3813946 (T/C)
Exon (5′ UTR)
No
TT
CT
CC
0.144
0.184
0.309
rs311306 (G/C)
Intron 1
No
GG
CG
CC
0.139
0.20
0.299
rs1567190 (T/C)
Intron 1
No
TT
CT
CC
0.419
0.34
0.864
rs17615 (G/A)
Coding exon 10
Ser639Asn (AGT-AAT)
GG
AG
AA
0.133
0.163
0.077
rs17045328 (A/G)
Intron 16
No
AA
AG
GG
0.262
0.208
0.517
rs12032512 (C/G)
Intron 17
No
CC
CG
GG
0.419
0.45
0.396
rs6690215 (C/T)
Intron 18
No
CC
CT
TT
0.463
0.43
0.618
rs17045468 (C/T)
Intron 18
No
CC
CT
TT
0.255
0.23
0.379
MAF: minor allele frequency; HWE: values of deviation from Hardy-Weinberg equilibrium. C/C: major homozygote; C/R: heterozygote; R/R: minor homozygote.
