Molecular analysis of major histocompatibility complex allelic associations with systemic lupus erythematosus in Taiwan.
OBJECTIVE
To investigate the association of HLA class II alleles/haplotypes, type I C2 deficiency gene, and tumor necrosis factor a gene promoter allele (TNF2) with systemic lupus erythematosus (SLE) in the Chinese population in Taiwan.


METHODS
The HLA-DRB1 and DQB1 alleles were studied in 105 SLE patients and 115 controls by the polymerase chain reaction (PCR)/sequence-specific oligonucleotide probe method, the subtyping of DRB1*15/16 and DRB5 by PCR with sequence-specific primers, type I C2 deficiency gene by PCR, and TNF2 by PCR-Nco I restriction fragment length polymorphism.


RESULTS
The frequencies of the HLA class II alleles DRB1*02, DRB1*1502, DRB5*0102, DQB1*0501, and DQB1*0602 and DR2-associated haplotypes DRB1* 1501,DRB5*0101,DQB1*0602 and DRB1*1502,DRB5* 0102,DQB1*0501 were higher among SLE patients than among controls; however, only DQB1*0501 was statistically significantly associated with SLE. No specific allele/haplotype was significantly associated with lupus nephritis. No subject had type I C2 deficiency. SLE patients had a marginally higher percentage of TNF2, which was in linkage disequilibrium with DR3. Since DR3 was not associated with SLE in this Taiwanese Chinese population, TNF2 might play a role in the immunopathogenesis of SLE.


CONCLUSIONS
Although no HLA-DRB1 allele was found to be significantly associated with SLE, the associations with DQB1*0501 and TNF2 suggest that DQB1 and tumor necrosis factor a may be important genetic factors in SLE susceptibility in the Chinese population in Taiwan.
Lu
L Y
LY
Veterans General Hospital, Kaohsiung, Taiwan.
Ding
W Z
WZ
Fici
D
D
Deulofeut
R
R
Cheng
H H
HH
Cheu
C C
CC
Sung
P K
PK
Schur
P H
PH
Fraser
P A
PA
D000328:Adult; D000483:Alleles; D002681:China / Q000208:ethnology; D005260:Female; D008040:Genetic Linkage / Q000502:physiology; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D015802:HLA-DR2 Antigen / Q000235:genetics; D015803:HLA-DR3 Antigen / Q000235:genetics; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics; D008297:Male; D013624:Taiwan / Q000453:epidemiology; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D015802:HLA-DR2 Antigen; D015803:HLA-DR3 Antigen; D059811:HLA-DRB1 Chains; D000949:Histocompatibility Antigens Class II; D014409:Tumor Necrosis Factor-alpha