Tg. Kim et al., SYSTEMIC LUPUS-ERYTHEMATOSUS WITH NEPHRITIS IS STRONGLY ASSOCIATED WITH THE TNFB-ASTERISK-2 HOMOZYGOTE IN THE KOREAN POPULATION, Human immunology, 46(1), 1996, pp. 10-17
To evaluate the association of TNFB NcoI polymorphism with SLE in the
Korean population, are investigated the frequencies of the TNFB and HL
A-DRB1 alleles in 281 controls and 97 SLE patients, including 56 patie
nts with nephritis and 41 patients without nephritis. The frequency of
the TNFB2 homozygote in SLE was significantly increased over control
s (43.3% vs 28.5%, RR = 1.9, p < 0.01). In SLE with nephritis, the TNF
B2 homozygote was more significantly increased (57.1% vs 28.5%, RR =
3.4, p < 0.0001), whereas there was no significant difference between
SLE without nephritis and controls. The study of HLA-DRB1 alleles reve
aled the increased frequencies of DRB102 and *03 (30.9% vs 18.2%, RR
= 2.0, p < 0.01; 8.2% vs 2.1%, RR = 4.1, p < 0.05). There was no signi
ficantly different distribution of HLA-DRB1 alleles between SLE patien
ts with nephritis and without nephritis. We found positive LD between
TNFB1 and HLA-DRB1*13, and between TNFB*2 and the particular DRB1 all
ele: 15, *04, and *07 in controls and/or in SLE patients. After strat
ification for each HLA-DRB1 allele, SLE with nephritis showed a higher
frequency of TNFB2 homozygote compared with the corresponding contro
ls in DRB115, *08, and *09 positives. Our results suggest that the TN
FB2 homozygote may be a strong susceptibility gene of SLE with nephri
tis in the Korean population.