@article {Kang1577, author = {S H Kang and M H Park and E Y Song and S J Kang and E B Lee and Y W Song and F Takeuchi}, title = {Association of HLA class II genes with systemic sclerosis in Koreans.}, volume = {28}, number = {7}, pages = {1577--1583}, year = {2001}, publisher = {The Journal of Rheumatology}, abstract = {OBJECTIVE: To investigate HLA class II associations with systemic sclerosis (SSc) in Koreans according to anti-topoisomerase I (anti-topo I), anti-centromere antibody (ACA), and anti-U1 ribonucleoprotein (RNP) status. METHODS: HLA class II alleles (DRB1, DRB5, DQB1) were determined by DNA typing in 200 healthy control subjects and 74 patients with SSc: 35 anti-topo I positive, 3 ACA positive, and 19 anti-U1 RNP positive; among them were 34 diffuse and 40 limited subtypes, and 16 overlap syndrome. RESULTS: Anti-topo I positive SSc was strongly associated with DRB1*1502 compared with both controls (23\% vs 5\%; Pcorr = 0.003) and anti-topo I negative patients (23\% vs 3\%; p = 0.009); our study confirms observations in Japanese. HLA-DR 67FLEDR71, especially 38V-67FLEDR71 sequence (carried on DRB5*0102 in linkage disequilibrium with DRB1*1502, DRB1*0802, DRBI*1101), showed the strongest association with anti-topo I response (46\% vs 16\% in controls; Pcorr = 0.001), and 38L-67FLEDR71 group alleles were not associated with anti-topo I response. Anti-topo I response was not significantly associated with HLA-DQB1 alleles in Koreans. There were only 3 ACA positive patients, and all patients had DRB1*1501 and DQB1*0602 as heterozygotes. Anti-U1 RNP occurred at a high frequency (63\%) among patients with overlap syndrome, and was not associated with HLA-DR or DQ genes. Among anti-topo I negative patients, diffuse and limited subtypes of SSc were significantly associated with DRB1*0803 (47\% vs 15\% in controls; Pcorr \< 0.05) and DRB1*1501 (50\% vs 17\% in controls; Pcorr \< 0.01), respectively. These HLA associations have not been reported in other ethnic groups and possible associations with certain autoantibody subsets remain to be confirmed. CONCLUSION: HLA-DR gene has a primary association with anti-topo I response, and HLA-DR 38V-67FLEDR71 group alleles including DRB5*0102 (in linkage disequilibrium with DRB1*1502) show the strongest association with anti-topo I response in Korean patients with SSc.}, issn = {0315-162X}, URL = {https://www.jrheum.org/content/28/7/1577}, eprint = {https://www.jrheum.org/content/28/7/1577.full.pdf}, journal = {The Journal of Rheumatology} }