OBJECTIVE: To examine the association of complement C4 and HLA-DR to systemic lupus erythematosus (SLE) susceptibility in Korea. METHODS: Complement C4 protein typing was carried out by immunofixation and immunoblotting methods using EDTA-plasma from 60 patients with SLE and 72 healthy controls. Restriction fragment length polymorphism analysis of C4 genes was also carried out using TaqI or HindIII for restriction enzymes. HLA-DR was determined by polymerase chain reaction amplification with sequence specific primers using genomic DNA from 67 patients with SLE and 72 healthy controls. RESULTS: The frequency of the C4AQ0 allele was significantly higher in the patients with SLE than in controls (41.7 vs 25.0%, p < 0.05). The deletion of the C4A gene commonly found in Caucasian patients with SLE was not observed in any patients. For HLA-DR, a significant increase of the haplotype DRB1*1501 was observed in the patients (26.9 vs 12.5%, p < 0.05) and DR9 was also significantly increased (23.9 vs 11.1%, p < 0.05). An increase in each DR2 and DR9 was independent of an increase in C4AQ0. The frequencies of DR2 and DR9 were significantly decreased in patients with renal involvement and alopecia, respectively. CONCLUSION: Our data suggested that the presence of C4AQ0 allele, DRB1*1501-DRB5*0101 haplotype and DR9 contributed to susceptibility to SLE in Koreans and that Korean SLE is based on a different genetic background from Caucasian patients.
OBJECTIVE: To examine the association of complement C4 and HLA-DR to systemic lupus erythematosus (SLE) susceptibility in Korea. METHODS: Complement C4 protein typing was carried out by immunofixation and immunoblotting methods using EDTA-plasma from 60 patients with SLE and 72 healthy controls. Restriction fragment length polymorphism analysis of C4 genes was also carried out using TaqI or HindIII for restriction enzymes. HLA-DR was determined by polymerase chain reaction amplification with sequence specific primers using genomic DNA from 67 patients with SLE and 72 healthy controls. RESULTS: The frequency of the C4AQ0 allele was significantly higher in the patients with SLE than in controls (41.7 vs 25.0%, p < 0.05). The deletion of the C4A gene commonly found in Caucasian patients with SLE was not observed in any patients. For HLA-DR, a significant increase of the haplotype DRB1*1501 was observed in the patients (26.9 vs 12.5%, p < 0.05) and DR9 was also significantly increased (23.9 vs 11.1%, p < 0.05). An increase in each DR2 and DR9 was independent of an increase in C4AQ0. The frequencies of DR2 and DR9 were significantly decreased in patients with renal involvement and alopecia, respectively. CONCLUSION: Our data suggested that the presence of C4AQ0 allele, DRB1*1501-DRB5*0101 haplotype and DR9 contributed to susceptibility to SLE in Koreans and that Korean SLE is based on a different genetic background from Caucasian patients.
Authors: Ning Wang; Nan Shen; Timothy J Vyse; Vidya Anand; Iva Gunnarson; Gunnar Sturfelt; Solbritt Rantapää-Dahlqvist; Kerstin Elvin; Lennart Truedsson; Bengt A Andersson; Charlotte Dahle; Eva Ortqvist; Peter K Gregersen; Timothy W Behrens; Lennart Hammarström Journal: Mol Med Date: 2011-08-04 Impact factor: 6.354
Authors: Max Lam; Chia-Yen Chen; Zhiqiang Li; Alicia R Martin; Julien Bryois; Xixian Ma; Helena Gaspar; Masashi Ikeda; Beben Benyamin; Brielin C Brown; Ruize Liu; Wei Zhou; Lili Guan; Yoichiro Kamatani; Sung-Wan Kim; Michiaki Kubo; Agung A A A Kusumawardhani; Chih-Min Liu; Hong Ma; Sathish Periyasamy; Atsushi Takahashi; Zhida Xu; Hao Yu; Feng Zhu; Wei J Chen; Stephen Faraone; Stephen J Glatt; Lin He; Steven E Hyman; Hai-Gwo Hwu; Steven A McCarroll; Benjamin M Neale; Pamela Sklar; Dieter B Wildenauer; Xin Yu; Dai Zhang; Bryan J Mowry; Jimmy Lee; Peter Holmans; Shuhua Xu; Patrick F Sullivan; Stephan Ripke; Michael C O'Donovan; Mark J Daly; Shengying Qin; Pak Sham; Nakao Iwata; Kyung S Hong; Sibylle G Schwab; Weihua Yue; Ming Tsuang; Jianjun Liu; Xiancang Ma; René S Kahn; Yongyong Shi; Hailiang Huang Journal: Nat Genet Date: 2019-11-18 Impact factor: 38.330