Title | Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese |
Authors | Guan, Ming Yu, Bo Wan, Jun Zhang, Xinju Wu, Zhiyuan Zhong, Qili Zhang, Wei Zou, Hejian |
Affiliation | Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Rheumatol, Shanghai 200040, Peoples R China. Fudan Univ, Shanghai Med Coll, Huashan Hosp, Cent Lab, Shanghai 200040, Peoples R China. Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Lab Med, Shanghai 200040, Peoples R China. Peking Univ, Shenzhen Hosp, Dept Dermatol, Shenzhen, Peoples R China. Shenzhen PKU HKUST Med Ctr, Shenzhen Key Lab Translat Med Dermatol, Shenzhen, Peoples R China. Hong Kong Univ Sci & Technol, Div Life Sci, Kowloon, Hong Kong, Peoples R China. Ji Nan Univ, JNU HKUST Joint Lab, Jinan, Guangdong, Peoples R China. Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Rheumatol, 12 Cent Urumqi Rd, Shanghai 200040, Peoples R China. |
Keywords | BANK1 SLE Single nucleotide polymorphism High resolution melting GENOME-WIDE ASSOCIATION HONG-KONG CHINESE FUNCTIONAL VARIANTS SIGNAL-TRANSDUCTION POPULATION DISEASE ITGAM GENE BURDEN TNFSF4 |
Issue Date | 2011 |
Publisher | rheumatology |
Citation | RHEUMATOLOGY.2011,50,(3),473-480. |
Abstract | Methods. Genotyping of three variants in BANK1 was carried out by unlabelled probe high resolution melting (HRM) assay in 264 SLE cases and 268 controls in a Chinese Han population living in Shanghai region. The genotype frequencies of the detected polymorphisms were analysed in relation to the production of autoantibodies (ANA, anti-dsDNA, anti-RNP, anti-SSA, anti-SSB and anti-Smith) in SLE patients. Results. Samples with the target genotypes were accurately detected and easily distinguishable by unlabelled probe HRM assay. The frequencies of the rs10516487 C allele and the rs17266594 T allele were significantly increased compared with the controls (C allele: 88.6 vs 83.2%, P = 0.011; T allele: 88.3 vs 83.2%, P = 0.019). However, the frequencies of the rs3733197 G allele were not associated with SLE (G allele: 79.9 vs 79.1%, P = 0.741). The rs10516487 and rs17266594 polymorphisms were significantly associated with high-titre ANA (epsilon 1 : 320) and production of anti-SSA antibodies in SLE patients compared with the control subjects. Conclusions. Genotyping using unlabelled probes is a rapid, accurate and cost-effective closed-tube method. This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susceptibility to SLE and influence the ANA/SSA autoantibody response in SLE patients in Chinese population. |
URI | http://hdl.handle.net/20.500.11897/394824 |
ISSN | 1462-0324 |
DOI | 10.1093/rheumatology/keq353 |
Indexed | SCI(E) |
Appears in Collections: | 深圳医院 |