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学科主题: 临床医学
题名:
Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese
作者: Guan, Ming2,3; Yu, Bo4,5; Wan, Jun5,6; Zhang, Xinju2; Wu, Zhiyuan2; Zhong, Qili4; Zhang, Wei6,7; Zou, Hejian1
关键词: BANK1 ; SLE ; Single nucleotide polymorphism ; High resolution melting
刊名: RHEUMATOLOGY
发表日期: 2011-03-01
DOI: 10.1093/rheumatology/keq353
卷: 50, 期:3, 页:473-480
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Rheumatology
研究领域[WOS]: Rheumatology
关键词[WOS]: GENOME-WIDE ASSOCIATION ; HONG-KONG CHINESE ; FUNCTIONAL VARIANTS ; SIGNAL-TRANSDUCTION ; POPULATION ; DISEASE ; ITGAM ; GENE ; BURDEN ; TNFSF4
英文摘要:

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.

语种: 英语
所属项目编号: 30872590
项目资助者: Natural Science Foundation of China ; Training Program Foundation for the Talents in Shanghai
WOS记录号: WOS:000287745600007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60843
Appears in Collections:北京大学深圳医院_皮肤性病科_期刊论文

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作者单位: 1.Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Rheumatol, Shanghai 200040, Peoples R China
2.Fudan Univ, Shanghai Med Coll, Huashan Hosp, Cent Lab, Shanghai 200040, Peoples R China
3.Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Lab Med, Shanghai 200040, Peoples R China
4.Peking Univ, Shenzhen Hosp, Dept Dermatol, Shenzhen, Peoples R China
5.Shenzhen PKU HKUST Med Ctr, Shenzhen Key Lab Translat Med Dermatol, Shenzhen, Peoples R China
6.Hong Kong Univ Sci & Technol, Div Life Sci, Kowloon, Hong Kong, Peoples R China
7.Ji Nan Univ, JNU HKUST Joint Lab, Jinan, Guangdong, Peoples R China

Recommended Citation:
Guan, Ming,Yu, Bo,Wan, Jun,et al. Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese[J]. RHEUMATOLOGY,2011,50(3):473-480.
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