Open AccessCopy number variations and polymorphisms in HSP90AB1 and risk of systemic lupus erythematosus and efficacy of glucocorticoids
Author(s) -
Zhang Man,
Gu Yuanyuan,
Huang Shunwei,
Lou Qiuyue,
Xie Qiaomei,
Xu Zhiwei,
Chen Yangfan,
Pan Faming,
Xu Shengqian,
Liu Shengxiu,
Tao Jinhui,
Liu Shuang,
Cai Jing,
Chen Peiling,
Qian Long,
Wang Chunhuai,
Liang Chunmei,
Huang Hailiang,
Pan Haifeng,
Su Hong,
Cheng Jian,
Zhang Yuzhou,
Hu Wenbiao,
Zou Yanfeng
Publication year - 2019
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.14410
Subject(s) - single nucleotide polymorphism , medicine , snp , copy number variation , oncology , biology , bioinformatics , genotype , gene , genetics , genome
The aim of our study was to assess the associations of HSP90AB1 copy number variations (CNVs) with systemic lupus erythematosus (SLE) risk and glucocorticoids (GCs) efficacy, as well as the relationship between HSP90AB1 single‐nucleotide polymorphisms (SNPs) and GCs efficacy. HSP90AB1 CNVs and SLE risk were analysed in 519 patients and 538 controls. Patients treated with GCs were followed up for 12 weeks and were divided into sensitive and insensitive groups to investigate the effects of CNVs (419 patients) and SNPs (457 patients) on the efficacy of GCs. Health‐related quality of life (HRQoL) was also measured by SF‐36 at baseline and week 12 to explore the relationship between CNVs/SNPs and HRQoL improvements in Chinese SLE patients. Our results indicated a statistically significant association between HSP90AB1 CNVs and SLE ( P BH = 0.039), and this association was more pronounced in the female subgroup ( P BH = 0.039). However, we did not detect association of HSP90AB1 CNVs/SNPs with efficacy of GCs. But we found a marginal association between SNP rs13296 and improvement in Role‐emotional, while this association was not strong enough to survive in the multiple testing corrections. Collectively, our findings suggest that the copy number of HSP90AB1 is associated with SLE susceptibility. But copy number and polymorphisms of HSP90AB1 may not be associated with efficacy of GCs.