Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.
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DOI:
10.1371/journal.pone.0087363
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发表时间:
2014
期刊:
影响因子:
3.7
通讯作者:
Zhou X
Zhou X
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Wang J;Guo X;Yi L;Guo G;Tu W;Wu W;Yang L;Xiao R;Li Y;Chu H;He D;Jin L;Mayes MD;Zou H;Zhou X

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据报道,人类白细胞抗原DPB 1含有单核苷酸多态性,在韩国人群中对系统性硬化症的易感性最强。然而,特定DPB 1等位基因与SSc的关联在不同种族人群中存在差异。本研究的目的是在中国人群中检测DPB 1等位基因,并确定与SSc相关的特异性DPB 1等位基因,以及SSc在中国汉族人群中的临床和血清学特征。在这项研究中,对338名SSc患者和480名性别匹配和不相关的对照组进行了检查。采用基于序列的分型方法进行HLA-DPB 1基因分型。从等位基因计数或等位基因携带者和疾病状态的2×2表格中获得精确的p值(Fisher检验)。在队列中发现38个DPB 1等位基因。DPB 1 *05:01是该队列中最常见的等位基因。DPB 1 *03:01和 *13:01在SSc中显著增加。DPB 1 *13:01相关性已在其他种族人群中描述,而DPB 1 *03:01特异于中国汉族SSc患者。此外,SSc亚群之间的比较表明,携带DPB 1 *03:01的患者更可能发生肺纤维化,在具有抗着丝粒自身抗体的SSc患者中,DPB 1 *04携带者增加,相反,具有纯合子DPB 1 *05:01的SSc患者显示出边缘显著性的相反关联。
Human leukocyte antigen DPB1 was reported to contain singly nucleotide polymorphisms conferring the strongest susceptibility to systemic sclerosis in Korean population. However, associations of specific DPB1 alleles with SSc vary in different ethnic populations. The aim of this study was to profile DPB1 alleles in Chinese population and to identify specific DPB1 alleles in association with SSc and clinical and serological features of SSc in Han Chinese. A cohort containing 338 patients with SSc and 480 gender-matched and unrelated controls were examined in the study. The HLA-DPB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher's test) from 2×2 tables of allele counts or allele carriers and disease status. Thirty eight DPB1 alleles were found in the cohort. DPB1*05:01 was the most common allele in this cohort. DPB1*03:01 and *13:01 were significantly increased in SSc. DPB1*13:01 association had already been described in other ethnic populations, whereas DPB1*03:01 was specific to Han Chinese patients with SSc. In addition, comparisons between SSc subsets indicated that patients carrying DPB1*03:01 were more likely to develop pulmonary fibrosis, DPB1*04 carriers were increased in SSc patients with anti-centromere autoantibodies and in contrast, SSc patients with homozygous DPB1*05:01 showed an opposite association with marginal significance.
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