中国汉族人寻常型银屑病临床表型与组织相容性复合体区域 HLA-DPB1*05:01 和 BTNL2 基因的相关性分析。

Correlation analysis of the HLA-DPB1*05:01 and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population.

机构信息

Institute of Dermatology and Department of Dermatology the first Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.

Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.

出版信息

J Gene Med. 2017 Sep;19(9-10). doi: 10.1002/jgm.2961. Epub 2017 Sep 19.

DOI:10.1002/jgm.2961

PMID:28581127

Abstract

BACKGROUND

The human major histocompatibility complex (MHC) is known to be highly polymorphic and has been identified to be associated with numerous diseases. The HLA-DPB1 and BTNL2 genes were associated with psoriasis for the first time. The present study aims to investigate the relevance of the HLA-DPB1 and BTNL2 genes with respect to clinical phenotypes of psoriasis vulgaris (PV).

METHODS

To investigate whether the HLA-DPB1 and BTNL2 polymorphisms were associated with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-controls and case-only subjects (9906 controls and 8744 cases) via MHC targeted sequencing stratified analysis.

RESULTS

In cases and controls, analysis showed that the genotype of HLA-DPB105:01 was associated with type of guttate [p = 3.914 × 10 , odds ratio (OR = 0.9335)] and northern region (p = 1.182 × 10 , OR = 0.9108). In the case-only analysis, the genotype of HLA-DPB105:01 was significantly correlated with geographical region (p = 1.36 × 10 , OR = 1.134). In cases and controls, analysis showed that the genotype of BTNL2 (rs 41355746) was associated with being male (p = 2.563 × 10 , OR = 0.8897), early-onset (p = 9.399 × 10 , OR = 0.8856), guttate (p = 2.469 × 10 , OR = 0.8558) and family history (p = 1.51 × 10 , OR = 0.772). In the case-only analysis, the genotype of BTNL2 (rs41355746) was significantly correlated with family history (p = 1.768 × 10 , OR = 0.757) and age of onset (p = 3.818 × 10 , OR = 1.195).

CONCLUSIONS

The results of the present study indicate that the HLA-DPB105:01 gene was associated with the geographical region of PV and the BTNL2 gene was significantly associated with family history and age of onset of PV. In conclusion, the HLA-DPB105:01 and BTNL2 genes might be responsible for the complicacy of clinical features.

摘要

背景

人类主要组织相容性复合体（MHC）高度多态性，已被确定与许多疾病相关。HLA-DPB1 和 BTNL2 基因首次与银屑病相关。本研究旨在探讨 HLA-DPB1 和 BTNL2 基因与寻常型银屑病（PV）临床表型的相关性。

方法

为了研究 HLA-DPB1 和 BTNL2 多态性是否与中国汉族人群 PV 的临床表型相关，我们通过 MHC 靶向测序分层分析，在病例对照和仅病例研究（9906 例对照和 8744 例病例）中进行了分析。

结果

在病例和对照中，分析表明 HLA-DPB105:01 基因型与点滴状（p=3.914×10−5，优势比（OR）=0.9335）和北方地区（p=1.182×10−5，OR=0.9108）相关。在仅病例分析中，HLA-DPB105:01 基因型与地理区域显著相关（p=1.36×10−10，OR=1.134）。在病例和对照中，分析表明 BTNL2（rs41355746）基因型与男性（p=2.563×10−5，OR=0.8897）、早发（p=9.399×10−6，OR=0.8856）、点滴状（p=2.469×10−5，OR=0.8558）和家族史（p=1.51×10−5，OR=0.772）相关。在仅病例分析中，BTNL2（rs41355746）基因型与家族史（p=1.768×10−10，OR=0.757）和发病年龄（p=3.818×10−10，OR=1.195）显著相关。