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.
J Gene Med. 2017 Sep;19(9-10). doi: 10.1002/jgm.2961. Epub 2017 Sep 19.
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).
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.
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).
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.
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。
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。
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。
本研究结果表明，HLA-DPB105:01 基因与 PV 的地理区域相关，BTNL2 基因与 PV 的家族史和发病年龄显著相关。综上所述，HLA-DPB105:01 和 BTNL2 基因可能导致了临床特征的复杂性。
