Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles

被引：8

作者：

Yang, Jai-Sing ^{[1
]}

Liu, Ting-Yuan ^{[2
]}

Chen, Yu-Chia ^{[2
]}

Tsai, Shih-Chang ^{[3
]}

Chiu, Yu-Jen ^{[4
,5
]}

Liao, Chi-Chou ^{[2
]}

Tsai, Fuu-Jen ^{[6
,7
,8
,9
]}

机构：

[1] China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung 404327, Taiwan

[2] China Med Univ Hosp, Dept Med Res, Mill Person Precis Med Initiat, Taichung 404327, Taiwan

[3] China Med Univ, Dept Biol Sci & Technol, Taichung 406040, Taiwan

[4] Taipei Vet Gen Hosp, Dept Surg, Div Plast & Reconstruct Surg, Taipei 112201, Taiwan

[5] Natl Yang Ming Chiao Tung Univ, Sch Med, Dept Surg, Taipei 112304, Taiwan

[6] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung 404333, Taiwan

[7] China Med Univ, Childrens Hosp, Taichung 404327, Taiwan

[8] China Med Univ Hosp, Dept Med Genet, Taichung 404327, Taiwan

[9] China Med Univ Hosp, Dept Med Genet, 2 Yude Rd, Taichung 404332, Taiwan

来源：

CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY | 2023年 / 16卷

关键词：

alopecia areata; genome-wide association study; network analysis; HLA genotypes; DERMAL PAPILLA CELLS; HLA CLASS-II; SUSCEPTIBILITY LOCI; ICAM-1; EXPRESSION; NOTCH4; ALLELES; LINKAGE; GENE;

D O I：

10.2147/CCID.S428788

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Purpose: Alopecia areata (AA) is one of the most prevalent autoimmune diseases affecting humans. Given that hair follicles are immune-privileged, autoimmunity can result in disfiguring hair loss. However, the genetic basis for AA in the Taiwanese population remains unknown.Materials and Methods: A genome-wide association study was conducted using a cohort of 408 AA cases and 8167 controls. To link variants to gene relationships, we used 882 SNPs (P<1E-05) within 74 genes that were associated with AA group to build the biological networks by IPA software. HLA diplotypes and haplotypes were analyzed using Attribute Bagging (HIBAG)-R package and chi-square analysis.Results: Seven single nucleotide polymorphisms (SNPs) including LINC02006 (rs531166736, rs187306735), APC (rs112800832_C_CAT), SRP19 (rs139948960, rs144784670), EGFLAM (rs16903975) and LDLRAD3 (rs79874564) were closely associated with the AA phenotype (P<5E-08). Examination of biological networks revealed that these genomic areas are associated with antigen presentation signaling, B cell and T cell development, Th1 and Th2 activation pathways, Notch signaling, crosstalk signaling between dendritic cells and natural killer cells, and phagosome maturation. Based on human leukocyte antigen (HLA) genotype analysis, four HLA genotypes (HLA-B*15:01-*40:01, HLA-DQA1*01:02-*03:03, HLA-DQA1*01:02, and HLA-DQB1*02:01) were found to be associated with AA (adjusted p-value<0.05). HLA-DQA1*01:02 is the most significantly related gene in the Taiwanese population (adjusted p-value = 2.09E-05).Conclusion: This study successfully identified susceptibility loci associated with AA in the Taiwanese population. These findings not only shed light on the origins of AA within the Taiwanese context but also contribute to a comprehensive understanding of the genetic factors influencing AA susceptibility.

引用

页码：2597 / 2612

页数：16