PMID- 37752970
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230928
IS  - 1178-7015 (Print)
IS  - 1178-7015 (Electronic)
IS  - 1178-7015 (Linking)
VI  - 16
DP  - 2023
TI  - Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between 
      Individuals and Hair Follicles.
PG  - 2597-2612
LID - 10.2147/CCID.S428788 [doi]
AB  - 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.
CI  - (c) 2023 Yang et al.
FAU - Yang, Jai-Sing
AU  - Yang JS
AUID- ORCID: 0000-0001-7302-8248
AD  - Department of Medical Research, China Medical University Hospital, China Medical 
      University, Taichung, 404327, Taiwan.
FAU - Liu, Ting-Yuan
AU  - Liu TY
AUID- ORCID: 0000-0002-2729-0541
AD  - Million-Person Precision Medicine Initiative, Department of Medical Research, 
      China Medical University Hospital, Taichung, 404327, Taiwan.
FAU - Chen, Yu-Chia
AU  - Chen YC
AUID- ORCID: 0000-0002-8837-6023
AD  - Million-Person Precision Medicine Initiative, Department of Medical Research, 
      China Medical University Hospital, Taichung, 404327, Taiwan.
FAU - Tsai, Shih-Chang
AU  - Tsai SC
AUID- ORCID: 0000-0001-9018-607X
AD  - Department of Biological Science and Technology, China Medical University, 
      Taichung, 406040, Taiwan.
FAU - Chiu, Yu-Jen
AU  - Chiu YJ
AUID- ORCID: 0000-0002-8065-0876
AD  - Division of Plastic and Reconstructive Surgery, Department of Surgery, Taipei 
      Veterans General Hospital, Taipei, 112201, Taiwan.
AD  - Department of Surgery, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, 112304, Taiwan.
FAU - Liao, Chi-Chou
AU  - Liao CC
AUID- ORCID: 0009-0006-0017-1805
AD  - Million-Person Precision Medicine Initiative, Department of Medical Research, 
      China Medical University Hospital, Taichung, 404327, Taiwan.
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
AUID- ORCID: 0000-0002-1373-245X
AD  - School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, 404333, Taiwan.
AD  - China Medical University Children's Hospital, Taichung, 404327, Taiwan.
AD  - Department of Medical Genetics, China Medical University Hospital, Taichung, 
      404327, Taiwan.
LA  - eng
PT  - Journal Article
DEP - 20230921
PL  - New Zealand
TA  - Clin Cosmet Investig Dermatol
JT  - Clinical, cosmetic and investigational dermatology
JID - 101543449
PMC - PMC10519225
OTO - NOTNLM
OT  - HLA genotypes
OT  - alopecia areata
OT  - genome-wide association study
OT  - network analysis
COIS- The authors declared no potential conflicts of interest with respect to the 
      research, authorship, and/or publication of this article.
EDAT- 2023/09/27 06:43
MHDA- 2023/09/27 06:44
PMCR- 2023/09/21
CRDT- 2023/09/27 03:40
PHST- 2023/07/04 00:00 [received]
PHST- 2023/09/14 00:00 [accepted]
PHST- 2023/09/27 06:44 [medline]
PHST- 2023/09/27 06:43 [pubmed]
PHST- 2023/09/27 03:40 [entrez]
PHST- 2023/09/21 00:00 [pmc-release]
AID - 428788 [pii]
AID - 10.2147/CCID.S428788 [doi]
PST - epublish
SO  - Clin Cosmet Investig Dermatol. 2023 Sep 21;16:2597-2612. doi: 
      10.2147/CCID.S428788. eCollection 2023.