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Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan

  • Authors:
    • Jai-Sing Yang
    • Ting-Yuan Liu
    • Hsing-Fang Lu
    • Shih-Chang Tsai
    • Wen-Ling Liao
    • Yu-Jen Chiu
    • Yu-Wen Wang
    • Fuu-Jen Tsai
  • View Affiliations

  • Published online on: May 13, 2024     https://doi.org/10.3892/mmr.2024.13239
  • Article Number: 115
  • Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Psoriasis is a chronic inflammatory dermatological disease, and there is a lack of understanding of the genetic factors involved in psoriasis in Taiwan. To establish associations between genetic variations and psoriasis, a genome‑wide association study was performed in a cohort of 2,248 individuals with psoriasis and 67,440 individuals without psoriasis. Using the ingenuity pathway analysis software, biological networks were constructed. Human leukocyte antigen (HLA) diplotypes and haplotypes were analyzed using Attribute Bagging (HIBAG)‑R software and chi‑square analysis. The present study aimed to assess the potential risks associated with psoriasis using a polygenic risk score (PRS) analysis. The genetic association between single nucleotide polymorphisms (SNPs) in psoriasis and various human diseases was assessed by phenome‑wide association study. METAL software was used to analyze datasets from China Medical University Hospital (CMUH) and BioBank Japan (BBJ). The results of the present study revealed 8,585 SNPs with a significance threshold of P<5x10‑8, located within 153 genes strongly associated with the psoriasis phenotype, particularly on chromosomes 5 and 6. This specific genomic region has been identified by analyzing the biological networks associated with numerous pathways, including immune responses and inflammatory signaling. HLA genotype analysis indicated a strong association between HLA‑A*02:07 and HLA‑C*06:02 in a Taiwanese population. Based on our PRS analysis, the risk of psoriasis associated with the SNPs identified in the present study was quantified. These SNPs are associated with various dermatological, circulatory, endocrine, metabolic, musculoskeletal, hematopoietic and infectious diseases. The meta‑analysis results indicated successful replication of a study conducted on psoriasis in the BBJ. Several genetic loci are significantly associated with susceptibility to psoriasis in Taiwanese individuals. The present study contributes to our understanding of the genetic determinants that play a role in susceptibility to psoriasis. Furthermore, it provides valuable insights into the underlying etiology of psoriasis in the Taiwanese community.
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July-2024
Volume 30 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Yang J, Liu T, Lu H, Tsai S, Liao W, Chiu Y, Wang Y and Tsai F: Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan. Mol Med Rep 30: 115, 2024
APA
Yang, J., Liu, T., Lu, H., Tsai, S., Liao, W., Chiu, Y. ... Tsai, F. (2024). Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan. Molecular Medicine Reports, 30, 115. https://doi.org/10.3892/mmr.2024.13239
MLA
Yang, J., Liu, T., Lu, H., Tsai, S., Liao, W., Chiu, Y., Wang, Y., Tsai, F."Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan". Molecular Medicine Reports 30.1 (2024): 115.
Chicago
Yang, J., Liu, T., Lu, H., Tsai, S., Liao, W., Chiu, Y., Wang, Y., Tsai, F."Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan". Molecular Medicine Reports 30, no. 1 (2024): 115. https://doi.org/10.3892/mmr.2024.13239