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Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population

Non-segmental vitiligo (NSV) is the most common type of vitiligo, which is characterized by chronic and progressive loss of melanocytes. Genetic factors have been shown to play a key role in NSV in association and family studies. Granzyme B is a serine protease found in the cytoplasmic granules of c...

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Autores principales: Jeong, Ki-Heon, Kim, Su Kang, Seo, Jong-Kil, Shin, Min Kyung, Lee, Mu-Hyoung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801456/
https://www.ncbi.nlm.nih.gov/pubmed/33431938
http://dx.doi.org/10.1038/s41598-020-79705-0
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author Jeong, Ki-Heon
Kim, Su Kang
Seo, Jong-Kil
Shin, Min Kyung
Lee, Mu-Hyoung
author_facet Jeong, Ki-Heon
Kim, Su Kang
Seo, Jong-Kil
Shin, Min Kyung
Lee, Mu-Hyoung
author_sort Jeong, Ki-Heon
collection PubMed
description Non-segmental vitiligo (NSV) is the most common type of vitiligo, which is characterized by chronic and progressive loss of melanocytes. Genetic factors have been shown to play a key role in NSV in association and family studies. Granzyme B is a serine protease found in the cytoplasmic granules of cytotoxic T lymphocytes and natural killer cells that play an important role in inducing apoptotic changes of target cells. Several recent studies have provided evidence that polymorphism in the GZMB gene might be associated with autoimmune disease. A total of 249 NSV patients and 455 healthy controls were recruited to determine whether single nucleotide polymorphisms (SNPs) [rs2236337 (3′ untranslated region, UTR), rs2236338 (Tyr247His), rs11539752 (Pro94Ala), rs10909625 (Lys80Lys), rs8192917 (Arg55Gln), and rs7144366 (5′ near gene)] in GZMB gene contribute to the risk of developing NSV. Genotyping was performed using a single 192.24 Dynamic Array IFC. Data were analyzed using EP1 SNP Genotyping Analysis software to obtain genotype calls. Among the six SNPs tested, five SNPs (rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917) showed significant association with NSV susceptibility. Among them, rs2236338, rs11539752, rs10909625, and rs8192917 remained a statistically significant association following multiple correction test. The five SNPs were located within a block of linkage disequilibrium. Haplotypes T–A–G–T–T and C–G–C–C–C consisting of rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917 demonstrated significant association with NSV. Our results suggest that GZMB polymorphisms are associated with the development of NSV.
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spelling pubmed-78014562021-01-12 Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population Jeong, Ki-Heon Kim, Su Kang Seo, Jong-Kil Shin, Min Kyung Lee, Mu-Hyoung Sci Rep Article Non-segmental vitiligo (NSV) is the most common type of vitiligo, which is characterized by chronic and progressive loss of melanocytes. Genetic factors have been shown to play a key role in NSV in association and family studies. Granzyme B is a serine protease found in the cytoplasmic granules of cytotoxic T lymphocytes and natural killer cells that play an important role in inducing apoptotic changes of target cells. Several recent studies have provided evidence that polymorphism in the GZMB gene might be associated with autoimmune disease. A total of 249 NSV patients and 455 healthy controls were recruited to determine whether single nucleotide polymorphisms (SNPs) [rs2236337 (3′ untranslated region, UTR), rs2236338 (Tyr247His), rs11539752 (Pro94Ala), rs10909625 (Lys80Lys), rs8192917 (Arg55Gln), and rs7144366 (5′ near gene)] in GZMB gene contribute to the risk of developing NSV. Genotyping was performed using a single 192.24 Dynamic Array IFC. Data were analyzed using EP1 SNP Genotyping Analysis software to obtain genotype calls. Among the six SNPs tested, five SNPs (rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917) showed significant association with NSV susceptibility. Among them, rs2236338, rs11539752, rs10909625, and rs8192917 remained a statistically significant association following multiple correction test. The five SNPs were located within a block of linkage disequilibrium. Haplotypes T–A–G–T–T and C–G–C–C–C consisting of rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917 demonstrated significant association with NSV. Our results suggest that GZMB polymorphisms are associated with the development of NSV. Nature Publishing Group UK 2021-01-11 /pmc/articles/PMC7801456/ /pubmed/33431938 http://dx.doi.org/10.1038/s41598-020-79705-0 Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Jeong, Ki-Heon
Kim, Su Kang
Seo, Jong-Kil
Shin, Min Kyung
Lee, Mu-Hyoung
Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title_full Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title_fullStr Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title_full_unstemmed Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title_short Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population
title_sort association of gzmb polymorphisms and susceptibility to non-segmental vitiligo in a korean population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801456/
https://www.ncbi.nlm.nih.gov/pubmed/33431938
http://dx.doi.org/10.1038/s41598-020-79705-0
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