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An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population
BACKGROUND: Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP. METHODS:...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531349/ https://www.ncbi.nlm.nih.gov/pubmed/36195861 http://dx.doi.org/10.1186/s12920-022-01350-5 |
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author | Qiao, Yimeng Wang, Yangong Xu, Yiran Zhang, Jin Su, Yu Cheng, Ye Bi, Dan Song, Juan Xia, Lei Li, Ming Zhang, Xiaoli Zhu, Dengna Wang, Ting Ding, Jian Wang, Xiaoyang Zhu, Changlian Xing, Qinghe |
author_facet | Qiao, Yimeng Wang, Yangong Xu, Yiran Zhang, Jin Su, Yu Cheng, Ye Bi, Dan Song, Juan Xia, Lei Li, Ming Zhang, Xiaoli Zhu, Dengna Wang, Ting Ding, Jian Wang, Xiaoyang Zhu, Changlian Xing, Qinghe |
author_sort | Qiao, Yimeng |
collection | PubMed |
description | BACKGROUND: Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP. METHODS: An association between 6 SNPs (rs12244380, rs2025345, rs12722561, rs4749926, rs2104286 and rs706778) in IL2RA (interleukin 2 receptor subunit alpha) and CP was investigated using a case–control method based on 782 CP cases and 778 controls. The allele, genotype and haplotype frequencies of SNPs were assessed using the SHEsis program. Subgroup analyses based on complications and clinical subtypes were also conducted. RESULTS: Globally, no differences in genotype or allele frequencies for any SNPs remained significant after Bonferroni correction between patients and controls, except rs706778, which deviated from Hardy–Weinberg equilibrium and was excluded from further analyses. However, subgroup analysis revealed a significant association of rs2025345 with spastic tetraplegia (P genotype = 0.048 after correction) and rs12722561 with CP accompanied by global developmental delay (P allele = 0.045 after correction), even after Bonferroni correction. CONCLUSIONS: These findings indicated that genetic variations in IL2RA are significantly associated with CP susceptibility in the Chinese Han population, suggesting that IL2RA is likely involved in the pathogenesis of CP. Further investigation with a larger sample size in a multiethnic population is needed to confirm the association. |
format | Online Article Text |
id | pubmed-9531349 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-95313492022-10-05 An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population Qiao, Yimeng Wang, Yangong Xu, Yiran Zhang, Jin Su, Yu Cheng, Ye Bi, Dan Song, Juan Xia, Lei Li, Ming Zhang, Xiaoli Zhu, Dengna Wang, Ting Ding, Jian Wang, Xiaoyang Zhu, Changlian Xing, Qinghe BMC Med Genomics Research BACKGROUND: Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP. METHODS: An association between 6 SNPs (rs12244380, rs2025345, rs12722561, rs4749926, rs2104286 and rs706778) in IL2RA (interleukin 2 receptor subunit alpha) and CP was investigated using a case–control method based on 782 CP cases and 778 controls. The allele, genotype and haplotype frequencies of SNPs were assessed using the SHEsis program. Subgroup analyses based on complications and clinical subtypes were also conducted. RESULTS: Globally, no differences in genotype or allele frequencies for any SNPs remained significant after Bonferroni correction between patients and controls, except rs706778, which deviated from Hardy–Weinberg equilibrium and was excluded from further analyses. However, subgroup analysis revealed a significant association of rs2025345 with spastic tetraplegia (P genotype = 0.048 after correction) and rs12722561 with CP accompanied by global developmental delay (P allele = 0.045 after correction), even after Bonferroni correction. CONCLUSIONS: These findings indicated that genetic variations in IL2RA are significantly associated with CP susceptibility in the Chinese Han population, suggesting that IL2RA is likely involved in the pathogenesis of CP. Further investigation with a larger sample size in a multiethnic population is needed to confirm the association. BioMed Central 2022-10-04 /pmc/articles/PMC9531349/ /pubmed/36195861 http://dx.doi.org/10.1186/s12920-022-01350-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Qiao, Yimeng Wang, Yangong Xu, Yiran Zhang, Jin Su, Yu Cheng, Ye Bi, Dan Song, Juan Xia, Lei Li, Ming Zhang, Xiaoli Zhu, Dengna Wang, Ting Ding, Jian Wang, Xiaoyang Zhu, Changlian Xing, Qinghe An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title | An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title_full | An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title_fullStr | An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title_full_unstemmed | An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title_short | An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population |
title_sort | association study of il2ra polymorphisms with cerebral palsy in a chinese population |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531349/ https://www.ncbi.nlm.nih.gov/pubmed/36195861 http://dx.doi.org/10.1186/s12920-022-01350-5 |
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