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Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese
Circadian disruptions may result in sleep problems, oxidative stress and an altered inflammatory response. These symptoms may contribute to PD pathogenesis, despite a lack of direct experimental evidence supporting this relationship. Clock genes are essential to drive and maintain circadian rhythm....
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623766/ https://www.ncbi.nlm.nih.gov/pubmed/26507264 http://dx.doi.org/10.1038/srep15891 |
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author | Gu, Zhuqin Wang, BinBin Zhang, Yong-Biao Ding, Hui Zhang, Yanli Yu, Jun Gu, Mingliang Chan, Piu Cai, Yanning |
author_facet | Gu, Zhuqin Wang, BinBin Zhang, Yong-Biao Ding, Hui Zhang, Yanli Yu, Jun Gu, Mingliang Chan, Piu Cai, Yanning |
author_sort | Gu, Zhuqin |
collection | PubMed |
description | Circadian disruptions may result in sleep problems, oxidative stress and an altered inflammatory response. These symptoms may contribute to PD pathogenesis, despite a lack of direct experimental evidence supporting this relationship. Clock genes are essential to drive and maintain circadian rhythm. To elucidate the possible role of circadian disruptions in PD, we investigated 132 tag variants in eight clock genes. We genotyped these tags within 1,394 Chinese cases and 1,342 controls using Illumina GoldenGate chips. We discovered that SNPs in ARNTL (rs900147, P = 3.33 × 10(−5), OR = 0.80) and PER1 (rs2253820, P = 5.30 × 10(−6), OR = 1.31) genes are significantly associated with PD risk. Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(−4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(−2)). The association of the PER1 rs2253820 variant was more robust in PIGD (P = 5.42 × 10(−5)) than TD cases (P = 4.2 × 10(−2)). Haplotype analysis also showed that ARNTL and PER1 were associated with PD. Imputation analysis identified more SNPs within ARNTL and PER1 associated with PD, some of which may affect gene expression through altering the transcription factor binding site. In summary, our findings suggest that genetic polymorphisms in ARNTL and PER1 genes, as well as circadian disruptions, may contribute to PD pathogenesis. |
format | Online Article Text |
id | pubmed-4623766 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-46237662015-11-03 Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese Gu, Zhuqin Wang, BinBin Zhang, Yong-Biao Ding, Hui Zhang, Yanli Yu, Jun Gu, Mingliang Chan, Piu Cai, Yanning Sci Rep Article Circadian disruptions may result in sleep problems, oxidative stress and an altered inflammatory response. These symptoms may contribute to PD pathogenesis, despite a lack of direct experimental evidence supporting this relationship. Clock genes are essential to drive and maintain circadian rhythm. To elucidate the possible role of circadian disruptions in PD, we investigated 132 tag variants in eight clock genes. We genotyped these tags within 1,394 Chinese cases and 1,342 controls using Illumina GoldenGate chips. We discovered that SNPs in ARNTL (rs900147, P = 3.33 × 10(−5), OR = 0.80) and PER1 (rs2253820, P = 5.30 × 10(−6), OR = 1.31) genes are significantly associated with PD risk. Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(−4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(−2)). The association of the PER1 rs2253820 variant was more robust in PIGD (P = 5.42 × 10(−5)) than TD cases (P = 4.2 × 10(−2)). Haplotype analysis also showed that ARNTL and PER1 were associated with PD. Imputation analysis identified more SNPs within ARNTL and PER1 associated with PD, some of which may affect gene expression through altering the transcription factor binding site. In summary, our findings suggest that genetic polymorphisms in ARNTL and PER1 genes, as well as circadian disruptions, may contribute to PD pathogenesis. Nature Publishing Group 2015-10-28 /pmc/articles/PMC4623766/ /pubmed/26507264 http://dx.doi.org/10.1038/srep15891 Text en Copyright © 2015, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Gu, Zhuqin Wang, BinBin Zhang, Yong-Biao Ding, Hui Zhang, Yanli Yu, Jun Gu, Mingliang Chan, Piu Cai, Yanning Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title | Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title_full | Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title_fullStr | Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title_full_unstemmed | Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title_short | Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese |
title_sort | association of arntl and per1 genes with parkinson's disease: a case-control study of han chinese |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623766/ https://www.ncbi.nlm.nih.gov/pubmed/26507264 http://dx.doi.org/10.1038/srep15891 |
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