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Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population

Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in STK32B (serine/threonine kinase 32B), rs17590046 in PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in CTNNA3 (catenin alpha 3), were found to be asso...

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Autores principales: Shi, Chang-he, Cheng, Yuan, Tang, Mi-bo, Liu, Yu-tao, Yang, Zhi-hua, Li, Fang, Fan, Yu, Yang, Jing, Xu, Yu-ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989317/
https://www.ncbi.nlm.nih.gov/pubmed/29899728
http://dx.doi.org/10.3389/fneur.2018.00387
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author Shi, Chang-he
Cheng, Yuan
Tang, Mi-bo
Liu, Yu-tao
Yang, Zhi-hua
Li, Fang
Fan, Yu
Yang, Jing
Xu, Yu-ming
author_facet Shi, Chang-he
Cheng, Yuan
Tang, Mi-bo
Liu, Yu-tao
Yang, Zhi-hua
Li, Fang
Fan, Yu
Yang, Jing
Xu, Yu-ming
author_sort Shi, Chang-he
collection PubMed
description Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in STK32B (serine/threonine kinase 32B), rs17590046 in PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in CTNNA3 (catenin alpha 3), were found to be associated with increased risk of essential tremor (ET) in a genome-wide association study (GWAS)in individuals of Caucasian ancestry. Considering the overlap between ET and Parkinson's disease (PD) in pathological features and clinical manifestations, a case-control study comprising 546 PD patients and 550 control subjects was carried out to examine whether the same variants were also associated with PD in Chinese Han population. However, the above variants did not show an association with PD. Our results suggested that these variants do not play a major role in PD in the Chinese population, Actually, the clinical overlap between PD and ET is under debate. In our Chinese Han cohort, we did not verify potential genetic pleiotropy between two diseases, which may indicated that etiology and pathobiology of PD and ET are distinct. Thus, a more comprehensive study such as a multi-center study may be helpful to evaluate the relationship between the five new susceptible loci and PD in Chinese Han population in the future.
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spelling pubmed-59893172018-06-13 Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population Shi, Chang-he Cheng, Yuan Tang, Mi-bo Liu, Yu-tao Yang, Zhi-hua Li, Fang Fan, Yu Yang, Jing Xu, Yu-ming Front Neurol Neurology Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in STK32B (serine/threonine kinase 32B), rs17590046 in PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in CTNNA3 (catenin alpha 3), were found to be associated with increased risk of essential tremor (ET) in a genome-wide association study (GWAS)in individuals of Caucasian ancestry. Considering the overlap between ET and Parkinson's disease (PD) in pathological features and clinical manifestations, a case-control study comprising 546 PD patients and 550 control subjects was carried out to examine whether the same variants were also associated with PD in Chinese Han population. However, the above variants did not show an association with PD. Our results suggested that these variants do not play a major role in PD in the Chinese population, Actually, the clinical overlap between PD and ET is under debate. In our Chinese Han cohort, we did not verify potential genetic pleiotropy between two diseases, which may indicated that etiology and pathobiology of PD and ET are distinct. Thus, a more comprehensive study such as a multi-center study may be helpful to evaluate the relationship between the five new susceptible loci and PD in Chinese Han population in the future. Frontiers Media S.A. 2018-05-30 /pmc/articles/PMC5989317/ /pubmed/29899728 http://dx.doi.org/10.3389/fneur.2018.00387 Text en Copyright © 2018 Shi, Cheng, Tang, Liu, Yang, Li, Fan, Yang and Xu. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Shi, Chang-he
Cheng, Yuan
Tang, Mi-bo
Liu, Yu-tao
Yang, Zhi-hua
Li, Fang
Fan, Yu
Yang, Jing
Xu, Yu-ming
Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title_full Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title_fullStr Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title_full_unstemmed Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title_short Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population
title_sort analysis of single nucleotide polymorphisms of stk32b, ppargc1a and ctnna3 gene with sporadic parkinson's disease susceptibility in chinese han population
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989317/
https://www.ncbi.nlm.nih.gov/pubmed/29899728
http://dx.doi.org/10.3389/fneur.2018.00387
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