The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt–Jakob Disease

Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrPSc) derived from endogenous forms of prion protein (PrPC). Several case–control and genome-wide association studies have reported...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Yong-Chan Kim, Byung-Hoon Jeong
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	prion <i>PRNP</i> CJD polymorphism SNP susceptibility Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/b3a4b7bcefe744cdbf6e22c37f486ea2
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:b3a4b7bcefe744cdbf6e22c37f486ea2
record_format	dspace
spelling	oai:doaj.org-article:b3a4b7bcefe744cdbf6e22c37f486ea22021-11-25T17:11:49ZThe First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease10.3390/cells101131322073-4409https://doaj.org/article/b3a4b7bcefe744cdbf6e22c37f486ea22021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4409/10/11/3132https://doaj.org/toc/2073-4409Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrP<sup>Sc</sup>) derived from endogenous forms of prion protein (PrP<sup>C</sup>). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (<i>PRNP</i>) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the <i>PRNP</i> gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, <i>p</i> < 1 × 10<sup>−10</sup>). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD.Yong-Chan KimByung-Hoon JeongMDPI AGarticleprion<i>PRNP</i>CJDpolymorphismSNPsusceptibilityBiology (General)QH301-705.5ENCells, Vol 10, Iss 3132, p 3132 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	prion <i>PRNP</i> CJD polymorphism SNP susceptibility Biology (General) QH301-705.5
spellingShingle	prion <i>PRNP</i> CJD polymorphism SNP susceptibility Biology (General) QH301-705.5 Yong-Chan Kim Byung-Hoon Jeong The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
description	Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrP<sup>Sc</sup>) derived from endogenous forms of prion protein (PrP<sup>C</sup>). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (<i>PRNP</i>) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the <i>PRNP</i> gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, <i>p</i> < 1 × 10<sup>−10</sup>). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the <i>PRNP</i> gene and susceptibility to sporadic CJD.
format	article
author	Yong-Chan Kim Byung-Hoon Jeong
author_facet	Yong-Chan Kim Byung-Hoon Jeong
author_sort	Yong-Chan Kim
title	The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
title_short	The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
title_full	The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
title_fullStr	The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
title_full_unstemmed	The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease
title_sort	first meta-analysis of the m129v single-nucleotide polymorphism (snp) of the prion protein gene (<i>prnp</i>) with sporadic creutzfeldt–jakob disease
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/b3a4b7bcefe744cdbf6e22c37f486ea2
work_keys_str_mv	AT yongchankim thefirstmetaanalysisofthem129vsinglenucleotidepolymorphismsnpoftheprionproteingeneiprnpiwithsporadiccreutzfeldtjakobdisease AT byunghoonjeong thefirstmetaanalysisofthem129vsinglenucleotidepolymorphismsnpoftheprionproteingeneiprnpiwithsporadiccreutzfeldtjakobdisease AT yongchankim firstmetaanalysisofthem129vsinglenucleotidepolymorphismsnpoftheprionproteingeneiprnpiwithsporadiccreutzfeldtjakobdisease AT byunghoonjeong firstmetaanalysisofthem129vsinglenucleotidepolymorphismsnpoftheprionproteingeneiprnpiwithsporadiccreutzfeldtjakobdisease
_version_	1718412672907608064

The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (<i>PRNP</i>) with Sporadic Creutzfeldt–Jakob Disease

Ejemplares similares