High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15310%2F22%3A73615462" target="_blank" >RIV/61989592:15310/22:73615462 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/22:10437292 RIV/61989592:15110/22:73615462 RIV/00064203:_____/22:10437292 RIV/00216208:11130/22:10437292 RIV/00098892:_____/22:10157188

Result on the web

<a href="http://www.mdpi.com/2075-1729/12/1/121" target="_blank" >http://www.mdpi.com/2075-1729/12/1/121</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/life12010121" target="_blank" >10.3390/life12010121</a>

Result language

angličtina

Original language name

High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

Original language description

Parkinson’s disease and parkinsonism are relatively common neurodegenerative disorders.This study aimed to assess potential genetic risk factors of haplotypes in genes associated with parkinsonism in a population in which endemic parkinsonism and atypical parkinsonism have recently been found. The genes ADH1C, EIF4G1, FBXO7, GBA, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1 PLA2G6, SNCA, UCHL1, and VPS35 were analyzed in 62 patients (P) and 69 age-matched controls from the researched area (C1). Variants were acquired by high-throughput sequencing using Ion Torrent workflow. As another set of controls, the whole genome sequencing data from 100 healthy non-related individuals from the Czech population were used (C2); the results were also compared with the Genome Project data (C3). We observed shared findings of four intron (rs11564187, rs36220738, rs200829235, and rs3789329) and one exon variant (rs33995883) in the LRRK2 gene in six patients. A comparison of the C1–C3 groups revealed significant differences in haplotype frequencies between ratio of 2.09 for C1, 1.65 for C2, and 6.3 for C3, and odds ratios of 13.15 for C1, 2.58 for C2, and 7.6 for C3 were estimated. The co-occurrence of five variants in the LRRK2 gene (very probably in haplotype) could be an important potential risk factor for the development of parkinsonism, even outside the recently described pedigrees in the researched area where endemic parkinsonism is present.

Czech name

—

Czech description

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Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

—

OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Life

ISSN

2075-1729

e-ISSN

2075-1729

Volume of the periodical

12

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

8

Pages from-to

121

UT code for WoS article

000758708300001

EID of the result in the Scopus database

2-s2.0-85123082622