Dataset Information

Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality.

ABSTRACT: This study is to investigate whether the known mutations P.R1205H and P.A502V were pathogenic factors of Parkinson disease (PD) in Xinjiang Uygur and Han people.A case-control study with polymerase chain reaction-restriction fragment length polymorphism method was performed on 150 cases of PD and 130 cases of age, sex, and national-matched healthy controls for rs200221361 polymorphism analysis and Sanger sequencing. Specific mutations were chosen for further sequencing in a case-control study.The 3 variants located on the exon 10, and the rs200221361 was a nonsynonymous variant. The frequencies of rs200221361 genotype and allele between PD and control groups in Uygur and Han people showed no significant difference (for genotype, ??=?0.91, P?>?.05; for allele, ??=?0.91, P?>?.05). Statistical analysis showed that there were no differences in allele and genotype frequencies of rs200221361 genotype and allele between PD and control groups among the age, gender, or race (P?>?.05).P.Ala502Val and P.Arg1205H may not be pathogenic mutations to PD in Xinjiang Uygur and Han people. The polymorphism of the rs200221361 may have no association with the occurrence of PD in Uygur and Han people of Xinjiang.

SUBMITTER: Ma Y

PROVIDER: S-EPMC6392835 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality.

Ma Yu Y Zheng Daxiong D Li Hongyan H

Medicine 20180501 18

This study is to investigate whether the known mutations P.R1205H and P.A502V were pathogenic factors of Parkinson disease (PD) in Xinjiang Uygur and Han people.A case-control study with polymerase chain reaction-restriction fragment length polymorphism method was performed on 150 cases of PD and 130 cases of age, sex, and national-matched healthy controls for rs200221361 polymorphism analysis and Sanger sequencing. Specific mutations were chosen for further sequencing in a case-control study.Th ...[more]

PMID: 29718834

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Project description:The morbidity of coronary artery disease (CAD) in the Uygur population of Xinjiang was much higher than the national average. Clopidogrel is the most commonly used medication worldwide in dual antiplatelet therapy for CAD, and the response of clopidogrel is affected by CYP2C19, PON1, and ABCB1 genetic polymorphisms. The distribution of CYP2C19*17, ABCB1, and PON1 genetic polymorphisms in Han and Uygur populations with CAD of Xinjiang has not been investigated.This study aimed to investigate the frequencies of CYP2C19, PON1, and ABCB1 genetic polymorphisms, and to identify the metabolizer phenotype of CYP2C19 in Han and Uygur populations with CAD in Northwestern Xinjiang, China. We identified 602 Han and 527 Uygur patients from 2014 through 2019 and studied genotypes for selected allele polymorphisms using sequencing by hybridization.There were significantly different allele frequencies and genotype frequencies between the 2 ethnic groups in terms of CYP2C19*2, *3, *17, ABCB1 and PON1, (P?<?.05). For CYP2C19*17, the frequency of TT genotype was 2.5% in Uygur patients, but it was undetectable in Han patients. In both the intermediate and poor metabolizer groups, the genotypes polymorphisms CYP2C19*2, *3, *17 were significantly less common in Uygur patients than in Han patients (P?<?.001). By contrast, the proportion of ultra-metabolizers as defined by CYP2C19*2, *3, *17 polymorphisms significantly higher in Uygur patients (18.6%) than in Han patients (1.7%, P?<?.001). The CYP2C19*2 frequency was significantly different between Han patients and Han healthy groups (P?<?.001), while the CYP2C19*3 frequency was significantly different between Uygur patients and Uygur healthy groups (P?<?.001).Our study supports the notion of interethnic differences in terms of CYP2C19, PON1, and ABCB1 polymorphisms and CYP2C19 genotype-defined clopidogrel metabolic groups. These finding could provide valuable data and insights into personalized CAD treatment for the Uygur and Han populations in Xinjiang.

Dataset Information

Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality.

Publications

Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality.

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