Cardiac Disease Associated Genetic Variants in Yi Nationality in Regions with High Incidence of Yunnan Sudden Unexplained Death / 法医学杂志
Journal of Forensic Medicine
; (6): 497-501, 2020.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-985143
Biblioteca responsável:
WPRO
ABSTRACT
Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death (YNSUD) in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages (inpatient group) and 197 healthy Yi villagers from neighboring villages (control group). Fifty-two single nucleotide variants (SNVs) of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram (ECG) examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 (rs2278792, c.2318G>A, p.R773K) of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in inpatient group was higher than that in control group (P<0.05). Abnormal ECG changes were detected in 71 individuals (34.6%) in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise (counterclockwise) rotation, left (right) axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Doença Cardiovascular
/
Anomalias Congênitas e Cromossômicas
/
Outras Doenças Circulatórias
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Etnicidade
/
China
/
Incidência
/
Morte Súbita Cardíaca
/
Displasia Arritmogênica Ventricular Direita
/
Morte Súbita
/
Mutação
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Forensic Medicine
Ano de publicação:
2020
Tipo de documento:
Artigo