Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
To investigate the genetic variants of the RyR2 gene in sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population, we genetically screened 29 of the 105 coding exons of the RyR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular cardiomyopathy (ARVC) in sporadic SUNDS victims using polymerase chain reaction (PCR) and direct sequencing methods. Genomic DNA was extracted from blood samples of 127 SUNDS cases and 165 healthy unrelated controls. None of the published or novel RyR2 missense mutations were found in 127 SUNDS cases. A total of sixteen genetic variants of the RyR2 gene were identified, comprised of: one novel synonymous coding mutation (c.13710C>A), one novel synonymous rare polymorphism (c.14871C>T), and fourteen previously reported polymorphisms. The genotype and allele frequency of previously reported missense polymorphism c.5656G>A (G1886S) was of no statistical difference between SUNDS cases and controls (x(2)=0.390, P>0.05; x(2)=0.271, P>0.05). This is the first report of genetic phenotype of RyR2 gene of SUNDS in the southern Chinese Han population. Previously reported plausible pathogenic missense polymorphism G1886S may not be an independent predisposition factor of SUNDS in the southern Chinese Han population. The association of genetic variants of the RyR2 gene with SUNDS needs further elucidation.
Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Lei
L
Huang
Guangzhou Institute of Forensic Science, Guangzhou 510030, China.
Chao
C
Liu
Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Shuangbo
S
Tang
Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Terry
T
Su
Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China. Electronic address: chengjd@mail.sysu.edu.cn.
Jianding
J
Cheng
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002681:China; D003645:Death, Sudden / Q000453:epidemiology*; D005006:Ethnicity / Q000235:genetics*; D005091:Exons; D053803:Forensic Genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017421:Sequence Analysis; D055815:Young Adult
D019837:Ryanodine Receptor Calcium Release Channel
Calcium release channel; Cardiac arrhythmia; Single nucleotide polymorphism; Sudden unexplained nocturnal death syndrome; The ryanodine receptor 2 (RyR2) gene