Journal
FORENSIC SCIENCE INTERNATIONAL
Volume 235, Issue -, Pages 14-18Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.forsciint.2013.12.007
Keywords
The ryanodine receptor 2 (RyR2) gene; Calcium release channel; Sudden unexplained nocturnal death syndrome; Single nucleotide polymorphism; Cardiac arrhythmia
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Funding
- National Natural Science Foundation of China [81172901, 81373238]
- Fundamental Research Funds for the Central Universities [11ykpy04]
- Natural Science Foundation of Guangdong [S2012010009045]
- National Science & Technology Pillar Program [2012BAK02B02]
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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 (chi(2) = 0.390, P > 0.05; chi(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. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
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