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Genetic Variants in KCNE 1, KCNQ 1, and NOS 1 AP in Sudden Unexplained Death During Daily Activities in Chinese Han Population
Author(s) -
Huang Jinglu,
Wang Xiaoguang,
Hao Bo,
Chen Yijiu,
Liu Hong,
Quan Li,
Tang Dawei,
Sheng Lihui,
Li Ming,
Huang Erwen,
Liu Chao,
Luo Bin
Publication year - 2015
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/1556-4029.12687
Subject(s) - genotype , biology , genetics , microbiology and biotechnology , allele frequency , exon , allele , sudden death , population , gene , medicine , environmental health
Fifty‐six sudden unexplained death ( SUD ) cases were collected from Chinese Han population, which occurred during daily activities and were autopsy negative in comprehensive postmortem autopsy. The coding exons of potassium channel genes KCNE 1, KCNQ 1, and nitric oxide synthase gene NOS 1 AP were sequenced. A synonymous mutation, KCNE 1 F54F T>C was identified in 2 SUD cases, which was absent in the control subjects. Neither genotype nor allele frequencies of KCNE 1 and KCNQ 1 exhibited a significant difference between the SUD and control group. In contrast, the allele frequency ( p = 2.7 × 10 −10 ) and genotype frequency ( p = 5.9 × 10 −7 ) of rs3751284, and the genotype frequency ( p = 2.9 × 10 −2 ) of rs348624 in NOS 1 AP of SUD were significantly different from that of controls ( p < 0.05). Our study suggested that rs3751284 and rs348624 might be susceptibility loci for SUD during daily activities. Larger sample sizes and further molecular studies are needed to confirm or exclude an effect of the NOS 1 AP SNP s on SUD risk.