title: Genetic variants in KCNE1, KCNQ1, and NOS1AP in sudden unexplained death during daily activities in Chinese Han population.
abstract: 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 KCNE1, KCNQ1, and nitric oxide synthase gene NOS1AP were sequenced. A synonymous mutation, KCNE1 F54F T>C was identified in 2 SUD cases, which was absent in the control subjects. Neither genotype nor allele frequencies of KCNE1 and KCNQ1 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 NOS1AP 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 NOS1AP SNPs on SUD risk.
authors: Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510080, China.
authors: Jinglu
authors: J
authors: Huang
authors: Xiaoguang
authors: X
authors: Wang
authors: Bo
authors: B
authors: Hao
authors: Yijiu
authors: Y
authors: Chen
authors: Hong
authors: H
authors: Liu
authors: Li
authors: L
authors: Quan
authors: Dawei
authors: D
authors: Tang
authors: Lihui
authors: L
authors: Sheng
authors: Ming
authors: M
authors: Li
authors: Erwen
authors: E
authors: Huang
authors: Chao
authors: C
authors: Liu
authors: Bin
authors: B
authors: Luo
mesh_terms: D000203:Activities of Daily Living; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D003645:Death, Sudden / Q000208:ethnology / Q000209:etiology*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C489622:KCNE1 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; C488081:NOS1AP protein, human; D024642:Potassium Channels, Voltage-Gated
keywords: daily activities; forensic science; nitric oxide synthase 1 adaptor protein; potassium voltage-gated channel; single nucleotide polymorphisms; sudden unexplained death