Genetic Variants in KCNE1, KCNQ1, and NOS1AP in Sudden Unexplained Death During Daily Activities in Chinese Han Population |
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| Authors: | Jinglu Huang M.D. Xiaoguang Wang M.D. Ph.D. Bo Hao M.D. Yijiu Chen Ph.D. Hong Liu B.D. Li Quan Ph.D. Dawei Tang M.D. Lihui Sheng B.D. Ming Li M.D. Erwen Huang Ph.D. Chao Liu Ph.D. Bin Luo M.D. Ph.D. |
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| Affiliation: | 1. Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat‐sen University, Guangzhou, 510080 China;2. Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, Shanghai, 200063 China;3. Guangzhou Institute of Criminal Science and Technology, Forensic pathology laboratory of China Public Security Ministry, Guangzhou, 510030 China;4. Shenzhen Institute of Criminal Science and Technology, Shenzhen, 518000 China;5. Additional information and reprint requests:;6. Bin Luo, M.D., Ph.D;7. Department of Forensic Pathology;8. Zhongshan School of Medicine;9. Sun Yat‐sen University;10. No.74 Zhongshan Road II;11. Guangzhou 510080;12. China;13. E‐mail: |
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| 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. |
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| Keywords: | forensic science sudden unexplained death potassium voltage‐gated channel nitric oxide synthase 1 adaptor protein single nucleotide polymorphisms daily activities |
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