An insertion/deletion polymorphism within 3′UTR of RYR2 modulates sudden unexplained death risk in Chinese populations

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• 作者：Shouyu Wang^a ; ¹ ; Zhixiang Zhang^a ; ¹ ; Ya Yang^a ; Chaoqun Wang^a ; Ruiyang Tao^a ; Shuxiang Hu^a ; Zhixia Yin^a ; Qing Zhang^a ; Lijuan Li^a ; Yan He^b ; Shaohua Zhu^a ; Chengtao Li^c ; Suhua Zhang^c ; Jianhua Zhang^c ; Lihui Sheng^d ; Fangyu Wu^e ; Bin Luo^e ; ^{luobin@mail.sysu.edu.cn} ; Yuzhen Gao^a ; ^{yuzhengao@suda.edu.cn}
• 关键词：Sudden unexplained death ; Ryanodine receptor type-2 ; rs10692285 ; Indel polymorphism ; Genetic susceptibility
• 刊名：Forensic Science International
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：270
• 期：Complete
• 页码：165-172
• 全文大小：1215 K
• 卷排序：270

文摘

The rs10692285 polymorphism within the 3′UTR of RYR2 confer SUD risk. The genotype of rs10692285 was associated with RYR2 expression level. rs10692285 could alter local structure of RYR2 mRNA and microRNA binding. rs10692285 may become a potential marker for molecular diagnosis of SUD. Abnormal ion channel activity is very likely involved in SUD.