Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome
Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome
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DOI：
10.1016/j.hrthm.2008.02.012
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发表时间：
2008-05-01
期刊：
影响因子：
5.5
通讯作者：
Ackerman, Michael J.
中科院分区：
文献类型：
--
作者：
Van Norstrand, David W.;Tester, David J.;Ackerman, Michael J.
背景S1103Y-SCN5A基因多态性被认为是非裔美国人发生心律失常、猝死的危险因素，包括一项对非裔美国人婴儿猝死综合征的尸检研究。目的本研究的目的是评估SCN5A编码的相对非洲-美国人特有的常见多态S1103Y是否在非裔美国人的猝死综合征中过度表达。方法对71例非裔美国人(37名女性和34名男性，平均年龄3+/2个月)原因不明的婴儿死亡进行了研究年龄范围从出生到11个月)被提交给梅奥诊所温德兰·史密斯·赖斯猝死基因组实验室进行死后基因测试。结果对71例非裔美国人SIDSCN5A外显子18进行定向突变分析，发现71例非裔美国人中有16例(22.5%)存在S1103Y多态，而在1,161例表面健康的成年非裔美国人中，有135例(11.6%)存在S1103Y多态(P=.01)。对显然与S1103Y相关的风险进行进一步的审查和量化似乎是有必要的。
BACKGROUND The S1103Y-SCN5A polymorphism has been implicated as a proarrhythmic, sudden death predisposing risk factor in African Americans, including one postmortem investigation of African-American infants with sudden infant death syndrome (SIDS).OBJECTIVE The purpose of this study was to assess whether the relatively African-American-specific common polymorphism S1103Y in the SCN5A-encoded cardiac sodium channel is over-represented in SIDS among African Americans.METHODS Seventy-one cases from a population-based cohort of unexplained infant deaths among African Americans (37 females and 34 males, average age 3 +/- 2 months, age range birth to 11 months) were submitted to the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory for postmortem genetic testing. Polymerase chain reaction and a restriction digest assay were performed to genotype this cohort for S1103Y.RESULTS Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS cohort (n = 71) revealed the S1103Y polymorphism in 16 (22.5%) of 71 African-American cases of SIDS compared to 135 (11.6%) of 1,161 ostensibly healthy adult African Americans (P =.01).CONCLUSION This study provides an independent assessment of the prevalence of S1103Y-SCN5A among African-American infants with sudden, unexpected, unexplained death prior to their first birthday. Further scrutiny and quantification of the risk apparently associated with S1103Y appear warranted.