Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction
Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction
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发表时间：
2015
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通讯作者：
R. Do;N. Stitziel;H. Won;A. Jørgensen;S. Duga;P. Merlini;Adam Kiezun;M. Farrall;A. Goel
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作者：
R. Do;N. Stitziel;H. Won;A. Jørgensen;S. Duga;P. Merlini;Adam Kiezun;M. Farrall;A. Goel
1:1. We performed sample size extrapolations for genes with varying number of T1 mutations (25 th percentile, median and 75 th percentile of carriers with a T1 mutation for all genes discovered in the exome, Supplementary Figures 29–31). Whole exome sequencing was performed in 1,973 individuals from the phenotypic extremes. To test the hypothesis that low-frequency variants confer risk for myocardial infarction (MI), we performed follow-up statistical imputation and array-based genotyping of single nucleotide variants. To test the hypothesis that a burden of rare mutations in a gene confers risk for MI, we performed targeted re-sequencing and additional exome sequencing.
