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首页> 外文期刊>BMC Medical Genomics >Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels
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Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels

机译：甘油三酯水平极低的患者中APOC3罕见变异的频率和表型后果

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High levels of triglycerides (TG ≥200?mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. Precision medicine aims to capitalize on recent findings that rare variants such as APOC3 R19X (rs76353203) are associated with?risk of disease, but it is unclear how population-based associations can be best translated in clinical settings at the individual-patient level. To explore the potential usefulness of screening for genetic predictors of cardiovascular disease, we surveyed BioVU, the Vanderbilt University Medical Center’s biorepository linked to de-identified electronic health records (EHRs), for APOC3 19X mutations among adult European American patients (?45 and??55?years of age for men and women, respectively) with the lowest percentile of TG levels. The initial search identified 262 patients with the lowest TG levels in the biorepository; among these, 184 patients with sufficient DNA and the lowest TG levels were chosen for Illumina ExomeChip genotyping. A total of two patients were identified as heterozygotes of APOC3 R19X for a minor allele frequency (MAF) of 0.55% in this patient population. Both heterozygous patients had only a single mention of TG in the EHR (31 and 35?mg/dL, respectively), and one patient had evidence of previous cardiovascular disease. In this patient population, we identified two patients who were carriers of the APOC3 19X null variant, but only one lacked evidence of disease in the EHR highlighting the challenges of inclusion of functional or previously associated genetic variation in clinical risk assessment.
机译：高甘油三酸酯（TG≥200？mg / dL）是心血管疾病的新兴危险因素。相反，极低的TG与降低心血管疾病的风险有关。精密医学旨在利用最近的发现，即诸如APOC3 R19X（rs76353203）的罕见变体与疾病风险相关，但尚不清楚如何在个人患者水平上以人群为基础的关联在临床环境中得到最佳翻译。为了探索筛查心血管疾病的遗传预测指标的潜在有用性，我们调查了BioVU（范德比尔特大学医学中心的生物存储库，该存储库与身份不明的电子健康记录（EHR）相关联）在成年欧美患者中的APOC3 19X突变（> 45和男性和女性的年龄分别≥55岁和TG水平最低。初步搜索确定了262名TG最低的患者。其中，选择了184名具有足够DNA和最低TG水平的患者进行Illumina ExomeChip基因分型。在该患者人群中，总共有2名患者被鉴定为APOC3 R19X的杂合子，次要等位基因频率（MAF）为0.55％。两名杂合患者在EHR中仅提及TG（分别为31和35？mg / dL），并且一名患者有先前心血管疾病的证据。在该患者人群中，我们确定了两名患者是APOC3 19X null变异的携带者，但只有一名缺乏EHR中疾病的证据，这突出了在临床风险评估中纳入功能性或先前相关的遗传变异的挑战。

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