生殖载体查:在美国确定家庭高胆固醇血症风险的家庭
Vivienne Souter1, Emily Becraft1, Samantha Brummitt1
1Natera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).
Circulation. Genomic and precision medicine
|March 20, 2024
概括
与家族性高胆固醇血症相关的LDLR基因的致病性或可能致病性变异在接受生殖载体查的妇女中很常见. 这突出了早期心血管疾病风险识别的机会.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 生殖健康 生殖健康
背景情况:
- 家族性高胆固醇血症 (FH) 是一种被诊断不足的遗传性疾病.
- 早期发现FH对于预防心血管疾病至关重要.
- 生殖载体查为FH变种检测提供了一个潜在的途径.
结论:
- 在查的人群中,LDLR基因的致病或可能致病变体普遍存在.
- 将FH基因查整合到生殖载体查计划中,可以识别患有心血管疾病风险的个体.
- 这种方法促进了主动的心血管风险管理.
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