Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11883-023-01177-0.pdf
Reference60 articles.
1. Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003;168(1):1–14.
2. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7(9):e016461.
3. Gratton J, Humphries SE, Futema M. Prevalence of FH-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank-Brief report. Arterioscler Thromb Vasc Biol. 2023;43(9):1737–42. The study included 140,439 European, 4067 South Asian and 3906 African participants in the UK BioBank. No statistical difference in the prevalence of an FH-causing variant was observed (1/288 in Europe, 1/260 in Africa and 1/226 in South Asia). Carriers of an FH-causing variant had significantly higher LDL-C concentrations than noncarriers in every ancestry group. There was no difference in mean (statin-use adjusted) LDL-C concentration in FH-variant carriers depending on their ancestry background.
4. NHS England. NHS long term plan [Internet] 2019 2022 https://www.longtermplan.nhs.uk/wp-content/uploads/2019/01/nhs-long-term-plan.pdf.
5. Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M, et al. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J. 2017;38(23):1832–9.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Lipoprotein apheresis and long-term cardiovascular health: a real answer for children with HoFH?;The Lancet Child & Adolescent Health;2024-07
2. Overcoming the real and imagined barriers to cholesterol screening in pediatrics;Journal of Clinical Lipidology;2024-05
3. Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia;Genes;2024-02-26
4. Newborn screening for lipid disorders;Current Opinion in Lipidology;2024-02-26
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3