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Article

Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.

Clinical genetics - 1 Mar 2024

Zhou Yingchao, Luo Gang, Zhang Ai, Gao Shuai, Tang Yaqi, Du Zhanhui, Pan Silin

Abstract excerpt

Familial hypercholesterolemia (FH) is defined as a monogenic disease, characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. FH remains underdiagnosed and undertreated in Chinese. We whole-genome sequenced 6820 newborns from Qingdao of China to investigate the FH-related gene (LDLR, APOB, PCSK9) mutation types, carrier ratio and genotype-phenotype correlation. In this study, the prevalence...

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Share to Cholesterol, LDL
Share to Diabetes, Cardiovascular Risks, and Lipoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Infant, Newborn

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Share to Proprotein Convertase 9

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PMID: 38018368
DOI: 10.1111/cge.14453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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