Evidence map›Paper›PMID 39962380›Full record

ArticleBMC genomics2025

Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population.

Rui-Lin Liu, Yi-Feng Yang, Ke Gong, Lei Wang, Yao Yao, Li Xie

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Article in BMC genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Rui-Lin LiuDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
Yi-Feng YangDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
Ke GongDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
Lei WangDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
Yao YaoDepartment of blood transfusion, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
Li XieDepartment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China. xieli55@csu.edu.cn.

Funding

National Science Foundation for Young Scientists of China 8150020951Natural Science Foundation for Young Scientists of Hunan Province 2016JJ4099the Scientific research plan of the Hunan Provincial Health Commission 202204022475
6 · The paper itself

Abstract

backgroundPrimary cardiomyopathies are major causes of heart failure, placing a substantial burden on both individuals and society. Revealing its genetic profiles can lead to a better understanding of the mechanism and is critical for disease prevention and treatment.

methodPrimary cardiomyopathy patients were enrolled and whole exome sequence was conducted to analyze their genetic profiles. Retrospective clinical information extraction and analysis of sequence data were implemented.

resultsA total of 77 primary cardiomyopathy patients were enrolled, comprising 65 patients with dilated cardiomyopathy (DCM) and 12 with hypertrophic cardiomyopathy (HCM). Among the DCM patients, 13 variants classified as pathogenic (P) or likely pathogenic (LP) were identified in 12 patients (18.46%), predominantly in genes associated with the nuclear envelope and sarcomere. Among HCM patients, 6 P/LP variants were discovered in 6 (50%) patients. Taking variants of uncertain significance (VUS) into consideration, an analysis of the association between the number of variants carried by patients and their clinical characteristics revealed that DCM patients with more than one variant had a higher proportion of hyperuricemia.

conclusionsWe map a comprehensive profile of primary cardiomyopathy in Chinese population and, for the first time, identify a possible association between hyperuricemia and the number of genetic variants carried by DCM patients.

Indexed as

CardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, HypertrophicEast Asian PeopleExome SequencingGenetic Association StudiesAdultAgedChinaFemaleHumansMaleMiddle AgedPhenotypeRetrospective StudiesDilated cardiomyopathyGenetic profileGenotype-phenotype associationHypertrophic cardiomyopathyWhole exome sequence

Identifiers

PMID39962380
PMCPMC11834636

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