Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population
Abstract Background As it is unclear whether there is genetic susceptibility to cardiorenal syndrome (CRS), we conducted a genome-wide association study of dilated cardiomyopathy (DCM)-induced heart failure (HF) associated with renal insufficiency (RI) in a Chinese population to identify putative su...
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BMC
2023-06-01
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| Series: | BMC Cardiovascular Disorders |
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| Online Access: | https://doi.org/10.1186/s12872-023-03370-0 |
| _version_ | 1797789905974198272 |
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| author | Yuexin Hu Liangli Jin Zhi Wang |
| author_facet | Yuexin Hu Liangli Jin Zhi Wang |
| author_sort | Yuexin Hu |
| collection | DOAJ |
| description | Abstract Background As it is unclear whether there is genetic susceptibility to cardiorenal syndrome (CRS), we conducted a genome-wide association study of dilated cardiomyopathy (DCM)-induced heart failure (HF) associated with renal insufficiency (RI) in a Chinese population to identify putative susceptibility variants and culprit genes. Methods A total of 99 Han Chinese patients with DCM-induced chronic HF were selected and divided into one of three groups, namely, HF with normal renal function (Group 1), HF with mild RI (Group 2) and HF with moderate to severe RI (Group 3). Genomic DNA was extracted from each subject for genotyping. Results According to Gene Ontology (GO) function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, top 10 lists of molecular function, cell composition and biological process of differential target genes and 15 signalling pathways were discriminated among the three groups. Additionally, sequencing results identified 26 significantly different single-nucleotide polymorphisms (SNPs) in the 15 signalling pathways, including three SNPs (rs57938337, rs6683225 and rs6692782) in ryanodine receptor 2 (RYR2) and two SNPs (rs12439006 and rs16958069) in RYR3. The genotype and allele frequencies of the five SNPs in RYR2 and RYR3 were significantly differential between HF (Group 1) and CRS (Group 2 + 3) patients. Conclusion Twenty-six significantly different SNP loci in 17 genes of the 15 KEGG pathways were found in the three patient groups. Among these variants, rs57938337, rs6683225 and rs6692782 in RYR2 and rs12439006 and rs16958069 in RYR3 are associated with RI in Han Chinese patients with heart failure, suggesting that these variants may be used to identify patients susceptible to CRS in the future. |
| first_indexed | 2024-03-13T01:57:15Z |
| format | Article |
| id | doaj.art-3caa983999384d87a0f4d49f4c8dbb08 |
| institution | Directory Open Access Journal |
| issn | 1471-2261 |
| language | English |
| last_indexed | 2024-03-13T01:57:15Z |
| publishDate | 2023-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cardiovascular Disorders |
| spelling | doaj.art-3caa983999384d87a0f4d49f4c8dbb082023-07-02T11:06:42ZengBMCBMC Cardiovascular Disorders1471-22612023-06-0123111310.1186/s12872-023-03370-0Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese populationYuexin Hu0Liangli Jin1Zhi Wang2Department of Cardiovascular Medicine, Affiliated Nanjing Brain Hospital, Nanjing Medical UniversityDepartment of Cardiovascular Medicine, Affiliated Nanjing Brain Hospital, Nanjing Medical UniversityDepartment of Cardiovascular Medicine, Affiliated Nanjing Brain Hospital, Nanjing Medical UniversityAbstract Background As it is unclear whether there is genetic susceptibility to cardiorenal syndrome (CRS), we conducted a genome-wide association study of dilated cardiomyopathy (DCM)-induced heart failure (HF) associated with renal insufficiency (RI) in a Chinese population to identify putative susceptibility variants and culprit genes. Methods A total of 99 Han Chinese patients with DCM-induced chronic HF were selected and divided into one of three groups, namely, HF with normal renal function (Group 1), HF with mild RI (Group 2) and HF with moderate to severe RI (Group 3). Genomic DNA was extracted from each subject for genotyping. Results According to Gene Ontology (GO) function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, top 10 lists of molecular function, cell composition and biological process of differential target genes and 15 signalling pathways were discriminated among the three groups. Additionally, sequencing results identified 26 significantly different single-nucleotide polymorphisms (SNPs) in the 15 signalling pathways, including three SNPs (rs57938337, rs6683225 and rs6692782) in ryanodine receptor 2 (RYR2) and two SNPs (rs12439006 and rs16958069) in RYR3. The genotype and allele frequencies of the five SNPs in RYR2 and RYR3 were significantly differential between HF (Group 1) and CRS (Group 2 + 3) patients. Conclusion Twenty-six significantly different SNP loci in 17 genes of the 15 KEGG pathways were found in the three patient groups. Among these variants, rs57938337, rs6683225 and rs6692782 in RYR2 and rs12439006 and rs16958069 in RYR3 are associated with RI in Han Chinese patients with heart failure, suggesting that these variants may be used to identify patients susceptible to CRS in the future.https://doi.org/10.1186/s12872-023-03370-0Heart failureRenal insufficiencyDilated cardiomyopathySingle-nucleotide polymorphismsCardiorenal syndrome |
| spellingShingle | Yuexin Hu Liangli Jin Zhi Wang Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population BMC Cardiovascular Disorders Heart failure Renal insufficiency Dilated cardiomyopathy Single-nucleotide polymorphisms Cardiorenal syndrome |
| title | Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population |
| title_full | Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population |
| title_fullStr | Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population |
| title_full_unstemmed | Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population |
| title_short | Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population |
| title_sort | genome wide association study of dilated cardiomyopathy induced heart failure associated with renal insufficiency in a chinese population |
| topic | Heart failure Renal insufficiency Dilated cardiomyopathy Single-nucleotide polymorphisms Cardiorenal syndrome |
| url | https://doi.org/10.1186/s12872-023-03370-0 |
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