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Phenotype-Specific Association of Single-Nucleotide Polymorphisms with Heart Failure and Preserved Ejection Fraction: a Genome-Wide Association Analysis of the Cardiovascular Health Study.
Wednesday,2020-11-18 16:30 America/Los_Angeles — ecterry
| Title | Phenotype-Specific Association of Single-Nucleotide Polymorphisms with Heart Failure and Preserved Ejection Fraction: a Genome-Wide Association Analysis of the Cardiovascular Health Study. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Kao, DP, Stevens, LM, Hinterberg, MA, Görg, C |
| Journal | J Cardiovasc Transl Res |
| Volume | 10 |
| Issue | 3 |
| Pagination | 285-294 |
| Date Published | 2017 Jun |
| ISSN | 1937-5395 |
| Keywords | Aged, Computational Biology, Databases, Genetic, European Continental Ancestry Group, Female, Gene Expression Profiling, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Heart Failure, Humans, Male, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, Predictive Value of Tests, Prognosis, Proteoglycans, Receptors, Transforming Growth Factor beta, Risk Assessment, Risk Factors, Stroke Volume, United States |
| Abstract | <p>Little is known about genetics of heart failure with preserved ejection fraction (HFpEF) in part because of the many comorbidities in this population. To identify single-nucleotide polymorphisms (SNPs) associated with HFpEF, we analyzed phenotypic and genotypic data from the Cardiovascular Health Study, which profiled patients using a 50,000 SNP array. Results were explored using novel SNP- and gene-centric tools. We performed analyses to determine whether some SNPs were relevant only in certain phenotypes. Among 3804 patients, 7 clinical factors and 9 SNPs were significantly associated with HFpEF; the most notable of which was rs6996224, a SNP associated with transforming growth factor-beta receptor 3. Most SNPs were associated with HFpEF only in the absence of a clinical predictor. Significant SNPs represented genes involved in myocyte proliferation, transforming growth factor-beta/erbB signaling, and extracellular matrix formation. These findings suggest that genetic factors may be more important in some phenotypes than others.</p> |
| DOI | 10.1007/s12265-017-9729-1 |
| Alternate Journal | J Cardiovasc Transl Res |
| PubMed ID | 28105587 |
| PubMed Central ID | PMC5894815 |
| Grant List | R01 LM008111 / LM / NLM NIH HHS / United States R01 LM009254 / LM / NLM NIH HHS / United States T15 LM009451 / LM / NLM NIH HHS / United States |
ePub date:
17/06