ArticleCirculation. Cardiovascular genetics2011
Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy.
Article in Circulation. Cardiovascular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- The relationship between pre-eclampsia and peripartum cardiomyopathy: a systematic review and meta-analysis.Journal of the American College of Cardiology · 2013Pooled it
- A Genome-Wide Association Study of Takotsubo Syndrome.JACC. Basic to translational science · 2026Article
- Aims and Rationale of a National Registry Integrating Clinical, Echocardiographic, and Multi-Omics Profiling to Promote Precision Medicine in Peripartum Cardiomyopathy.Biomedicines · 2025Article
- Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future.Current cardiology reports · 2025Review
- Cardiac Magnetic Resonance Guidance for the Pathogenetic Definition of Cardiomyopathies.Current cardiology reports · 2025Review
- Hypertensive Disorders of Pregnancy and Peripartum Cardiomyopathy: A Meta-Analysis of Prevalence and Impact on Left Ventricular Function and Mortality.Journal of clinical medicine · 2025Review
- What Do We Know about Peripartum Cardiomyopathy? Yesterday, Today, Tomorrow.International journal of molecular sciences · 2024Review
- Diagnosis and management of peripartum cardiomyopathy and recurrence risk.International journal of cardiology. Congenital heart disease · 2024Article
- Biomarkers in Peripartum Cardiomyopathy-What We Know and What Is Still to Be Found.Biomolecules · 2024Review
- The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent.Heart failure reviews · 2023Review
- Review of Randomized Controlled Trials in Patients with Peripartum Cardiomyopathy.Current cardiology reviews · 2023Article
- Pathophysiology and risk factors of peripartum cardiomyopathy.Nature reviews. Cardiology · 2022Review
- A bibliometric review of peripartum cardiomyopathy compared to other cardiomyopathies using artificial intelligence and machine learning.Biophysical reviews · 2022Review
- Peripartum cardiomyopathy: a global effort to find the cause and cure for the rare and little understood disease.Biophysical reviews · 2022Review
- Maternal Morbidity and Mortality: Are We Getting to the "Heart" of the Matter?Journal of women's health (2002) · 2021Review
- Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.Genes · 2021Review
- Advances in the Genetics and Genomics of Heart Failure.Current cardiology reports · 2020Review
- The Role of Genetics in Peripartum Cardiomyopathy.Journal of cardiovascular translational research · 2017Review
- A contemporary review of peripartum cardiomyopathy.Clinical medicine (London, England) · 2017Review
- Clinical and Genetic Determinants of Cardiomyopathy Risk among Hematopoietic Cell Transplantation Survivors.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Article
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Authors and funding
19 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPeripartum (PP) cardiomyopathy (CM) is a rare condition of unknown etiology that occurs in late pregnancy or early postpartum. Initial evidence suggests that genetic factors may influence PPCM. This study evaluated and replicated genome-wide association of single nucleotide polymorphisms with PPCM. METHODS AND
resultsGenome-wide single nucleotide polymorphisms in women with verified PPCM diagnosis (n=41) were compared separately with local control subjects (n=49 postmenopausal age-discordant women with parity ≥1 and no heart failure) and iControls (n=654 women ages 30 to 84 years with unknown phenotypes). A replication study of independent population samples used new cases (PPCM2, n=30) compared with new age-discordant control subjects (local2, n=124) and with younger control subjects (n=89) and obstetric control subjects (n=90). A third case set of pregnancy-associated CM cases not meeting strict PPCM definitions (n=29) was also studied. In the genome-wide association study, 1 single nucleotide polymorphism (rs258415) met genome-wide significance for PPCM versus local control subjects (P=2.06×10(-8); odds ratio [OR], 5.96). This was verified versus iControls (P=7.92×10(-19); OR, 8.52). In the replication study for PPCM2 cases, rs258415 (ORs are per C allele) replicated at P=0.009 versus local2 control subjects (OR, 2.26). This replication was verified for PPCM2 versus younger control subjects (P=0.029; OR, 2.15) and versus obstetric control subjects (P=0.013; OR, 2.44). In pregnancy-associated cardiomyopathy cases, rs258415 had a similar effect versus local2 control subjects (P=0.06; OR, 1.79), younger control subjects (P=0.14; OR, 1.65), and obstetric control subjects (P=0.038; OR, 1.99).
conclusionsGenome-wide association with PPCM was discovered and replicated for rs258415 at chromosome 12p11.22 near PTHLH. This study indicates a role of genetic factors in PPCM and provides a new locus for further pathophysiological and clinical investigation.
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