ArticleGastroenterology2010
Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
Article in Gastroenterology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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40 citing papers in PubMed, 1 synthesis or guideline pooled it, 95 citations in OpenAlex.
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- Runt-related transcription factors: from pathogenesis to therapeutic targets in multiple-organ fibrosis.Frontiers in cell and developmental biology · 2025Review
- Effects of Transjugular Intrahepatic Portosystemic Shunt on Renal and Pulmonary Function in Hepatic Decompensation with and without Hepatorenal and Hepatopulmonary Syndromes: A Review.Journal of clinical and translational hepatology · 2024Review
- Imaging in hepatopulmonary syndrome-case report. A multicenter approach during the coronavirus pandemic.Journal of radiology case reports · 2023Article
- Molecular Genetics of Abnormal Redox Homeostasis in Type 2 Diabetes Mellitus.International journal of molecular sciences · 2023Review
- Hepatopulmonary syndrome.JHEP reports : innovation in hepatology · 2022Review
- Impact of hepatopulmonary syndrome in liver transplantation candidates and the role of angiogenesis.The European respiratory journal · 2022Article
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- Roles of Genetic Predisposition in the Sex Bias of Pulmonary Pathophysiology, as a Function of Estrogens : Sex Matters in the Prevalence of Lung Diseases.Advances in experimental medicine and biology · 2021Article
- [Diagnosis and therapeutic strategies for hepatopulmonary syndrome].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2020Article
- Hepatopulmonary Syndrome and Portopulmonary Hypertension: The Pulmonary Vascular Enigmas of Liver Disease.Clinical liver disease · 2020Review
- Vascular syndromes in liver cirrhosis.Clinical journal of gastroenterology · 2019Review
- Association between Serum Urate and Risk of Hypertension in Menopausal Women with XDH Gene.Journal of clinical medicine · 2019Article
- Correlations of MMP-2 and MMP-9 gene polymorphisms with the risk of hepatopulmonary syndrome in cirrhotic patients: A case-control study.The Kaohsiung journal of medical sciences · 2018Article
- Potential Clinical Targets in Hepatopulmonary Syndrome: Lessons From Experimental Models.Hepatology (Baltimore, Md.) · 2018Review
- Article
- Clinical Impact of Intrapulmonary Vascular Dilatation in Candidates for Liver Transplant.Chest · 2018Article
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Authors and funding
14 authors at 9 institutions in 1 country.
Funding
Abstract
BACKGROUND &
aimsHepatopulmonary syndrome (HPS) affects 10%-30% of patients with cirrhosis and portal hypertension and significantly increases mortality. Studies in experimental models indicate that pulmonary angiogenesis contributes to the development of HPS, but pathogenesis in humans is poorly understood. We investigated genetic risk factors for HPS in patients with advanced liver disease.
methodsWe performed a multicenter case-control study of patients with cirrhosis being evaluated for liver transplantation. Cases had an alveolar-arterial oxygen gradient > or = 15 mm Hg (or > or =20 mm Hg if age > 64 years) and contrast echocardiography with late appearance of microbubbles after venous injection of agitated saline (intrapulmonary vasodilatation); controls did not meet both criteria for case status. The study sample included 59 cases and 126 controls. We genotyped 1086 common single nucleotide polymorphisms (SNPs) in 94 candidate genes.
resultsForty-two SNPs in 21 genes were significantly associated with HPS after adjustments for race and smoking. Eight genes had at least 2 SNPs associated with disease: CAV3, ENG, NOX4, ESR2, VWF, RUNX1, COL18A1, and TIE1. For example, rs237872 in CAV3 showed an odds ratio of 2.75 (95% confidence interval: 1.65-4.60, P = .0001) and rs4837192 in ENG showed an odds ratio of 0.35 (95% confidence interval: 0.14-0.89, P = .027). Furthermore, variation in CAV3 and RUNX1 was associated with HPS in gene-based analyses.
conclusionsPolymorphisms in genes involved in the regulation of angiogenesis are associated with the risk of HPS. Further investigation of these biologic pathways might elucidate the mechanisms that mediate the development of HPS in certain patients with severe liver disease.
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