Serotonin transporter polymorphisms in patients with portopulmonary hypertension

• Published in: Chest Vol. 135; no. 6; p. 1470
• Main Authors: Roberts, Kari E, Fallon, Michael B, Krowka, Michael J, Benza, Raymond L, Knowles, James A, Badesch, David B, Brown, Jr, Robert S, Taichman, Darren B, Trotter, James, Zacks, Steven, Horn, Evelyn M, Kawut, Steven M
• Format: Journal Article
• Language: English
• Published: United States 01-06-2009
• Subjects: Adult; Alleles; Case-Control Studies; Confidence Intervals; Echocardiography, Transesophageal; Female; Genetic Predisposition to Disease - epidemiology; Genotype; Humans; Hypertension, Portal - diagnosis; Hypertension, Portal - epidemiology; Hypertension, Portal - genetics; Hypertension, Pulmonary - diagnosis; Hypertension, Pulmonary - epidemiology; Hypertension, Pulmonary - genetics; Incidence; Liver Diseases - diagnosis; Liver Diseases - epidemiology; Liver Diseases - surgery; Liver Transplantation; Logistic Models; Male; Middle Aged; Odds Ratio; Polymorphism, Single Nucleotide; Preoperative Care - methods; Probability; Prognosis; Risk Assessment; Sensitivity and Specificity; Serotonin Plasma Membrane Transport Proteins - genetics; Serotonin Plasma Membrane Transport Proteins - metabolism; Severity of Illness Index; Survival Rate
• ISSN: 1931-3543
• DOI: 10.1378/chest.08-1909

The long allele of a functional promoter polymorphism in the serotonin transporter (SERT) is associated with an increased risk of some forms of pulmonary arterial hypertension. We hypothesized that the long allele or other polymorphisms in SERT would be associated with an increased risk of portopulmonary hypertension (PPHTN) in patients with advanced liver disease.
We performed a multicenter case-control study. Subjects undergoing liver transplant evaluation at seven centers were prospectively screened for the presence of PPHTN using transthoracic echocardiography. PPHTN was confirmed by right heart catheterization using standard criteria.
The study sample included 30 case patients with PPHTN and 109 control subjects with advanced liver disease. There was no significant association between the long allele and case status in an adjusted additive model (odds ratio, 0.63; 95% confidence interval, 0.33 to 1.21; p = 0.17). If anything, LL genotype tended to be associated with a lower risk of PPHTN. There were no associations between other SERT polymorphisms and PPHTN.
SERT polymorphisms are not associated with the risk of PPHTN in patients with advanced liver disease. Other clinical or genetic risk factors may play a role in this complication of portal hypertension.