Serotonin Transporter Polymorphisms in Familial and Idiopathic Pulmonary Arterial Hypertension

• DOI: 10.1164/rccm.200509-1361oc
• Publication Date: 2005-12-10T01:43:56Z
• Authors: Elisabeth D. Willers; John H. Newman; James E. Loyd; Ivan M. Robbins; Lisa A. Wheeler; Melissa A. Prince; Krista C. Stanton; Joy A. Cogan; James R. Runo; Daniel Byrne; Marc Humbert; Gerald Simonneau; Benjamin Sztrymf; Jane A. Morse; James A. Knowles; Kari E. Roberts; Jude J. McElroy; Robyn J. Barst; John A. Phillips
• Keywords: BMPR2

Rationale: Serotonin is a pulmonary vasoconstrictor and smooth muscle cell mitogen. The serotonin transporter (SERT) abundant in vascular muscle. Compared with the short (S) allele, long (L) SERT promoter allele associated increased transcription more severe hypertension cohort of patients chronic obstructive disease, was prevalent idiopathic arterial (IPAH), compared control subjects.Objective: We hypothesized that L would associate an earlier age at diagnosis and/or shorter survival interval (PAH) than S allele.Methods: promoters from 166 familial PAH (FPAH), 83 IPAH, 125 subjects were sequenced. One hundred twenty-seven FPAH had known mutation bone morphogenetic protein receptor 2 (BMPR2).Results: mean 35.8 yr 41.1 IPAH (p = 0.02). There no significant differences distribution LL, LS, or SS genotypes FPAH, unaffected BMPR2 carriers. In LL genotype < 0.02).Conclusions: these do not correlate interval. correlates SL SS, although among groups similar. correlation polymorphism suggests possible relationship between BMPR2.