title: Relationship of genetic variation in the serotonin transporter gene (SLC6A4) and congenital and acquired cardiovascular diseases.
abstract: Recent reports have suggested an association between variation in the serotonin transporter and primary pulmonary hypertension and myocardial infarction. We set out to determine whether these associations were present in a population of patients who underwent SLC6A4 genotyping and to explore whether genetic variation in the serotonin transporter might be also associated with other cardiovascular functional and structural abnormalities. Included were 3473 patients who were genotyped for the SLC6A4 5HTTLPR polymorphism and a subset for rs25531 (n=816) and STin2 (n=819). An association was observed between 5HTTLPR and primary pulmonary hypertension (p=0.0130), anomalies of the cerebrovascular system (p<0.0001), and other anomalies of great veins (p=0.0359). The combined 5HTTLPR and rs25531 genotype was associated with tachycardia (p=0.0123). There was an association of the STin2 genotype with abnormal electrocardiogram (ECG) (p=0.0366) and abnormal cardiac study (0.0311). Overall, these results represent a step toward the understanding of the impact of SLC6A4 variation on cardiovascular pathology.
authors: 1 Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester, Minnesota.
authors: Ann M
authors: AM
authors: Moyer
authors: Denise L
authors: DL
authors: Walker
authors: Rajeswari
authors: R
authors: Avula
authors: Maria I
authors: MI
authors: Lapid
authors: Simon
authors: S
authors: Kung
authors: Sandra C
authors: SC
authors: Bryant
authors: Kelly K
authors: KK
authors: Edwards
authors: John L
authors: JL
authors: Black
authors: Victor M
authors: VM
authors: Karpyak
authors: Gen
authors: G
authors: Shinozaki
authors: Sheila G
authors: SG
authors: Jowsey-Gregoire
authors: Shawna L
authors: SL
authors: Ehlers
authors: Magdalena
authors: M
authors: Romanowicz
authors: Mark R
authors: MR
authors: Litzow
authors: William J
authors: WJ
authors: Hogan
authors: James R
authors: JR
authors: Rundell
authors: W Michael
authors: WM
authors: Hooten
authors: Linnea M
authors: LM
authors: Baudhuin
mesh_terms: D002318:Cardiovascular Diseases / Q000151:congenital* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins