Key result
Serotonin transporter gene variants linked to pulmonary hypertension and cerebrovascular anomalies.
Why the study?
Recent reports suggested associations between serotonin transporter genetic variation and primary pulmonary hypertension and myocardial infarction, but broader cardiovascular associations were unclear.
Is genetic variation in the serotonin transporter gene (SLC6A4) associated with congenital and acquired cardiovascular diseases?
Observational (n=3,473)
Is genetic variation in the serotonin transporter gene (SLC6A4) associated with congenital and acquired cardiovascular diseases?
p-value: p=0.0130
Genetic variations in the serotonin transporter gene (SLC6A4) are associated with various cardiovascular conditions, including primary pulmonary hypertension and tachycardia.
Supports SLC6A4 association with pulmonary hypertension and cerebrovascular anomalies; hypothesis-generating and requires prospective validation before clinical use.
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.
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Moyer et al. (2015) conducted an observational in Cardiovascular functional and structural abnormalities (n=3,473). SLC6A4 genetic variation (5HTTLPR, rs25531, STin2 polymorphisms) was evaluated on Primary pulmonary hypertension and other cardiovascular abnormalities (p=0.0130). Genetic variation in the serotonin transporter gene (SLC6A4 5HTTLPR) was associated with primary pulmonary hypertension (p=0.0130) and cerebrovascular anomalies (p<0.0001).
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