A novel allelic variant of the human serotonin transporter gene regulatory polymorphism

Delbrück, Sebastian; Wendel, Birgit; Grunewald, Ingrid; Sander, Thomas; Morris-Rosendahl, Deborah J.; Crocq, Marc‐Antoine; Berrettini, Wade H.; Hoehe, Margret R.

doi:10.1159/000134726

Cited by 66 publications

(43 citation statements)

References 17 publications

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“…The frequencies of the l and s alleles in this sample are consistent with the population (eg Delbruck et al, 1997;Gelernter et al, 1999). For example, in Caucasians, the frequencies for ll is about 3575% and sl/ss is about 6575% (l is about 60% and s about 40%).…”

Section: Resultssupporting

confidence: 80%

Effects of Serotonin Transporter Promoter Polymorphisms on Serotonin Function

Smith

Lotrich

Malhotra

et al. 2004

Neuropsychopharmacol

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The serotonin transporter promoter polymorphism (5-HTTLPR) has been associated with vulnerability to stress-induced depressive symptoms and with the speed and rate of response to antidepressant treatment. The goal of the present study was to evaluate the association between the 5-HTTLPR and the functional response of the serotonin system as measured by the neuroendocrine and cerebral metabolic response to intravenous administration of the selective serotonin reuptake inhibitor citalopram in normal control subjects. Genotyping was performed for 5-HTTLPR insertion/deletion polymorphism long (l) and short (s) variant alleles. The ll genotype was compared with the combined sl þ ss and with the ss genotype alone. Citalopram plasma concentrations did not differ significantly between groups. The s allele was associated with a less of an increase in prolactin and cortisol than the ll genotype. The s allele was associated with greater decreases in left frontal, precentral and middle temporal gyri compared to the ll genotype. The ll genotype was associated with greater decreases in right frontal, insula and superior temporal gyrus compared to the ss genotype. These findings suggest that 5-HTTLPR is associated with an altered functional response of the serotonin system, which may represent a neurobiologic substrate for the differential response to antidepressant treatment in late life and the emergence of neuropsychiatric symptoms in neurodegenerative disorders.

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Section: Resultssupporting

confidence: 80%

Effects of Serotonin Transporter Promoter Polymorphisms on Serotonin Function

Smith

Lotrich

Malhotra

et al. 2004

Neuropsychopharmacol

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“…97 In addition, up to 10 new alleles were discovered in the 5-HTT promoter polymorphism, some of which were only present in Japanese samples. [118][119][120][121][122] Also the allele frequency distribution of the DRD4 48-bp VNTR differs widely across ethnic groups. 123 As is evident from studies in affected populations, personality can be greatly affected by the disease status.…”

Section: Replicabilitymentioning

confidence: 99%

Genetics of personality: are we making progress?

2003

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For centuries, scientists are intrigued by the differences in personality between individuals. As early as in the ancient Greek civilization, people tried to formulate theories to systematize this diversity. With the increased interest in behavior genetics, personality was also considered a challenging phenotype. From the early start, studies suggested a heritable component in personality. After the successes of molecular genetic studies in unraveling the genetic basis of (mostly) monogenic diseases, the focus shifted towards complex traits, including psychiatric disorders. It was observed in several studies that personality measures differed between patients with psychiatric disorders and healthy controls. Therefore, normal personality was considered a viable endophenotype in the search for genes involved in psychiatric disorders such as affective disorders, ADHD and substance dependence. Genes that were to be found in studies on personality could be candidate genes for particular psychiatric disorders. In the course of time, however the study of genes for personality turned out to be at least as hard as the search for genes involved in other complex disorders. In this review, past studies, present problems and future directions concerning the study of personality genetics are discussed.

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“…A polymorphism within the 5-htt 5' upstream region (5-HTTLPR) has been reported, the majority of which is composed of either 14 (S) or 16 (L) repetitive elements. In humans, although infrequent, 18 and 20 repetitive elements (XL) are also present (18)(19)(20)(21). An in vitro transcriptional assay has indicated that the activity of the human 5-htt promoter is regulated by these polymorphic repetitive elements, resulting in differences in the efficacy of 5-HTT reuptake among the allelic variants (22).…”

Section: Introductionmentioning

confidence: 99%

Coronary artery disease and depression: Possible role of brain-derived neurotrophic factor and serotonin transporter gene polymorphisms

et al. 2009

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Abstract. Cardiovascular disease (CVD) and depression are two of the most common human health problems. Patients with depression have an increased risk of developing cardiovascular disease and mortality after experiencing a cardiac event. Both diseases are complex disorders that are influenced by genetic and environmental factors. Brain-derived neurotrophic factor (BDNF) plays a critical role in regulating both vascular development and response to injury, and promotes survival, differentiation, and maintenance of neurons in the peripheral and nervous system. Evidence suggests that BDNF can enhance serotoninergic transmission. Serotonin modulates different brain functions and is known to regulate sleep, appetite, pain and inflammation. The aims of the present casecontrol study were to investigate the possible role of BDNF Val66Met, 5-HTTLPR and -1438 G/A polymorphisms in the development of coronary artery disease (CAD) in patients with and without depression. Regarding BDNF, our data suggest an involvement of the AA genotype in the pathogenesis of CAD in females and in the predisposition to CAD associated with depression. Furthermore, it could be argued that the GG genotype is protective against CAD in the female population and against CAD associated with depression. In our CAD population we also observed a significant increase in the L/L genotype and a decrease in the S/L genotype with respect to the controls. A higher frequency of the L allele, responsible for enhancing the efficiency of transcription, was found in CAD patients. These findings may be responsible for the increased capacity of platelet serotonin uptake previously observed in patients with CAD. Although no differences were found for genotype and allelic frequencies of the -1438 G/A polymorphism between the CAD patients and controls, we cannot exclude the possible role of this receptor in coronary artery disease.

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A novel allelic variant of the human serotonin transporter gene regulatory polymorphism

Cited by 66 publications

References 17 publications

Effects of Serotonin Transporter Promoter Polymorphisms on Serotonin Function

Effects of Serotonin Transporter Promoter Polymorphisms on Serotonin Function

Genetics of personality: are we making progress?

Coronary artery disease and depression: Possible role of brain-derived neurotrophic factor and serotonin transporter gene polymorphisms

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