Population studies of polymorphisms of the serotonin transporter protein gene

Gelernter, Joel; Cubells, Joseph F.; Kidd, Justin; Pakstis, Andrew J.; Kídd, Kenneth K.

doi:10.1002/(sici)1096-8628(19990205)88:1<61::aid-ajmg11>3.0.co;2-k

Cited by 212 publications

(45 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…3, which shows that the 5-HTTLPR short allele (14 repeats) had a somewhat lower frequency (0.42) in healthy Caucasian population than the 5-HTTLPR long allele (16 repeats, frequency = 0.58). These results are in a good correlation with the Caucasian population data of Gelertner et al [23]. According to our knowledge, no other size variations have been found among Caucasians, however, other repeat numbers than 14 and 16 were shown in Japanese (19,20 and 22 repeats) [24] and Israeli populations (18 repeats) [25].…”

Section: Resultssupporting

confidence: 42%

High‐throughput genotyping of repeat polymorphism in the regulatory region of serotonin transporter gene by gel microchip electrophoresis

Nemoda¹,

Rónai²,

Székely³

et al. 2001

Electrophoresis

View full text Add to dashboard Cite

Large-scale genotyping of the repeat polymorphism in the regulatory region of the serotonin transporter gene (5-HTTLPR) was attempted by polymerase chain reaction (PCR) amplification followed by gel microchip electrophoresis analysis. The multilane (96) format of the gel microchip system allowed parallel separation of a large number of samples. The separation and visualization of the PCR amplicons from either the 5-HTTLPR short allele (number of repeats are 14) or the 5-HTTLPR long form (16 repeats) was completed in a few minutes. Genotyping of healthy Caucasian individuals showed that the short allele had a somewhat lower frequency (0.42) than the long form (0.58), and the genotype frequencies fulfilled the criteria of the Hardy-Weinberg equilibrium (chi = 0.012, p = 0.994). Based on these results, gel microchip electrophoresis system proved to be a powerful tool for high throughput genotyping of repeat polymorphism.

show abstract

Section: Resultssupporting

confidence: 42%

High‐throughput genotyping of repeat polymorphism in the regulatory region of serotonin transporter gene by gel microchip electrophoresis

Nemoda¹,

Rónai²,

Székely³

et al. 2001

Electrophoresis

View full text Add to dashboard Cite

show abstract

“…In other words, the S form of this variant is associated with lower basal and induced transcriptional efficiency of the SERT gene promoter, resulting in lower serotonin reuptake activity and longer serotonergic activity than for the L form [4,5]. Both the 5-HTTLPR and the VNTR genetic polymorphisms have been extensively investigated in genetic association studies for various complex behavioral traits and disorders [5,[9][10][11][23][24][25][26][27][28].…”

Section: Discussionmentioning

confidence: 94%

“…Ethnic genotype 2.2 ± 0.9 2.0 ± 0.6 1.0 ± 0.8 * * P < 0.05, L/L vs. S/S and S/L group. differences in the 5-HTTLPR and VNTRs in intron 2 of healthy subjects in different nations are reported in Tables 4 and 5 [12][13][14][15][23][24][25][26][27][28]. The allele frequencies and genotype frequencies of Chinese people demonstrated in this study were similar to those of Korean and Japanese but different from those reported in Western countries.…”

Section: Discussionmentioning

confidence: 99%

“…Two alleles of the VNTR region in intron 2 (STin2.10 and STin2.12) were detected, while the 9-repeat allele (STin2.9) was not observed in either IBS patients or controls. However, at the 5-HTTLPR polymorphisms, an extralong allele (20 repeats), which has been found in some populations including Chinese and Japanese [23], in addition to the long and short alleles, was detected in three subjects (two IBS patients and one control). In this study, the extralong allele was classified as the long allele for genotype characterization.…”

Section: Polymorphisms Of the Sert Genementioning

confidence: 99%

See 1 more Smart Citation

The Association of Serotonin Transporter Genetic Polymorphisms and Irritable Bowel Syndrome and Its Influence on Tegaserod Treatment in Chinese Patients

Nie

Xie

et al. 2007

Dig Dis Sci

View full text Add to dashboard Cite

The aims of this study were to investigate the relationship of genetic polymorphisms of the serotonin reuptake transporter and the clinical subtypes of irritable bowel syndrome and its influence on the efficacy of tegaserod in Chinese irritable bowel syndrome patients with constipation. Genetic polymorphisms were analyzed in 87 patients and 96 controls, then 41 irritable bowel syndrome patients with constipation received tegaserod for 4 weeks. The primary efficacy variable was the responder rate measured by Subject's Global Assessment of Relief. Secondary efficacy assessed the changes of individual symptoms weekly. There was no significant difference in genotype frequencies between the patients as a whole and the control group. The frequency of the L/L genotype in the serotonin transporter gene-linked polymorphic region was significantly higher in patients with constipation than in controls (25.0% vs. 7.3%). Responder rates to tegaserod were significantly higher in the S/S (85.0%) and L/S (70.0%) than in the L/L genotype (36.4%). All secondary variables also significantly improved in the S/S and L/S groups compared to the L/L group. This study suggests the hypothesis that individuals with the L/L genotype are vulnerable to development of irritable bowel syndrome with constipation, and patients with the L/L genotype respond poorly to treatment with a routine dose of tegaserod.

show abstract

“…Polymorphism of the serotonin transporter 5HTT was investigated using specific primers for 5HTTLPR suggested by Gelernter et al (1999). PCR amplification was performed in accordance to Nonnis Marzano et al (2008).…”

Section: Methodsmentioning

confidence: 99%

The potential role of myostatin and neurotransmission genes in elite sport performances

et al. 2015

View full text Add to dashboard Cite

Elite athletes are those who represent their sport at such major competition as the Olympic Games or World contests. The most outstanding athletes appear to emerge as a result of endogenous biologic characteristics interacting with exogenous influences of the environment, often described as a 'Nature and Nurture' struggle. In this work, we assessed the contribution given by 4 genes involved in muscles development (MSTN) and behavioural insights (5HTT, DAT and MAOA) to athletic performances. As for neurotransmission, 5HTT, DAT and MAOA genes have been considered as directly involved in the management of aggressiveness and anxiety. Genotypes and allelic frequencies of 5HTTLPR, MAOA-u VNTR, DAT VNTR and MSTN K153R were determined in 50 elite athletes and compared with 100 control athletes. In this work we found a significant correlation between the dopamine transporter genotype 9/9 and allele 9 and elite sport performances. On the contrary, no association was found between muscle development regulation or serotonin pathway and elite performances. Our data, for the first time, suggest a strong role of dopamine neurotransmitter in determining sport success, highlighting the role of emotional control and psycological management to reach high-level performances.

show abstract

Population studies of polymorphisms of the serotonin transporter protein gene

Cited by 212 publications

References 28 publications

High‐throughput genotyping of repeat polymorphism in the regulatory region of serotonin transporter gene by gel microchip electrophoresis

High‐throughput genotyping of repeat polymorphism in the regulatory region of serotonin transporter gene by gel microchip electrophoresis

The Association of Serotonin Transporter Genetic Polymorphisms and Irritable Bowel Syndrome and Its Influence on Tegaserod Treatment in Chinese Patients

The potential role of myostatin and neurotransmission genes in elite sport performances

Contact Info

Product

Resources

About