A review of 5-HT transporter linked promoter region (5-HTTLPR) polymorphism and associations with alcohol use problems and sexual risk behaviors

Rubens, Muni; Ramamoorthy, Venkataraghavan; Attonito, Jennifer; Appunni, Sandeep; Shehadeh, Nancy; Dévieux, Jessy G.

doi:10.1007/s12687-015-0253-1

Cited by 11 publications

(9 citation statements)

References 81 publications

(75 reference statements)

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“…By contrast, the mainstream pathway requires ~1,000 genetics appointments (for individuals with mutations), a ~13-fold reduction, and providing a reduction in costs of ~£2.6 M per year 20 . Further cost savings would be generated in genetics as the proportion of unaffected individuals with an identified mutation in the family would increase; testing for a known mutation is 3–5× cheaper than undertaking the full gene analysis required if the family status is unknown 20 . The mainstream pathway also offers a ~4-fold reduction in time to the result because the average waiting time for a genetics appointment in UK is 12–15 weeks 20 ( Fig.…”

Section: Resultsmentioning

confidence: 99%

“…To estimate the cost of the new pathway compared to the traditional pathway we used the pathway data and costs from Slade et al . 20 . In the typical traditional pathway patients have a first appointment in genetics @£332.29 prior to testing and then a follow-up appointment to receive the test result @£127.38.…”

Section: Methodsmentioning

confidence: 99%

“…Testing access processes need to be tailored accordingly. However, most centres use the same processes to access gene testing for individuals with and without cancer 18 20 .…”

mentioning

confidence: 99%

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Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

George

Riddell

Seal

et al. 2016

Sci Rep

184

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Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways to access testing. Approximately 15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation which has substantial implications for their personal management and that of their relatives. Unfortunately, in most countries, routine implementation of BRCA testing for ovarian cancer patients has been inconsistent and largely unsuccessful. We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken by the trained cancer team with cascade testing to relatives performed by the genetics team. 207 women with ovarian cancer were offered testing through the mainstream pathway. All accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease. Patient and clinician feedback was very positive. The pathway offers a 4-fold reduction in time and 13-fold reduction in resource requirement compared to the conventional testing pathway. The mainstream genetic testing pathway we present is effective, efficient and patient-centred. It can deliver rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an exemplar for other genes and other diseases.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

George

Riddell

Seal

et al. 2016

Sci Rep

184

280

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“…Carrying the s allele has been associated not only with alcohol dependence (Rubens et al 2016 ; Feinn et al 2005 ), but also with stress reactivity, impulsivity, anxiety and mood disorders (Reif and Lesch 2003 ; Walderhaug et al 2007 ; Calati et al 2011 ; Munafò et al 2008 ). The findings of the studies included in the present review cannot support any conclusion regarding the association between 5-HTTLPR and personality traits in relation to alcohol dependence (Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Personality as an intermediate phenotype for genetic dissection of alcohol use disorder

et al. 2017

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Genetic and environmental interactive influences on predisposition to develop alcohol use disorder (AUD) account for the high heterogeneity among AUD patients and make research on the risk and resiliency factors complicated. Several attempts have been made to identify the genetic basis of AUD; however, only few genetic polymorphisms have consistently been associated with AUD. Intermediate phenotypes are expected to be in-between proxies of basic neuronal biological processes and nosological symptoms of AUD. Personality is likely to be a top candidate intermediate phenotype for the dissection of the genetic underpinnings of different subtypes of AUD. To date, 38 studies have investigated personality traits, commonly assessed by the Cloninger’s Tridimensional Personality Questionnaire (TPQ) or Temperament and Character Inventory (TCI), in relation to polymorphisms of candidate genes of neurotransmitter systems in alcohol-dependent patients. Particular attention has been given to the functional polymorphism of the serotonin transporter gene (5-HTTLPR), however, leading to contradictory results, whereas results with polymorphisms in other candidate monoaminergic genes (e.g., tryptophan hydroxylase, serotonin receptors, monoamine oxidases, dopamine receptors and transporter) are sparse. Only one genome-wide association study has been performed so far and identified the ABLIM1 gene of relevance for novelty seeking, harm avoidance and reward dependence in alcohol-dependent patients. Studies investigating genetic factors together with personality could help to define more homogenous subgroups of AUD patients and facilitate treatment strategies. This review also urges the scientific community to combine genetic data with psychobiological and environmental data to further dissect the link between personality and AUD.

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“…23, 48–50 This includes growing evidence of genetic variations in 5-HT systems implicated in addictive phenomena, as well as various behavioral/affective conditions closely associated with using—and abstaining from—addictive substances. 51 …”

Section: Discussionmentioning

confidence: 99%

Moderators of response to sertraline versus placebo among recently abstinent, cocaine dependent patients: A retrospective analysis of two clinical trials

et al. 2017

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Background and Objectives Moderators of treatment response to serotonin reuptake inhibitor sertraline (SRT) for cocaine dependence were assessed in two randomized, double blind, placebo-controlled clinical trials. Methods Generalized estimating equation modeling was performed on data from cocaine-dependent volunteers randomized to receive SRT or placebo (N=126) who completed ≥ 2-week drug-free residential portions of the 12-week trials, in which subsequent outpatient treatment (weeks 3–12) included weekly cognitive behavioral therapy and thrice-weekly supervised urine toxicology. Primary outcome measure: relapse (2 consecutive cocaine-positive or missing urines) following residential stay. Potential moderators included treatment, sex, age, race, depression measures, baseline cocaine urine result, and alcohol dependence diagnosis (ADDx). Results Odds ratios (OR) for relapse showed placebo-treated participants were significantly more likely to relapse than SRT participants. Regardless of treatment condition, participants more likely to relapse were male, and those with lower Hamilton depression ratings, or baseline cocaine-negative urines. Older subjects or those with current ADDx had higher relapse risk than those without ADDx; however, treating older or ADDx participants with SRT reduced cocaine relapse more than placebo. Discussion and Conclusions Women or those with more severe cocaine use or depressive symptoms may have fewer cocaine relapses regardless of medication treatment. SRT at 200 mg reduced cocaine relapse more than placebo, especially in older participants or in those with comorbid ADDx. Scientific Significance SRT may be efficacious to support relapse prevention among cocaine-dependent patients in the context of brief residential followed by outpatient treatment, especially in older participants or those with comorbid alcohol/cocaine dependence.

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A review of 5-HT transporter linked promoter region (5-HTTLPR) polymorphism and associations with alcohol use problems and sexual risk behaviors

Cited by 11 publications

References 81 publications

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Personality as an intermediate phenotype for genetic dissection of alcohol use disorder

Moderators of response to sertraline versus placebo among recently abstinent, cocaine dependent patients: A retrospective analysis of two clinical trials

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