A 40-bp VNTR polymorphism in the 3 '-untranslated region of
DAT1/SLC6A3 is associated with ADHD but not with alcoholism

J 2015

A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism

ŠERÝ, Omar, Ivo PACLT, Ivana DRTÍLKOVÁ, Pavel THEINER, Marta KOPECKOVA et. al.

Basic information

Original name

A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism

Name in Czech

40-bp VNTR polymorfismus ve 3 ' nepřekládané oblasti genu pro DAT1 / SLC6A3 je asociován s ADHD nikoliv s alkoholismem

Authors

ŠERÝ, Omar (203 Czech Republic, guarantor, belonging to the institution), Ivo PACLT (203 Czech Republic), Ivana DRTÍLKOVÁ (203 Czech Republic, belonging to the institution), Pavel THEINER (203 Czech Republic, belonging to the institution), Marta KOPECKOVA (203 Czech Republic), Petr ZVOLSKÝ (203 Czech Republic) and Vladimír BALCAR (36 Australia)

Edition

Behavioral and Brain Functions, London, BIOMED CENTRAL LTD, 2015, 1744-9081

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30000 3. Medical and Health Sciences

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.720

RIV identification code

RIV/00216224:14310/15:00087478

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1186/s12993-015-0066-8

UT WoS

000356474900001

Keywords in English

Hyperkinetic disorder; Polymorphism; Alcoholism; Dopamine transporter; miRNA

Abstract

ORIG CZ

V originále

Background: ADHD and alcoholism are psychiatric diseases with pathophysiology related to dopamine system. DAT1 belongs to the SLC6 family of transporters and is involved in the regulation of extracellular dopamine levels. A 40 bp variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region of DAT1/SLC6A3 gene was previously reported to be associated with various phenotypes involving disturbed regulation of dopaminergic neurotransmission. Methods: A total of 1312 subjects were included and genotyped for 40 bp VNTR polymorphism of DAT1/SLC6A3 gene in this study (441 alcoholics, 400 non-alcoholic controls, 218 ADHD children and 253 non ADHD children). Using miRBase software, we have performed a computer analysis of VNTR part of DAT1 gene for presence of miRNA binding sites. Results: We have found significant relationships between ADHD and the 40 bp VNTR polymorphisms of DAT1/SLC6A3 gene (P < 0.01). The 9/9 genotype appeared to reduce the risk of ADHD about 0.4-fold (p < 0.04). We also noted an occurrence of rare genotypes in ADHD (frequency different from controls at p < 0.01). No association between alcoholism and genotype frequencies of 40 bp VNTR polymorphism of DAT1/SLC6A3 gene has been detected. Conclusions: We have found an association between 40 bp VNTR polymorphism of DAT1/SLC6A3 gene and ADHD in the Czech population; in a broad agreement with studies in other population samples. Furthermore, we detected rare genotypes 8/10, 7/10 and 10/11 present in ADHD boys only and identified miRNAs that should be looked at as potential novel targets in the research on ADHD.

In Czech

Zjistili jsme souvislost mezi 40 bp VNTR polymorfismem genu pro DAT1 / SLC6A3 a ADHD v české populaci.. Dále jsme zjistili vzácné genotypy 8/10, 7/10 a 10/11 pouze u chlapců s ADHD.

Links

NR8137, research and development project

Name: Molekulární příčiny dispozic ke vzniku alkoholizmu.

Investor: Ministry of Health of the CR

NR9298, research and development project

Name: Rizikové faktory u perzistentní formy hyperkinetické poruchy(ADHD).Longitudinální,klinická a molekulárně-genetická studie.

Investor: Ministry of Health of the CR

Citovat

ŠERÝ, Omar, Ivo PACLT, Ivana DRTÍLKOVÁ, Pavel THEINER, Marta KOPECKOVA, Petr ZVOLSKÝ and Vladimír BALCAR. A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism. Behavioral and Brain Functions. London: BIOMED CENTRAL LTD, 2015, vol. 11, JUNE, p. "nestrankovano", 8 pp. ISSN 1744-9081. Available from: https://dx.doi.org/10.1186/s12993-015-0066-8.

@article{1332569,
   author = {Šerý, Omar and Paclt, Ivo and Drtílková, Ivana and Theiner, Pavel and Kopeckova, Marta and Zvolský, Petr and Balcar, Vladimír},
   article_location = {London},
   article_number = {JUNE},
   doi = {http://dx.doi.org/10.1186/s12993-015-0066-8},
   keywords = {Hyperkinetic disorder; Polymorphism; Alcoholism; Dopamine transporter; miRNA},
   language = {eng},
   issn = {1744-9081},
   journal = {Behavioral and Brain Functions},
   title = {A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism},
   volume = {11},
   year = {2015}
}

TY  - JOUR
ID  - 1332569
AU  - Šerý, Omar - Paclt, Ivo - Drtílková, Ivana - Theiner, Pavel - Kopeckova, Marta - Zvolský, Petr - Balcar, Vladimír
PY  - 2015
TI  - A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism
JF  - Behavioral and Brain Functions
VL  - 11
IS  - JUNE
SP  - "nestrankovano"
EP  - "nestrankovano"
PB  - BIOMED CENTRAL LTD
SN  - 17449081
KW  - Hyperkinetic disorder
KW  - Polymorphism
KW  - Alcoholism
KW  - Dopamine transporter
KW  - miRNA
N2  - Background: ADHD and alcoholism are psychiatric diseases with pathophysiology related to dopamine system. DAT1 belongs to the SLC6 family of transporters and is involved in the regulation of extracellular dopamine levels. A 40 bp variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region of DAT1/SLC6A3 gene was previously reported to be associated with various phenotypes involving disturbed regulation of dopaminergic neurotransmission. Methods: A total of 1312 subjects were included and genotyped for 40 bp VNTR polymorphism of DAT1/SLC6A3 gene in this study (441 alcoholics, 400 non-alcoholic controls, 218 ADHD children and 253 non ADHD children). Using miRBase software, we have performed a computer analysis of VNTR part of DAT1 gene for presence of miRNA binding sites. Results: We have found significant relationships between ADHD and the 40 bp VNTR polymorphisms of DAT1/SLC6A3 gene (P < 0.01). The 9/9 genotype appeared to reduce the risk of ADHD about 0.4-fold (p < 0.04). We also noted an occurrence of rare genotypes in ADHD (frequency different from controls at p < 0.01). No association between alcoholism and genotype frequencies of 40 bp VNTR polymorphism of DAT1/SLC6A3 gene has been detected. Conclusions: We have found an association between 40 bp VNTR polymorphism of DAT1/SLC6A3 gene and ADHD in the Czech population; in a broad agreement with studies in other population samples. Furthermore, we detected rare genotypes 8/10, 7/10 and 10/11 present in ADHD boys only and identified miRNAs that should be looked at as potential novel targets in the research on ADHD.
ER  -

ŠERÝ, Omar, Ivo PACLT, Ivana DRTÍLKOVÁ, Pavel THEINER, Marta KOPECKOVA, Petr ZVOLSKÝ and Vladimír BALCAR. A 40-bp VNTR polymorphism in the 3 '-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism. \textit{Behavioral and Brain Functions}. London: BIOMED CENTRAL LTD, 2015, vol.~11, JUNE, p.~''nestrankovano'', 8 pp. ISSN~1744-9081. Available from: https://dx.doi.org/10.1186/s12993-015-0066-8.

Detailed Information on Publication Record