Novel PAX9 gene polymorphisms and mutations and susceptibility
to tooth agenesis in the Czech population

J 2015

Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population

HLOUŠKOVÁ, Alena, Ondřej BONCZEK, Lydie IZAKOVIČOVÁ HOLLÁ, Jan LOCHMAN, Jana ŠOUKALOVÁ et. al.

Basic information

Original name

Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population

Authors

HLOUŠKOVÁ, Alena (203 Czech Republic, belonging to the institution), Ondřej BONCZEK (203 Czech Republic, belonging to the institution), Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic, belonging to the institution), Jan LOCHMAN (203 Czech Republic, belonging to the institution), Jana ŠOUKALOVÁ (203 Czech Republic, belonging to the institution), Jan ŠTEMBÍREK (203 Czech Republic), Ivan MÍŠEK (203 Czech Republic), Pavlína ČERNOCHOVÁ (203 Czech Republic, belonging to the institution), Přemysl KREJČÍ (203 Czech Republic), Jiří VANĚK (203 Czech Republic, belonging to the institution) and Omar ŠERÝ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Neuroendocrinology Letters, Stockholm, MAGHIRA & MAAS PUBLICATIONS, 2015, 0172-780X

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

Sweden

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 0.946

RIV identification code

RIV/00216224:14310/15:00087473

Organization unit

Faculty of Science

UT WoS

000368824900011

Keywords in English

Odontogenesis; tooth agenesis; PAX9 gene; sequencing; polymorphism; mutation; oligodontia; hypodontia

Abstract

V originále

Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI). We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study. In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.

Links

NT11420, research and development project

Name: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací

Citovat

HLOUŠKOVÁ, Alena, Ondřej BONCZEK, Lydie IZAKOVIČOVÁ HOLLÁ, Jan LOCHMAN, Jana ŠOUKALOVÁ, Jan ŠTEMBÍREK, Ivan MÍŠEK, Pavlína ČERNOCHOVÁ, Přemysl KREJČÍ, Jiří VANĚK and Omar ŠERÝ. Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population. Neuroendocrinology Letters. Stockholm: MAGHIRA & MAAS PUBLICATIONS, 2015, vol. 36, No 5, p. 452-457. ISSN 0172-780X.

@article{1331366,
   author = {Hloušková, Alena and Bonczek, Ondřej and Izakovičová Hollá, Lydie and Lochman, Jan and Šoukalová, Jana and Štembírek, Jan and Míšek, Ivan and Černochová, Pavlína and Krejčí, Přemysl and Vaněk, Jiří and Šerý, Omar},
   article_location = {Stockholm},
   article_number = {5},
   keywords = {Odontogenesis; tooth agenesis; PAX9 gene; sequencing; polymorphism; mutation; oligodontia; hypodontia},
   language = {eng},
   issn = {0172-780X},
   journal = {Neuroendocrinology Letters},
   title = {Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population},
   volume = {36},
   year = {2015}
}

TY  - JOUR
ID  - 1331366
AU  - Hloušková, Alena - Bonczek, Ondřej - Izakovičová Hollá, Lydie - Lochman, Jan - Šoukalová, Jana - Štembírek, Jan - Míšek, Ivan - Černochová, Pavlína - Krejčí, Přemysl - Vaněk, Jiří - Šerý, Omar
PY  - 2015
TI  - Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population
JF  - Neuroendocrinology Letters
VL  - 36
IS  - 5
SP  - 452-457
EP  - 452-457
PB  - MAGHIRA & MAAS PUBLICATIONS
SN  - 0172780X
KW  - Odontogenesis
KW  - tooth agenesis
KW  - PAX9 gene
KW  - sequencing
KW  - polymorphism
KW  - mutation
KW  - oligodontia
KW  - hypodontia
N2  - Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI). We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study. In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.
ER  -

HLOUŠKOVÁ, Alena, Ondřej BONCZEK, Lydie IZAKOVIČOVÁ HOLLÁ, Jan LOCHMAN, Jana ŠOUKALOVÁ, Jan ŠTEMBÍREK, Ivan MÍŠEK, Pavlína ČERNOCHOVÁ, Přemysl KREJČÍ, Jiří VANĚK and Omar ŠERÝ. Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population. \textit{Neuroendocrinology Letters}. Stockholm: MAGHIRA \&{} MAAS PUBLICATIONS, 2015, vol.~36, No~5, p.~452-457. ISSN~0172-780X.

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