Literature DB >> 32944598

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH).

Luka Hočevar1, Jernej Kovač2, Katarina Trebušak Podkrajšek2,3, Saba Battelino4,5, Alenka Pavlič1,6.   

Abstract

All children, who were born in 2004 and had undergone surgical treatment for recurrent acute tonsillitis and/or acute otitis media at the ear, nose and throat clinic (ENT) between 2004 and 2010, were called on dental examination and blood sampling. Out of 441 invitees, 113 children and their parents/legal guardians agreed to participate. The following data from this group of subjects are presented: the presence of clinical signs of molar-incisor hypomineralisation (MIH), the distribution of human leukocyte antigen (HLA) alleles DQ2 and DQ8 and eight single nucleotide polymorphisms (SNPs) located in amelogenesis-related genes (rs3796704 in the ENAM gene, rs546778141 in the AMBN gene, rs2106416 in the AMELX gene, rs7660807 and rs35286445 in the AMTN gene, rs4870723 in the COL14A1 gene, rs2245803 in the MMP20 gene, and rs3828054 in the TUFT1 gene). Data on clinical signs of MIH were collected in accordance with the recommendation and on the proposed MIH clinical data recording sheet [1], and with appropriate preliminary training and calibration. Data on HLA DQ2 and DQ8 haplotypes and on SNPs of amelogenesis-related genes were obtained using DNA isolated from blood samples taken from subjects. The HLA DQ2 and DQ8 alleles were determined using the EliGene® Coeliac RT Kits (90,048-RT; Elisabeth Pharmacon spol. s.r.o., Brno-Židenice, Czech Republic) on a 7500 Fast RT-PCR System (Applied Biosystems, Waltham, MA, USA). The distributions of SNPs in the amelogenesis-related genes were determined using high resolution melting (HRM) using the Type-IT HRM Master Mix (Qiagen), TaqMan genotyping assays (ID: C__25766207_10; Thermo Fisher Scientific, Waltham, MA, USA) with the TaqMan Universal Master Mix II, or Sanger sequencing using sequencing master mix BigDye® Terminator v3.1 (Applied Biosystems) and ABI 3500 Genetic Analyser (Applied Biosystems). L. Hočevar, J. Kovač, K. Trebušak Podkrajšek, S. Battelino, A. Pavlič, 2020. The possible influence of genetic aetiological factors on molar-incisor hypomineralisation, Arch. Oral. Biol. 118, 104848. https://doi.org/10.1016/j.archoralbio.2020.104848.
© 2020 The Author(s). Published by Elsevier Inc.

Entities:  

Keywords:  Aetiology; CADD, Combined annotation dependent depletion; ENT, ear, nose and throat clinic; FPM, First permanent molar; HLA, human leukocyte antigen; HRM, high resolution melting; Human leukocyte antigen; MIH, molar-incisor hypomineralisation; Molar-incisor hypomineralisation; PEB, Post-eruptive enamel breakdown; SNP, single nucleotide polymorphism; Single nucleotide polymorphism; The amelogenesis-related genes

Year:  2020        PMID: 32944598      PMCID: PMC7481823          DOI: 10.1016/j.dib.2020.106224

Source DB:  PubMed          Journal:  Data Brief        ISSN: 2352-3409


  9 in total

1.  STRING: a web-server to retrieve and display the repeatedly occurring neighbourhood of a gene.

Authors:  B Snel; G Lehmann; P Bork; M A Huynen
Journal:  Nucleic Acids Res       Date:  2000-09-15       Impact factor: 16.971

2.  Judgement criteria for molar incisor hypomineralisation (MIH) in epidemiologic studies: a summary of the European meeting on MIH held in Athens, 2003.

Authors:  K L Weerheijm; M Duggal; I Mejàre; L Papagiannoulis; G Koch; L C Martens; A-L Hallonsten
Journal:  Eur J Paediatr Dent       Date:  2003-09       Impact factor: 2.231

3.  ScreenClust: Advanced statistical software for supervised and unsupervised high resolution melting (HRM) analysis.

Authors:  Valin Reja; Alister Kwok; Glenn Stone; Linsong Yang; Andreas Missel; Christoph Menzel; Brant Bassam
Journal:  Methods       Date:  2010-02-08       Impact factor: 3.608

4.  Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.

Authors:  Fabiano Jeremias; Mine Koruyucu; Erika C Küchler; Merve Bayram; Elif B Tuna; Kathleen Deeley; Ricardo A Pierri; Juliana F Souza; Camila M B Fragelli; Marco A B Paschoal; Koray Gencay; Figen Seymen; Raquel M S Caminaga; Lourdes dos Santos-Pinto; Alexandre R Vieira
Journal:  Arch Oral Biol       Date:  2013-06-19       Impact factor: 2.633

5.  The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.

Authors:  Luka Hočevar; Jernej Kovač; Katarina Trebušak Podkrajšek; Saba Battelino; Alenka Pavlič
Journal:  Arch Oral Biol       Date:  2020-08-07       Impact factor: 2.633

6.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

7.  STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets.

Authors:  Damian Szklarczyk; Annika L Gable; David Lyon; Alexander Junge; Stefan Wyder; Jaime Huerta-Cepas; Milan Simonovic; Nadezhda T Doncheva; John H Morris; Peer Bork; Lars J Jensen; Christian von Mering
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

8.  A practical method for use in epidemiological studies on enamel hypomineralisation.

Authors:  A Ghanim; M Elfrink; K Weerheijm; R Mariño; D Manton
Journal:  Eur Arch Paediatr Dent       Date:  2015-04-28

9.  CADD: predicting the deleteriousness of variants throughout the human genome.

Authors:  Philipp Rentzsch; Daniela Witten; Gregory M Cooper; Jay Shendure; Martin Kircher
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.