Genetical evaluation of the molar-incisor hypomienralization

• Grant number: 11/13636-5
• Support Opportunities: Regular Research Grants
• Duration: November 01, 2011 - December 31, 2013
• Field of knowledge: Health Sciences - Dentistry - Pediatric Dentistry
• Principal Investigator: Lourdes Aparecida Martins dos Santos-Pinto
• Grantee: Lourdes Aparecida Martins dos Santos-Pinto
• Host Institution: Faculdade de Odontologia (FOAr). Universidade Estadual Paulista (UNESP). Campus de Araraquara. Araraquara , SP, Brazil
• Associated researchers: Angela Cristina Cilense Zuanon ; Cláudia Vianna Maurer Morelli ; Manuel Restrepo Restrepo ; Raquel Mantuaneli Scarel Caminaga ; Rita de Cássia Loiola Cordeiro ; Rodrigo Secolin

Abstract

This study, divided into 2 parts, will investigate the molecular genetics of the Molar-Incisor Hypomineralization pacients. The first part of the study will be evaluatedpossible polymorphisms in candidate genes related to the maturation phase ofamelogenesis (AMELX, AMBN, AMTN, ENAM, MMP20, KLK4, TUFT1, FAM83H,DLX3, DSPP, BMP2, BMP4, BMP7). Oral mucosa cells will be collected from 142probands and their relatives for DNA extraction and genotyping of 64 SNPs (SingleNucleotide Polimorphisms) of candidate genes. Polymorphisms will be investigated byRT-PCR using genotyping system TaqMan® OpenArray" (Applied Biossystems). Thedata from genotyping and SNPs allele frequencies calculation will be performed byJINGLEFIX programs. Mendelian inconsistencies will be evaluated by the softwarePEDCHECK. The Hardy-Weinberg equilibrium (HWE) and the degree of linkagedisequilibrium between the SNPs will be evaluated by the program HAPLOVIEW. Thegenetic association based on families will be performed using transmission method ofLinkage Disequilibrium by UNPHASED program, The results will be corrected formultiple statistical tests using the Bonferroni correction. The second part of the studywill assess the penetration pattern of the MIH, by means of phenotypic data obtainedfrom the same sample. The segregation analysis will be performed using SEGREGsoftware from the SAGE program package. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

FABIANO JEREMIAS; DIEGO GIROTTO BUSSANELI; MANUEL RESTREPO; RICARDO AUGUSTO GONÇALVES PIERRI; JULIANA FELTRIN DE SOUZA; CAMILA MARIA BULLIO FRAGELLI; RODRIGO SECOLIN; CLAUDIA VIANNA MAURER-MORELLI; RITA DE CASSIA LOIOLA CORDEIRO; RAQUEL MANTUANELI SCAREL-CAMINAGA; et al. Inheritance pattern of molar-incisor hypomineralization. Brazilian Oral Research, v. 35, 2021-03-22. (11/13636-5, 10/18436-1)

JEREMIAS, FABIANO; PIERRI, RICARDO A. G.; SOUZA, JULIANA F.; FRAGELLI, CAMILA MARIA B.; RESTREPO, MANUEL; FINOTI, LIVIA S.; BUSSANELI, DIEGO G.; CORDEIRO, RITA C. L.; SECOLIN, RODRIGO; MAURER-MORELLI, CLAUDIA V.; et al. Family-Based Genetic Association for Molar-Incisor Hypomineralization. Caries Research, v. 50, n. 3, p. 310-318, 2016. (11/13636-5)

JEREMIAS, FABIANO; KORUYUCU, MINE; KUECHLER, ERIKA C.; BAYRAM, MERUE; TUNA, ELIF B.; DEELEY, KATHLEEN; PIERRI, RICARDO A.; SOUZA, JULIANA F.; FRAGELLI, CAMILA M. B.; PASCHOAL, MARCO A. B.; et al. Genes expressed in dental enamel development are associated with molar-incisor hypomineralization. ARCHIVES OF ORAL BIOLOGY, v. 58, n. 10, p. 1434-1442, OCT 2013. (11/13636-5)