Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization

Investigation of Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization

The genetic factors associated with Molar-Incisor Hypomineralization (MIH), a dental condition affecting permanent molars in individuals aged 8-13. Buccal swab samples collected from 90 MIH-affected participants and 90 systemically healthy controls. The goal is to identify potential genetic markers contributing to the etiology of MIH, shedding light on previously unexplored aspects of genetic susceptibility.

Study Overview

• Status: Not yet recruiting
• Conditions: Molar-Incisor Hypomineralization
• Intervention / Treatment: Diagnostic test: DNA Sample Collection + DNA genotyping

Detailed Description

The aim of study is to elucidate the unknown aspects of genetic predisposition that may be effective in the etiology of Molar-Incisor Hypomineralization (MIH), that is, to identify unexplored genes that may be associated with MIH. The buccal swab method will be used for the purpose of collecting DNA samples.Samples will be collected from the inner cheek using a swab. The collected samples will be placed in single-use sterile Eppendorf tubes containing Phosphate Buffered Saline (PBS) solution. The samples will be stored at +4 degrees Celsius in a refrigerator, and DNA isolations will be performed within a few days. .

• Study Type: Observational
• Enrollment (Estimated): 120
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Betül Sen Yavuz, DDS; Phone Number: +905399887646; Email: dt.betulsen@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

The Study Arm: healthy individuals aged 8-13 with Molar-Incisor Hypomineralization (MIH) in at least one permanent molar.

The Control Arm: healthy individuals aged 8-13 without Molar-Incisor Hypomineralization (MIH).

Description

Inclusion Criteria:

• Patients aged between 8 and 13 years
• Patients whose parents consent to participate in the study
• Patients who provide cooperation for treatment and study
• For the study group: patients with at least one molar tooth showing molar-incisor hypomineralization
• For the control group: patients without molar-incisor hypomineralization
• Patients without a genetic disease in themselves or their family

Exclusion Criteria:

• Patients with a genetic disease in themselves or their family

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
MIH-affected participants (study group ); The Study Arm comprises individuals aged 8-13 with Molar-Incisor Hypomineralization (MIH) in at least one permanent molar.	Diagnostic test: DNA Sample Collection + DNA genotyping; Volunteers' oral epithelial cell DNA will be collected using DNA swabs, followed by DNA isolation with the PureLink DNA Isolation Kit. The isolated DNA's quality will be assessed using the Invitrogen QUBIT 4 Fluorometer, and the samples will be stored at -20°C until analysis of specific genetic regions.
Systemically healthy controls (control group ); Systemically healthy individuals without MIH.	Diagnostic test: DNA Sample Collection + DNA genotyping; Volunteers' oral epithelial cell DNA will be collected using DNA swabs, followed by DNA isolation with the PureLink DNA Isolation Kit. The isolated DNA's quality will be assessed using the Invitrogen QUBIT 4 Fluorometer, and the samples will be stored at -20°C until analysis of specific genetic regions.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
genotyping of polymorphisms	The genotyping of polymorphisms will be conducted using the StepOnePlus instrument (Thermo Fisher Scientific, Inc.) through Real-Time PCR, following the manufacturers' protocols (cat. no. 4371355, Thermo Fisher Scientific, Inc.) and utilizing Taqman SNP genotyping kits. The reaction volume will be 10 µl in total, comprising 5 µl of Genotyping Master Mix (Applied Biosystems, Foster City, CA), 3.5 µl of nuclease-free H2O (Thermofisher, USA), 0.5 µl of genotyping assay (Applied Biosystems), and 1 µl of DNA.	1.5 -2 year

Collaborators and Investigators

• Sponsor: Marmara University

Study record dates

Study Major Dates

• Study Start (Estimated): December 1, 2023
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): May 1, 2025

Study Registration Dates

• First Submitted: December 1, 2023
• First Submitted That Met QC Criteria: December 1, 2023
• First Posted (Actual): December 11, 2023

Study Record Updates

• Last Update Posted (Estimated): December 18, 2023
• Last Update Submitted That Met QC Criteria: December 12, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Congenital Abnormalities; Stomatognathic Diseases; Tooth Diseases; Stomatognathic System Abnormalities; Tooth Abnormalities; Dental Enamel Hypomineralization; Developmental Defects of Enamel; Dental Enamel Hypoplasia; Molar Hypomineralization
• Other Study ID Numbers: MarmaraPedo2

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No