Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization

NCT06165055 | Unknown

• 1 other identifier: MarmaraPedo2
• Study Type: observational
• Target: 120
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Molar-Incisor Hypomineralization

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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

Systemically healthy controls (control group )

Systemically healthy individuals without MIH.

Diagnostic Test: DNA Sample Collection + DNA genotyping

Interventions

DNA Sample Collection + DNA genotyping DIAGNOSTIC_TEST

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.

MIH-affected participants (study group ); Systemically healthy controls (control group )

Eligibility Criteria

• Age: 8 Years - 13 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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).

You may qualify if:

• 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

You may not qualify if:

• Patients with a genetic disease in themselves or their family

Sponsors & Collaborators

• Marmara University: lead

MeSH Terms

Conditions

Molar Hypomineralization

Condition Hierarchy (Ancestors)

Dental Enamel Hypomineralization; Developmental Defects of Enamel; Tooth Abnormalities; Stomatognathic System Abnormalities; Stomatognathic Diseases; Tooth Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Betul Sen Yavuz, DDS

CONTACT

+905399887646; dt.betulsen@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 1, 2023
• First Posted: December 11, 2023
• Study Start: December 1, 2023
• Primary Completion: December 1, 2024
• Study Completion: May 1, 2025
• Last Updated: December 18, 2023

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share