Molecular characterization of LEPR Q223R single nucleotide polymorphism (rs1137101) in different facial skeletal patterns

• Main Authors: Siva Dharma, Danusha, Abu Bakar, Noraini, Mokhtar@Makhtar, Khairani Idah
• Format: Article
• Language: English
• Published: International Association for Orthodontics 2024
• Subjects: RK Dentistry
• Online Access: http://irep.iium.edu.my/115141/6/115141_Molecular%20characterisation%20of%20LEPR%20Q223R%20single%20Nucleotide.pdf; http://irep.iium.edu.my/115141/

Background of the research: Studies on genetic associations have been used to link a person's genotype to a physical trait or disease. In this investigation, we will examine the association between genetic variants and phenotype for the development of the facial skeletal pattern using the Leptin Receptor gene (LEPR) Q223 Single Nucleotide polymorphism (SNP) and whether it is viable as a diagnostic tool for identifying a certain phenotype. There is a gap in the literature on this subject that we intend to address. Objective: The aim of this study was to determine the molecular characterization of the leptin receptor (LEPR) Q223R single nucleotide polymorphism (rs1137101) levels between different classes of facial skeletal pattern (Class I, II and III). Methods: A sample of 82 patients was selected from the International Islamic University Malaysia (IIUM) Specialist Orthodontic Clinic prior to orthodontic treatment. Subjects were categorized into Class I, Class II, and Class III facial skeletal patterns using Eastman and Wits analysis. Unstimulated saliva samples were collected for DNA extraction and amplification, followed by Polymerase Chain Reaction (PCR) analysis under ultraviolet (UV) light. Subsequently, the MspI restriction enzyme was used for Restriction Fragment Length Polymorphism (RFLP) analysis under UV light. Statistical analysis included the Chi-square (χ2) test for genotype and allele frequencies comparison among facial skeletal patterns. The Hardy-Weinberg Equilibrium (HWE) assessed genotype frequency distribution among the facial skeletal patterns. Results: There was no significant difference in genotype frequency between the Class I facial skeletal pattern in the control group and the Class II and Class III facial skeletal patterns (p=0.48, p=0.16, respectively). Additionally, there was no correlation between allele frequency in the control group (Class I facial skeletal pattern) and Class II and Class III facial skeletal patterns (p=0.82 and p=0.32, respectively). Conclusion: There was no significant association between the Q223R (rs1137101) SNP of the LEPR gene in different classes of facial skeletal pattern.