Open AccessPolymorphisms of CYP1A1 Genes and Its Correlation with Clinical Variant of Pterygium
Author(s) -
Hendriati,
Havriza Vitresia
Publication year - 2020
Publication title -
borneo epidemiology journal
Language(s) - English
Resource type - Journals
eISSN - 2716-7070
pISSN - 2735-0266
DOI - 10.51200/bej.v1i2.2754
Subject(s) - heterozygote advantage , genotyping , genotype , mutant , pterygium , snp , wild type , biology , single nucleotide polymorphism , gene , allele , gene polymorphism , polymerase chain reaction , microbiology and biotechnology , snp genotyping , genetics , biochemistry
Background and Objective: CYP1A1 gene, which has role in carcinogenic metabolisms, is also detected in pterygium tissue. The aim of the study is to determine the polymorphisms of CYP1A1 m2 (rs1048943) and m4 (rs1799814) gene and its correlation with clinical variant of the pterygium.
Methods: DNA isolation was performed from blood sample of 80 pterygium patients consisting of 40 inflammatory and 40 non-inflammatory pterygium. Genotyping of rs1048943 SNP AG (m2) in the CYP1A1 gene was performed using Alel Specific Polymerase Chain reaction (AS-PCR) and rs1048943) SNP Genotyping was performed using PCR. Polymorphism results are characterized as wild type (AA), mutant homozygote (GG), and mutant heterozygote (AG).
Results: CYP1A1 m2 and m4 gene polymorphism consist of wild type (AA), mutant homozygote (GG), and mutant heterozygote (AG). Both CYP1A1 m2 and m4 genes polymorphism of both groups of inflammatory and non-inflammatory pterygium was mostly consist of wild type polymorphism, followed by the mutant heterozygote polymorphism. The wild type polymorphism was found to be higher in inflammatory pterygium, meanwhile the mutant heterozygote was found to be higher in non-inflammatory pterygium.
Conclusion: There were differences in CYP1A1 m2 and m4 gene polymorphism in both pterygium group, but none has been shown to be statistically associated with the clinical variant of the pterygium.