Genetic Variation in a DNA Double Strand Break Repair Gene in Saudi Population: A Comparative Study with Worldwide Ethnic Groups

Abstract

DNA repair capacity is crucial in maintaining cellular functions and homeostasis. However, it can be alteredbased on DNA sequence variations in DNA repair genes and this may lead to the development of many diseasesincluding malignancies. Identification of genetic polymorphisms responsible for reduced DNA repair capacity isnecessary for better prevention. Homologous recombination (HR), a major double strand break repair pathway,plays a critical role in maintaining the genome stability. The present study was performed to determine thefrequency of the HR gene XRCC3 Exon 7 (C18067T, rs861539) polymorphisms in Saudi Arabian population incomparison with epidemiological studies by “MEDLINE” search to equate with global populations. The variantallelic (T) frequency of XRCC3 (C>T) was found to be 39%. Our results suggest that frequency of XRCC3 (C>T)DNA repair gene exhibits distinctive patterns compared with the Saudi Arabian population and this mightbe attributed to ethnic variation. The present findings may help in high-risk screening of humans exposed toenvironmental carcinogens and cancer predisposition in different ethnic groups.