title: Allele and genotype distributions of DNA repair gene polymorphisms in South Indian healthy population.
abstract: Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy population and compare with HapMap populations. Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established. The minor allele frequency of Xeroderma pigmentosum group A (XPA) G23A, Excision repair cross-complementing 2 (ERCC2)/Xeroderma pigmentosum group D (XPD) Lys751Gln, Xeroderma pigmentosum group G (XPG) His46His, XPG Asp1104His, and X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphisms were 49.2%, 36.3%, 48.0%, 23.0%, and 34.0% respectively. Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations. The present work forms the groundwork for cancer association studies and biomarker identification for treatment response and prognosis.
authors.affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Katiboina Srinivasa
authors.initials: KS
authors.lastname: Rao
authors.affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Abialbon
authors.initials: A
authors.lastname: Paul
authors.affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Annan Sudarsan Arun
authors.initials: AS
authors.lastname: Kumar
authors.affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Gurusamy
authors.initials: G
authors.lastname: Umamaheswaran
authors.affiliation: Department of Medical Oncology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Biswajit
authors.initials: B
authors.lastname: Dubashi
authors.affiliation: Department of Radiotherapy, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Karunanithi
authors.initials: K
authors.lastname: Gunaseelan
authors.affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
authors.forename: Steven Aibor
authors.initials: SA
authors.lastname: Dkhar
keywords: DNA repair; XPA; XPD; XPG; XRCC1