Distribution and Haplotype Associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln Polymorphisms with Nasopharyngeal Carcinoma in the Malaysian Population

Visuvanathan, Shaneeta; Chong, Pei-Pei; Yap, Yoke-Yeow; Lim, Chin-Chye; Tan, Meng-Kuan; Lye, Munn-Sann

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저자정보: Visuvanathan, Shaneeta (Department of Community Health, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia) Chong, Pei-Pei (Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia) Yap, Yoke-Yeow (Department of Surgery, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia) Lim, Chin-Chye (Department of Radiotherapy and Oncology, Hospital Kuala Lumpur) Tan, Meng-Kuan (Tung Shin Hospital) Lye, Munn-Sann (Department of Community Health, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제15권 제6호

발행연도: 2014.1

수록면: 2,747 - 2,751 (5page)

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Background: DNA repair pathways play a crucial role in maintaining the human genome. Previous studies associated DNA repair gene polymorphisms (XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln) with nasopharyngeal carcinoma. These non-synonymous polymorphisms may alter DNA repair capacity and thus increase or decrease susceptibility. The present study aimed to determine the genotype distribution of XPD codon 751, XRCC1 codon 280 and codon 399 polymorphisms and haplotype associations among NPC cases and controls in the Malaysian population. Materials and Methods: We selected 157 NPC cases and 136 controls from two hospitals in Kuala Lumpur, Malaysia for this study. The polymorphisms studied were genotyped by PCR-RFLP assay and allele and genotype frequenci es, haplotype and linkage disequilibrium were determined using SNPstat software. Results: For the XPD Lys751Gln polymorphism, the frequency of the Lys allele was higher in cases than in controls (94.5% versus 85.0%). For the XRCC1 Arg280His polymorphism, the frequency of Arg allele was 90.0% and 89.0% in cases and controls, respectively and for XRCC1 Arg399Gln the frequency of the Arg allele was 72.0% and 72.8% in cases and controls respectively. All three polymorphisms were in linkage disequilibrium. The odds ratio from haplotype analysis for these three polymorphisms and their association with NPC was 1.93 (95%CI: 0.90-4.16) for haplotype CGC vs AGC allele combinations. The global haplotypte association with NPC gave a p-value of 0.054. Conclusions: Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer.

#Single nucleotide polymorphism #haplotype #linkage disequilibrium #DNA repair genes #Malaysia

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Visuvanathan, Shaneeta

소속기관 Department of Community Health, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia