Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population
| Autor: | Yee Wen Khew, Natalie J. Prescott, Dhiren Govender, Cathryn M. Lewis, Chantal Babb de Villiers, Elvira Singh, Ariella Amar, M. Iqbal Parker, Victoria Beynon, Wenlong C. Chen, Marco Matejcic, Christopher G. Mathew, Hannah Bye, Robyn Kerr |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Cancer Research Esophageal Neoplasms Genotype Population Black People Locus (genetics) Single-nucleotide polymorphism Genome-wide association study Biology Biology Genetics and Epigenetics Polymorphism Single Nucleotide 03 medical and health sciences South Africa 0302 clinical medicine Risk Factors Humans Genetic Predisposition to Disease education CHEK2 Genetic association Genetics education.field_of_study Smoking General Medicine Odds ratio Middle Aged Genetic architecture 3. Good health Checkpoint Kinase 2 030104 developmental biology 030220 oncology & carcinogenesis Case-Control Studies Female Esophageal Squamous Cell Carcinoma Genome-Wide Association Study |
| Zdroj: | Carcinogenesis Chen, W C, Bye, H, Matejcic, M, Amar, A, Govender, D, Khew, Y W, Beynon, V, Kerr, R, Singh, E, Prescott, N J, Lewis, C M, Babb de Villiers, C, Parker, M I & Mathew, C G 2019, ' Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population ', Carcinogenesis, vol. 40, no. 4, bgz026, pp. 513-520 . https://doi.org/10.1093/carcin/bgz026 |
| ISSN: | 1460-2180 |
| Popis: | Oesophageal squamous cell carcinoma (OSCC) has a high incidence in southern Africa and a poor prognosis. Limited information is available on the contribution of genetic variants in susceptibility to OSCC in this region. However, recent genome-wide association studies have identified multiple susceptibility loci in Asian and European populations. In this study, we investigated genetic variants from seven OSCC risk loci identified in non-African populations for association with OSCC in the South African Black population. We performed association studies in a total of 1471 cases and 1791 controls from two study sample groups, which included 591 cases and 852 controls from the Western Cape and 880 cases and 939 controls from the Johannesburg region in the Gauteng province. Thereafter, we performed a meta-analysis for 11 variants which had been genotyped in both studies. A single nucleotide polymorphism in the CHEK2 gene, rs1033667, was significantly associated with OSCC [P = 0.002; odds ratio (OR) = 1.176; 95% confidence interval (CI): 1.06–1.30]. However, single nucleotide polymorphisms in the CASP8/ALS2CR12, TMEM173, PLCE1, ALDH2, ATP1B2/TP53 and RUNX1 loci were not associated with the disease (P > 0.05). The lack of association of six of these loci with OSCC in South African populations may reflect different genetic risk factors in non-African and African populations or differences in the genetic architecture of African genomes. The association at CHEK2, a gene with key roles in cell cycle regulation and DNA repair, in an African population provides further support for the contribution of common genetic variants at this locus to the risk of oesophageal cancer. Single nucleotide polymorphisms (SNPs) associated with oesophageal squamous cell carcinoma (OSCC) in Asian populations were genotyped in OSCC cases and controls from the South African Black population. A SNP in CHEK2 was associated with an increased risk of OSCC. |
| Databáze: | OpenAIRE |
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