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The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer

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posted on 2022-11-11, 20:01 authored by Justyna Gil, David Ramsey, Agnieszka Stembalska, Pawel Karpinski, Karolina A Pesz, Izabela Laczmanska, Przemyslaw Leszczynski, Zygmunt Grzebieniak, Maria Malgorzata Sasiadek
Background: Epidemiological data show that colorectal cancer (CRC) is the second most frequent malignancy worldwide. The involvement of “minor impact genes” such as XME and DNA-repair genes in the etiology of sporadic cancer has been postulated by other authors. Aim: we focused on analyzing polymorphisms in DNA-repair genes in CRC. We considered the following genes involved in DNA-repair pathways: base excision repair (OGG1 Ser326Cys, XRCC1 Trp194Arg and Arg399Gln); nucleotide excision repair [XPA (- 4)G/A, XPC C/A (i11) and A33512C (Lys939Gln), XPD Asp312Asn and A18911C (Lys751Gln), XPF Arg415Gln, XPG Asp1104His, ERCC1 C118T]; homologous recombination repair [ NBS1 Glu185Gln, Rad51 135G/C, XRCC3 C18067 (Thr241Met)]. Material and methods: The study group consisted of 133 patients diagnosed with sporadic CRC, while the control group was composed of 100 age-matched non-cancer volunteers. Genotyping was performed by PCR and PCR-RFLP. Fisher’s exact test with a Bonferroni correction for multiple testing was used. Results: We found that: i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR is 2.07 (95% CI 1.1391,3.7782) p=0.038], ii) XPD A18911C (Lys751Gln) is associated with decreased risk of CRC [OR=0.4497, (95% CI 0.2215,0,9131) p=0.031] for an individual with at least one A allele at this locus. Conclusions: 1. the XPC C/A (i11) genotype is associated with an increased risk of sporadic colorectal cancer. 2. the NER pathway has been highlighted in our study, as a most important in modulation of individual susceptibility to sCRC.

History

Publication

Molecular Biology Reports;39(1), pp. 527-534

Publisher

Springer-Verlag

Note

peer-reviewed

Other Funding information

State Committee for Scientific Research, Polish Ministry for Scientific Research and Information Technology, SFI

Rights

The original publication is available at www.springerlink.com

Language

English

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  • BIO-SI - Bio-Statistics & Informatics Project

Department or School

  • Mathematics & Statistics

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