Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns

Relton, Caroline L; Daniel, C. Paul; Fisher, A; Chase, Diana; Burn, John; Tawn, E. Janet

doi:10.1016/s0027-5107(02)00030-1

Cited by 21 publications

(7 citation statements)

References 27 publications

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“…The overall microsatellite frequencies and distribution of repeat lengths in a healthy Belgian population were similar to those reported previously in studies of UK newborns and retired UK radiation workers (25,26) and in an Australian twin study for XRCC3 and XRCC5 (27).…”

Section: Discussionsupporting

confidence: 84%

Microsatellite Polymorphisms in DNA Repair GenesXRCC1, XRCC3andXRCC5in Patients with Gynecological Tumors: Association with Late Clinical Radiosensitivity and Cancer Incidence

Ruyck

Wilding²,

Eijkeren

et al. 2005

Radiation Research

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This study investigates the association of microsatellite polymorphisms in XRCC1, XRCC3 and XRCC5 with the development of late radiation-induced radiotherapy reactions and examines the correlation between these microsatellites and cancer incidence. Sixty-two women with cervical or endometrial cancer treated with radiotherapy were included in the study. According to the CTCAEv3.0 scale, 22 patients showed late adverse radiotherapy reactions (grade 2 or more). PCR on lymphocyte DNA followed by automated fragment analysis was performed to examine the number of tandem repeat units at each locus. No significant association was found between the repeat length at any of the microsatellites in XRCC1, XRCC3 or XRCC5 and the incidence of late radiotherapy complications. Since higher odds ratios (ORs) were found for the rare XRCC1 [AC] 11 and [AC] 21 repeats (OR ‫؍‬ 2.65, P ‫؍‬ 0.325 and OR ‫؍‬ 8.67, P ‫؍‬ 0.093, respectively), the possible involvement of these small and large repeats in clinical radiosensitivity cannot be completely ruled out. When specific numbers of repeats were examined, no significant correlation was found between the microsatellite repeat length in XRCC1 and XRCC5 and cancer incidence. A weak correlation between XRCC3 [AC] 16 homozygotes and cancer incidence was found (OR ‫؍‬ 2.56, P ‫؍‬ 0.055). A large-scale multicenter study of cancer patients with a high number of radiosensitive individuals is needed to clarify the value of rare polymorphic microsatellite repeats in XRCC1 and XRCC3 as a biomarker of clinical radiosensitivity or increased cancer risk.

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Section: Discussionsupporting

confidence: 84%

Microsatellite Polymorphisms in DNA Repair GenesXRCC1, XRCC3andXRCC5in Patients with Gynecological Tumors: Association with Late Clinical Radiosensitivity and Cancer Incidence

Ruyck

Wilding²,

Eijkeren

et al. 2005

Radiation Research

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“…There is evidence that XRCC1 can bind directly to both gapped and nicked DNA, as well as to gapped DNA complexes with DNA polymerase b, indicating that XRCC1 might be independently involved in DNA damage recognition 40. Some studies have suggested that the XRCC1 codon 399Gln allele may lead to diminished DNA repair proficiency compared with the Arg allele 41-43. The XRCC1 Arg399Gln has been associated with decreased DNA repair capacity44 and subsequent accumulation of unrepaired DNA damage45 and increased cancer risk 46-48.…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphisms in DNA repair genes as modulators of Hodgkin disease risk

El‐Zein

Monroy

Etzel

et al. 2009

Cancer

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BACKGROUND:Although the pathogenesis of Hodgkin disease (HD) remains unknown, the results of epidemiologic studies suggest that heritable factors are important in terms of susceptibility. Polymorphisms in DNA repair genes may contribute to individual susceptibility for development of different cancers. However, to the authors' knowledge, few studies to date have investigated the role of such polymorphisms as risk factors for development of HD.METHODS:The authors evaluated the relation between polymorphisms in 3 nucleotide excision repair pathway genes (XPD [Lys751Gln], XPC [Lys939Gln], and XPG [Asp1104His]), the base excision repair XRCC1 (Arg399Gln), and double‐strand break repair XRCC3 (Thr241Met) in a population of 200 HD cases and 220 matched controls. Variants were investigated independently and in combination; odd ratios (OR) were calculated.RESULTS:A positive association was found for XRCC1 gene polymorphism Arg399Gln (OR, 1.77; 95% confidence interval [95% CI], 1.16‐2.71) and risk of HD. The combined analysis demonstrated that XRCC1/XRCC3 and XRCC1/XPC polymorphisms were associated with a significant increase in HD risk. XRCC1 Arg/Arg and XRCC3 Thr/Met genotypes combined were associated with an OR of 2.38 (95% CI, 1.24‐4.55). The XRCC1 Arg/Gln and XRCC3 Thr/Thr, Thr/Met, and Met/Met genotypes had ORs of 1.88 (95% CI, 1.02‐4.10), 1.97 (95% CI, 1.05‐3.73), and 4.13 (95% CI, 1.50‐11.33), respectively. XRCC1 Gln/Gln and XRCC3 Thr/Thr variant led to a significant increase in risk, with ORs of 3.00 (95% CI, 1.15‐7.80). Similarly, XRCC1 Arg/Gln together with XPC Lys/Lys was found to significantly increase the risk of HD (OR, 2.14; 95% CI, 1.09‐4.23).CONCLUSIONS:These data suggest that genetic polymorphisms in DNA repair genes may modify the risk of HD, especially when interactions between the pathways are considered. Cancer 2009. © 2009 American Cancer Society.

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“…XRCC1 protein plays a crucial role in the coordination of two overlapping repair pathways, BER and single strand break repair (SSBR) [29]. Substitutions of Arg194Trp and Arg399Gln (rs25487) may alter the function of the XRCC1 protein [30,31]. …”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

Sandoval-Carrillo

Méndez-Hernández²,

Vazquez-Alaniz³

et al. 2014

IJMS

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Variations in genes involved in DNA repair systems have been proposed as risk factors for the development of preeclampsia (PE). We conducted a case-control study to investigate the association of Human apurinic/apyrimidinic (AP) endonuclease (APEX1) Asp148Glu (rs1130409), Xeroderma Pigmentosum group D (XPD) Lys751Gln (rs13181), X-ray repair cross-complementing group 1 (XRCC) Arg399Gln (rs25487) and X-ray repair cross-complementing group 3 (XRCC3) Thr241Met (rs861539) polymorphisms with PE in a Mexican population. Samples of 202 cases and 350 controls were genotyped using RTPCR. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (OR) and a 95% confidence interval (95% CI) for each polymorphism. The allelic frequencies of APEX1 Asp148Glu polymorphism showed statistical significant differences between preeclamptic and normal women (p = 0.036). Although neither of the polymorphisms proved to be a risk factor for the disease, the APEX1 Asp148Glu polymorphism showed a tendency of association (OR: 1.74, 95% CI = 0.96–3.14) and a significant trend (p for trend = 0.048). A subgroup analyses revealed differences in the allelic frequencies of APEX1 Asp148Glu polymorphism between women with mild preeclampsia and severe preeclampsia (p = 0.035). In conclusion, our results reveal no association between XPD Lys751Gln, XRCC Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of PE in a Mexican mestizo population; however, the results in the APEX1 Asp148Glu polymorphism suggest the need for future studies using a larger sample size.

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Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns

Cited by 21 publications

References 27 publications

Microsatellite Polymorphisms in DNA Repair GenesXRCC1, XRCC3andXRCC5in Patients with Gynecological Tumors: Association with Late Clinical Radiosensitivity and Cancer Incidence

Microsatellite Polymorphisms in DNA Repair GenesXRCC1, XRCC3andXRCC5in Patients with Gynecological Tumors: Association with Late Clinical Radiosensitivity and Cancer Incidence

Genetic polymorphisms in DNA repair genes as modulators of Hodgkin disease risk

Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

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