Influence of Two DNA Repair Pathway Polymorphisms in Colorectal Cancer Risk in Southwest Iran

Hosseini, Seyed Mohammad; Mohammadi-Asl, Javad; Talaiezadeh, Abdulhasan; Alidadi, Rahim; Bijanzadeh, Mahdi

doi:10.31557/apjcp.2020.21.7.1919

Cited by 3 publications

(8 citation statements)

References 27 publications

(26 reference statements)

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“…This finding is consistent with observations from studies conducted in other populations, namely, Korean [ 9 ], Polish [ 10 , 11 ], Han Chinese [ 12 , 13 ], Japanese [ 14 ], Romanian [ 15 ], Thai [ 16 ], and Iranian [ 17 , 18 ] ( Table 2 ). Similarly, the AA genotype was associated with CRC under a codominant model in these races: Han Chinese (OR = 2.28 (1.52–3.44), P < 0.0001) [ 12 ] and (OR = 1.93 (1.05–3.54), P =0.03) [ 13 ], Japanese (OR = 1.61 (1.05–2.48), P =0.028) [ 14 ], Romanian (OR = 3.49 (1.55–8.02), P =0.001) [ 15 ], Thai (OR = 4.95 (1.99–12.30), P =0.0005) [ 16 ], and Iranian (OR = 5.30 (1.90–14.20), P =0.001) [ 17 ]. The A allele also showed an increased CRC risk under a dominant model in Korean (OR = 1.61 (1.09–2.39), P =0.017) [ 9 ] and Iranian (OR = 1.78 (1.16–2.74), P =0.009) [ 18 ].…”

Section: Discussionsupporting

confidence: 92%

XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population

Meza-Espinoza,

Peralta-Leal,

Durán-González

et al. 2023

Genetics Research

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Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. Here, we analyzed the association of these polymorphisms with sporadic CRC in a northeastern Mexican population, including 155 male CRC patients and 155 male controls. Genotyping was performed using the RFLP method. An association with CRC was found for the 399A allele (G vs A; OR = 1.48 (1.03–2.13), P = 0.034 ) and for the 399AA genotype in a codominant model (AA vs GG; OR = 3.11 (1.06–9.10), P = 0.031 ). In contrast, there were no significant differences between CRC patients and controls for the C194T polymorphism (C vs T; OR = 0.82 (0.52–1.31), P = 0.41 ). These results are consistent with many similar studies, but further research is needed to verify whether the XRCC1 R194W and R399Q polymorphisms play a role in CRC etiology. The functional significance of these polymorphisms is unclear, but some studies suggest that they influence DNA repair capacity and, thus, cancer risk.

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Section: Discussionsupporting

confidence: 92%

XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population

Meza-Espinoza,

Peralta-Leal,

Durán-González

et al. 2023

Genetics Research

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“…29 Among its more than 300 poly- 18,41 These amino acid substitutions influence the protein-protein interactions between XRCC1 and other BER proteins resulting in altered efficiency, function, and damaged DNA repair capacity leading to genetic instability and carcinogenesis. 13,27,28,31,40,44 Findings regarding the associations of XRCC1 Arg399Gln with CRC have been inconsistent. It has been associated with CRC among the Kashmiri population 38 , South Koreans 27 , Han Chinese from Jiangsu Province, East China 45 , Japanese 39 , and southwest Iranians.…”

Section: Discussionmentioning

confidence: 99%

“…It has been associated with CRC among the Kashmiri population 38 , South Koreans 27 , Han Chinese from Jiangsu Province, East China 45 , Japanese 39 , and southwest Iranians. 40 However, lack of association has been noted in a Malaysian cohort 41 , Han Chinese from the southwest region of China 33 , and Mexican patients. 15 The difference in results from the Han Chinese population from two different parts of China has been reported due to differences in the study participants' geographical location and genetic makeup.…”

Section: Discussionmentioning

confidence: 99%

“…34 It is also associated with breast cancer development among Saudi females 28 , Chinese 35 , and Filipino 36 populations but not among the Finnish population. 37 XRCC1 Arg399Gln is associated with CRC development among Kashmiri 38 , S. Koreans 27 , Japanese 39 , southwest Iranians 40 but not among Malaysians 41 , and Mexican cohorts. 15 Both XRCC1 Arg399Gln and RAD51 G135C have been associated with ovarian cancer among Serbian women.…”

Section: Introductionmentioning

confidence: 96%

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Association of XRCC1 Arg399Gln and RAD51 135 G>C Polymorphisms and Epidemiologic Risk Factors with Colorectal Cancer Among Selected Filipinos

Capungcol¹,

Bathan

Fellizar³

et al. 2021

Acta Med Philipp

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Objectives. Several studies have demonstrated that genetic variants of certain DNA repair genes such as the RAD51 and XRCC1 increase cancer risk substantially. The results were also observed to be race-and tumor sitespecific. Hence, this study aimed to determine the possible association of XRCC1 Arg399Gln and RAD51 135G>C polymorphisms combined with risk factors of colorectal cancer (CRC) among selected Filipinos.Methods. Genomic DNA isolated from peripheral blood samples of histologically confirmed CRC patients (n=70) and their age-and sex-matched clinically healthy controls (n=70) were analyzed for polymorphisms of XRCC1 and RAD51 genes by polymerase chain reaction.Results. The genotypic distribution pattern of RAD51 135G>C (p˃0.05) was not significantly different between the CRC cases and controls. Significantly higher incidence (p=0.016) of the XRCC1 GG genotype was noted among the cases (n=34, 49%) compared with controls (n= 20, 29%). Individuals carrying the XRCC1 AG genotype have a lower risk of developing CRC (OR=0.42, 95% CI=0.21-0.85) than the XRCC1 GG genotype. XRCC1 AG genotype combined with alcohol drinking, smoking, or family history of cancer also showed a lower risk of developing CRC. There was no significant association between the genetic variants of RAD51 135G>C and CRC risk. Carriers of both XRCC1 GG and RAD51 CC genotypes showed a 5x higher risk (OR=5.02; 95%; CI=1.0429-24.1283) compared to those carrying other genotype combinations (p=0.028). Conclusions. XRCC1Arg399Gln but not RAD51 135G>C may be associated with CRC development among Filipinos. Individuals who drink alcohol, smoke tobacco and have a family history of cancer have a lower risk of developing CRC when they are also carrying the XRCC1 AG genotype. The findings may have significant implications in designing personalized methods for screening, diagnosing, and treating CRC.

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“…Genetic polymorphisms in DNA repair genes can impede DNA repair ability, potentially leading to the development of cancers such as CRC [ 11 ]. Among the identified polymorphisms of DNA repair genes, excision repair cross-complementing group 1 ( ERCC1 ) and X-ray repair cross complementing group 1 ( XRCC1 ) play an indispensable role in nucleotide excision repair and may be related to the incidence rate of some cancers [ 12 , 13 ]. As a highly conserved enzyme, ERCC1 participates in the key steps of nucleotide excision repair, and its expression level is a major predictor of cancer response to platinum‑based chemotherapy [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

The role of heavy metals in the development of colorectal cancer

Lou²,

Hong

et al. 2023

BMC Cancer

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Objective To investigate the relationship among 18 heavy metals, microsatellite instability (MSI) status, ERCC1, XRCC1 (rs25487), BRAF V600E and 5 tumor markers and their role in the development of colorectal cancer (CRC). Methods A total of 101 CRC patients and 60 healthy controls were recruited in the present study. The levels of 18 heavy metals were measured by ICP-MS. MSI status and the genetic polymorphism were determined by PCR (FP205-02, Tiangen Biochemical Technology Co., Ltd., Beijing, China) and Sanger sequencing. Spearman’s rank correlation was used to analyze the relationship among various factors. Results The level of selenium (Se) was lower in the CRC group compared with the control group (p < 0.01), while vanadium (V), arsenic (As), tin (Sn), barium (Ba) and lead (Pb) were higher (p < 0.05), chromium (Cr) and copper (Cu) were significantly higher (p < 0.0001) in the CRC group than those in the control group. Multivariate logistic regression analysis indicated that Cr, Cu, As and Ba were the risk factors for CRC. In addition, CRC was positively correlated with V, Cr, Cu, As, Sn, Ba and Pb, but negatively correlated with Se. MSI was positively correlated with BRAF V600E, but negatively correlated with ERCC1. BRAF V600E was positively correlated with antimony (Sb), thallium (Tl), CA19-9, NSE, AFP and CK19. XRCC1 (rs25487) was found to be positively correlated with Se but negatively correlated with Co. The levels of Sb and Tl were significantly higher in the BRAF V600E positive group compared to the negative group. The mRNA expression level of ERCC1 was significantly higher (P = 0.035) in MSS compared to MSI. And there was a significant correlation between XRCC1 (rs25487) polymorphism and MSI status (P<0.05). Conclusion The results showed that low level of Se and high levels of V, As, Sn, Ba, Pb, Cr, and Cu increased the risk of CRC. Sb and Tl may cause BRAF V600E mutations, leading to MSI. XRCC1 (rs25487) was positively correlated with Se but negatively correlated with Co. The expression of ERCC1 may be related to MSS, while the XRCC1 (rs25487) polymorphism is related to MSI.

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Influence of Two DNA Repair Pathway Polymorphisms in Colorectal Cancer Risk in Southwest Iran

Cited by 3 publications

References 27 publications

XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population

XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population

Association of XRCC1 Arg399Gln and RAD51 135 G>C Polymorphisms and Epidemiologic Risk Factors with Colorectal Cancer Among Selected Filipinos

The role of heavy metals in the development of colorectal cancer

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