Association of 8q24.21 rs10505477-rs6983267 Haplotype and Age at Diagnosis of Colorectal Cancer

Haerian, Monir Sadat; Haerian, Batoul Sadat; Rooki, Hassan; Molanaei, Saadat; Kosari, Farid; Obohhat, Maedeh; Hosseinpour, Parisa; Azimzadeh, Pedram; Mohebbi, Seyed Reza; Akbari, Zahra; Zali, Mohammad Reza

doi:10.7314/apjcp.2014.15.1.369

Cited by 13 publications

(7 citation statements)

References 21 publications

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“…According on World Health Organization (WHO) reports, CRC is one of the common diseases in an Asian population (Moghimi-Dehkordi et al, 2012;Haerian et al, 2014). It is noticeable that incidence of this cancer has been rising in an Iranian population during recent decades (Azadeh et al, 2007;Milanizadeh et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Lack of Influence of the SMAD7 Gene rs2337107 Polymorphism on Risk of Colorectal Cancer in an Iranian Population

Akbari

Safari-Alighiarloo²,

Haghighi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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SMAD7 has been identified as a functional candidate gene for colorectal cancer (CRC). SMAD7 protein is a known antagonist of the transforming growth factor beta (TGF-b) signaling pathway which is involved in tumorigenesis. Polymorphisms in SMAD7 may thus alter cancer risk. The aim of this study was to investigate the influence of a SMAD7 gene polymorphism (rs2337107) on risk of CRC and clinicopathological features in an Iranian population. In total, 210 subjects including 105 patients with colorectal cancer and 105 healthy controls were recruited in our study. All samples were genotyped by TaqMan assay via an ABI 7500 Real Time PCR System (Applied Biosystems) with DNA from peripheral blood. The polymorphism was statistically analyzed to investigate the relationship with the risk of colorectal cancer and clinicopathological properties. Logistic regression analysis revealed that there was no significant association between rs2337107and the risk of colorectal cancer. In addition, no significant association between genotypes and clinicopathological features was observed (p value>0.05). Although there was not any association between genotypes and disorder, CT was the most common genotype in this population. This genotype prevalence was also higher in the patients with well grade (54.9%) and colon (72.0%) tumors. Our results provide the first evidence that this polymorphism is not a potential contributor to the risk of colorectal cancer and clinicopathological features in an Iranian population, and suggests the need of a large-scale case-control study to validate our results.

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Section: Introductionmentioning

confidence: 99%

Lack of Influence of the SMAD7 Gene rs2337107 Polymorphism on Risk of Colorectal Cancer in an Iranian Population

Akbari

Safari-Alighiarloo²,

Haghighi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…SNP rs10505477 on chromosome 8q24.21 was firstly identified as a risk locus for CRC by a GWAS in populations derived from the South America and Scotland [23], and then supported by another two GWAS in the Spanish and the East Asians populations as well as several other population-based studies [6, 24–31]. However, there were various studies failed to confirm the association between rs10505477 and CRC risk [12, 24, 32].…”

Section: Discussionmentioning

confidence: 99%

“…While Monir et al . observed tumor site-specific association of rs10505477 with CRC risk merely in colon [31]. …”

Section: Discussionmentioning

confidence: 99%

Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese

Tan

Huang

et al. 2016

Oncotarget

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BackgroundRecent genome-wide association studies (GWAS) identified eighteen single-nucleotide polymorphisms (SNPs) to be significantly associated with the risk of colorectal cancer (CRC). However, overall results of the following replications are inconsistent and little is known about whether these associations also exit in colorectal adenomas (CRA).MethodsThe SNP genotyping was performed using a Sequenom MassARRAY to investigate the association of these eighteen SNPs with colorectal neoplasm in a case-control study consisted of 1049 colorectal cancers, 283 adenomas, and 1030 controls.ResultsTwo of these SNPs, rs10505477 and rs719725, showed evidence of an association in both CRC and CRA in our study population. Besides, seven SNPs (rs10808555, rs7014346, rs7837328, rs704017, rs11196172, rs4779584, and rs7229639) were significantly associated with CRC, and another one SNP rs11903757 was over-represented in CRA compared with controls. The strongest association was provided by rs11196172 (OR = 2.02, 95% CI = 1.66 - 2.46, P < 0.0001) and rs11903757 (OR = 1.96, 95% CI = 1.28 - 3.00, P = 0.0026).ConclusionThese results suggest that some previously reported SNP associations also have impact on CRC and CRA predispositions in the Han Chinese population. A part of genetic risk to CRC is possibly mediated by susceptibility to adenomas.

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“…Three-hundred and nineteen CRC patients diagnosed with colorectal cancer were registered in cancer registry unit of the Tumor grade was classified into high (poorly differentiated), intermediate (moderately differentiated), and low (well differentiated) [5,39].…”

Section: Study Population and Sample Collectionmentioning

confidence: 99%

“…According to the World Health Organization (WHO) data set, the incidence of CRC is rising in Asia with an incidence rate of one million cases and mortality of more than 500,000 per year [1,2]. Previous studies show that the burden of CRC is increasing in Iran [3][4][5]. Genetically, colorectal cancer is the result of accumulation of genetic alterations and destabilization of the genome that is a prerequisite of carcinogenesis.…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphism (K589E) of the EXO1 Gene: Association with Colorectal Cancer Susceptibility and Clinicopathological Features

Aghdaei¹

2014

GHOA

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Background and aim: Exonuclease1 (EXO1) is a member of the RAD2 nuclease family which is involved in mismatch repair (MMR) system and contributes to the maintenance of genomic stability, modulation of DNA recombination and cell cycle arrest mediation. K589E (rs1047840) as a potentially functional polymorphism in EXO1 gene may alter cancer risk by influencing its repair activity. Method:We designed a case-control study consisting of 319 subjects with colorectal cancer (CRC) and 310 healthy controls to investigate the effect of K589E polymorphism on CRC susceptibility and clinicopathological features in an Iranian population. Genotype determination was performed by PCR-RFLP method. Results:We provided the first evidence that there is not any significant association between EXO1 K589E alleles and genotypes and risk of CRC, even after adjustment for sex, age and smoking status (OR=1.033; 95% CI 0.814-1.312). Also analysis of clinicopathological characteristics and genotype distribution did not show any significant correlation. Conclusion:Despite the well-known role of EXO1, our results revealed that EXO1 K589E polymorphism could not be a potential predisposing risk factor in genetic susceptibility to CRC, at least in the studied population. A large scale case-control study will need to be carried out to further validate this polymorphism as a noncontributor to the risk of CRC in Iranian population.

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Association of 8q24.21 rs10505477-rs6983267 Haplotype and Age at Diagnosis of Colorectal Cancer

Cited by 13 publications

References 21 publications

Lack of Influence of the SMAD7 Gene rs2337107 Polymorphism on Risk of Colorectal Cancer in an Iranian Population

Lack of Influence of the SMAD7 Gene rs2337107 Polymorphism on Risk of Colorectal Cancer in an Iranian Population

Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese

Single Nucleotide Polymorphism (K589E) of the EXO1 Gene: Association with Colorectal Cancer Susceptibility and Clinicopathological Features

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