Colorectal cancer‐susceptibility single‐nucleotide polymorphisms in <scp>K</scp>orean population

Hong, Sung Noh; Park, Chang-Ho; Kim, Jong il; Kim, Duk Hwan; Kim, Hee Cheol; Chang, Dong Kyung; Rhee, Poong‐Lyul; Kim, Jae J.; Rhee, Jong Chul; Son, Hee Jung; Kim, Young Ho

doi:10.1111/jgh.12331

Cited by 14 publications

(12 citation statements)

References 32 publications

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“…Second, the number of rs4939827 in Asian studies is still not as large as desired. In addition, the results from nine studies incorporated in this meta-analysis conflict with each other [14, 19, 22, 33–38]. Therefore, more Asian studies are still needed to clearly evaluate the interactions of SMAD7 rs4939827 and CRC in this ethnic group.…”

Section: Discussionmentioning

confidence: 99%

“…In a number of other studies these SMAD7 polymorphisms have been associated with the risk of developing multiple cancers, including CRC [12–14], renal [15], and liver cancer [16]. However, other case-control studies have reported that these polymorphisms are not associated with cancer risk, in CRC [17–19], breast cancer [20], and lymphocytic leukemia [21]. These inconsistencies may be partially due to the relatively small sample sizes in each of these studies.…”

Section: Introductionmentioning

confidence: 99%

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SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Huang

Nie

et al. 2016

Oncotarget

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Mothers against decapentaplegic homolog 7 (SMAD7) inhibits the transforming growth factor-β (TGF-β) signaling pathway, which regulates carcinogenesis and cancer progression. A number of studies have reported that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) are associated with colorectal cancer (CRC) risk, but the results from these studies remain conflicting. To determine a more precise estimation of the relationship between SMAD7 and CRC, we undertook a large-scale meta-analysis of 63 studies, which included a total of 187,181 subjects (86,585 cases and 100,596 controls). The results of our meta-analysis revealed that the C allele of rs4464148 [CC vs. TT+TC, odds ratio (OR) =1.23, 95% confidence interval (CI): 1.14–1.33, P < 0.01], the T allele of rs4939827 [TT vs. CC+TC, odds ratio OR=1.15, 95%CI:1.07–1.22, P < 0.01] and the T allele of rs12953717 [TT vs. CC+TC, OR =1.22, 95%CI:1.16–1.29, P < 0.01] were all associated with the increased CRC risk. Subgroup analysis according to ethnicity showed rs4464148 and rs12953717 were associated with the risk of CRC in both Caucasians and Asians, whereas rs4939827 was a risk polymorphism for CRC specifically in Caucasians. In summary, this large-scale meta-analysis indicated that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) correlate with CRC.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Huang

Nie

et al. 2016

Oncotarget

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“…In addition, 1000 unrelated healthy control samples were obtained from an Ansan-Sihwa population cohort for the pooled sequencing,23 and 1000 unrelated healthy control samples were obtained from a Korean twin cohort of Seoul National University (n=500), and a health checkup population of Seoul National University Hospital (n=500) for validation testing.…”

Section: Methodsmentioning

confidence: 99%

Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants

Hong

Park

et al. 2015

Gut

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“…In addition, Hong and Park showed that rs4939827, rs4779584, and rs10795668 may contribute to the development of CRC in the Korean population and European populations.…”

Section: Discussionmentioning

confidence: 99%

Impact of microRNA‐375 and its target gene SMAD‐7 polymorphism on susceptibility of colorectal cancer

Shaker

Mohammed

et al. 2017

Clinical Laboratory Analysis

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Background Colorectal cancer (CRC) has a high morbidity and mortality. Many studies reported that mir‐375 is frequently down‐regulated in many cancers including esophageal cancer, hepatocellular carcinoma, breast cancer and leukemias. Aim Our aim was to study the expression of microRNA‐375 and its target gene SMAD‐7 polymorphisms (rs4939827) in CRC patients in comparison to control subjects and to correlate these results with clinical data of patients to elucidate their role in pathogenesis and early diagnosis of CRC. Material and methods The present study was conducted on 122 subjects divided into 86 patients with CRC and 36 age‐ and sex‐matched controls. The followings were done to all subjects: full history taking, full clinical examination, complete blood picture, serum (ALT, AST), serum albumin, CEA, TLC, PLT, and creatinine. Gene expression of miRNA‐375 from serum was done by real‐time PCR. Gene polymorphism SNPs of SMAD7 (rs4939827) was also done in DNA extracted from blood by real‐time PCR. Results As regards the polymorphism of SMAD7, we found that CC (wild) genotype has high percentage in controls compared to CRC cases (36.1% vs 15.1%). Meanwhile, the mutant and heterozygotes genotypes showed high percentage among cases compared to controls (33.7%, and 51.2% respectively) vs (22.2%, and 41.7% respectively) with no significant statistical analysis. There was a statistically significant high T‐allelic frequency among cases and C‐allelic frequency among controls. There was a statistically significant association between fold change in micro RNA (‐375) and the susceptibility to CRC as there is down‐regulation of the microRNA‐375 in CRC group with fold change in 0.42±0.27. Conclusion Micro RNA‐375 and rs4939827 SNP in SMAD7 could be considered as potential markers for detecting and early diagnosing CRC patients.

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Colorectal cancer‐susceptibility single‐nucleotide polymorphisms in Korean population

Cited by 14 publications

References 32 publications

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants

Impact of microRNA‐375 and its target gene SMAD‐7 polymorphism on susceptibility of colorectal cancer

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