A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population

An increasing body of evidence has indicated that polymorphisms in the miRNA binding site of target gene can alter the ability of miRNAs to bind their target genes and modulate the risk of cancer. We aimed to investigate the association between a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR and the risk of colorectal cancer (CRC) in a Chinese Han population. The polymorphism rs141178472 was analyzed in a case-control study, including 386 CRC patients and 394 age- and sex-matched controls; the relationship between the polymorphism and the risk of colorectal cancer was examined. Individuals carrying the rs141178472 CC genotype or C allele had an increased risk of developing CRC (CC versus TT, OR (95% CI): 1.716 (1.084–2.716),P=0.022; C versus T, OR (95% CI): 1.258 (1.021–1.551),P=0.033). Furthermore, the expression of PIK3CA was detected in the peripheral blood mononucleated cell of CRC patients, suggesting that mRNA levels of PIK3CA might be associated with SNP rs141178472. These findings provide evidence that a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR may play a role in the etiology of CRC.

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Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

Bioscience Reports ◽

10.1042/bsr20181074 ◽

2019 ◽

Vol 39 (1) ◽

Cited By ~ 1

Author(s):

Dexi Jin ◽

Min Zhang ◽

Hongjun Hua

Keyword(s):

Colorectal Cancer ◽

Gene Polymorphisms ◽

Colorectal Carcinogenesis ◽

Chinese Han Population ◽

Control Group ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Hogg1 Gene ◽

Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

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MicroRNA Binding Site Polymorphisms of the Long-Chain Noncoding RNA MALAT1 are Associated with Risk and Prognosis of Colorectal Cancer in Chinese Han Population

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2020.0013 ◽

2020 ◽

Vol 24 (5) ◽

pp. 239-248

Author(s):

Qinyan Yang ◽

Weihong Zheng ◽

Zhong Shen ◽

Guoqiang Huang ◽

Guangen Yang

Keyword(s):

Colorectal Cancer ◽

Binding Site ◽

Noncoding Rna ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Long Chain

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A Functional Variant at the miR-214 Binding Site in the Methylenetetrahydrofolatereductase Gene Alters Susceptibility to Gastric Cancer in a Chinese Han Population

Cellular Physiology and Biochemistry ◽

10.1159/000430125 ◽

2015 ◽

Vol 36 (2) ◽

pp. 622-630 ◽

Cited By ~ 9

Author(s):

Qiaoyun Chen ◽

Rong Qin ◽

Yue Fang ◽

Hao Li ◽

Yangchen Liu

Keyword(s):

Gastric Cancer ◽

Binding Site ◽

Cancer Patients ◽

Binding Sites ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Functional Variant ◽

Gastric Cancer Patients

Background and Aims: Single nucleotide polymorphisms in miRNA binding sites, which are located in mRNA 3' untranslated regions (3'-UTRs), were recently found to influence microRNA-target interactions. Specifically, such polymorphisms can modulatebinding affinity or create or destroy miRNA-binding sites; such variants have also been found to be associated with cancer risk. In this study, we explored the effect of a functional variant at the miR-214 binding site in the methylenetetrahydrofolate reductase gene (rs114673809) on gastric cancer (GC) risk in a hospital-based case-control study in a Chinese Han population. Methods and Results: We genotyped the rs114673809 polymorphism in 345 gastric cancer patients and 376 cancer-free controls using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique. The functions of rs114673809 were investigated using a luciferase activity assay and validated by immunoblotting. We found that participants carrying the rs114673809 AA genotype or A allele had a significantly increased risk of gastric cancer (OR = 1.667, 95% CI = 1.044-2.660, P = 0.034; OR = 1.261, 95% CI = 1.017-1.563, P = 0.037, respectively) compared to those carrying the GG genotype and G allele. In addition, rs114673809 modified the binding of hsa-miR-214 to MTHFR as well as MTHFR protein levels in gastric cancer patients. Conclusion: Our data suggested that rs114673809, which is located at the miR-214 binding site in the 3'-UTR of MTHFR, may play an important role in the development of gastric cancer in a Chinese Han population.

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Association between the omentin-1 gene rs2274907 A>T polymorphism and colorectal cancer in the Chinese Han population: a case-control study

Journal of International Medical Research ◽

10.1177/03000605211006522 ◽

2021 ◽

Vol 49 (4) ◽

pp. 030006052110065

Author(s):

Yaqin Zhang ◽

Xiaotong Zhao ◽

Yongxiang Li ◽

Youmin Wang ◽

Mingwei Chen

Keyword(s):

Colorectal Cancer ◽

The Body ◽

Chinese Han Population ◽

Enzyme Linked Immunosorbent Assay ◽

Control Groups ◽

Chinese Han ◽

Han Population ◽

Potential Biomarker ◽

Increased Risk ◽

And Control

Objective To explore the relationship between the omentin-1 gene rs2274907 A>T polymorphism and colorectal cancer (CRC) in the Chinese Han population. Methods rs2274907 A>T was assessed by PCR–restriction fragment length polymorphism analysis. Plasma omentin-1 expression from 358 patients with CRC and 286 healthy controls was analyzed by enzyme-linked immunosorbent assay. CRC and control groups were divided into subgroups according to the body mass index (BMI) threshold of 25 kg/m2. Results No significant differences were observed between CRC and control groups in terms of genotype or allele frequencies of rs2274907 A>T. Compared with individuals with BMI <25 kg/m2 and the rs2274907 TT genotype, those with AA+AT genotypes and BMI ≥25 kg/m2 had a 3.027-fold increased risk of CRC. A significant tendency toward a higher stage of colorectal adenocarcinomas and depth of invasion was observed in individuals with the rs2274907 AA genotype compared with other genotypes. Conclusions The omentin-1 gene rs2274907 A>T polymorphism does not seem to play a critical role in the development of CRC in the Chinese Han population, but an interaction between the rs2274907 A allele and BMI may increase the CRC risk. The rs2274907 AA genotype is a potential biomarker for CRC stage progression.

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SYNJ2 Variant Rs9365723 is Associated with Colorectal Cancer Risk in Chinese Han Population

The International Journal of Biological Markers ◽

10.5301/jbm.5000182 ◽

2016 ◽

Vol 31 (2) ◽

pp. 138-143 ◽

Cited By ~ 7

Author(s):

Qingguo Du ◽

Xueyan Guo ◽

Xiyang Zhang ◽

Wenjing Zhou ◽

Zhuo Liu ◽

...

Keyword(s):

Colorectal Cancer ◽

Colon Cancer ◽

Genetic Model ◽

Association Studies ◽

Chinese Han Population ◽

Genome Wide Association Studies ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Increased Risk

Purpose Colorectal cancer (CRC) is the third most common cancer and fourth leading cause of cancer mortality, and twin studies have shown that approximately 35% of the variation in susceptibility to CRC involves inherited genetic differences. We sought to investigate potential genetic associations between some single nucleotide polymorphisms (SNPs) and the risk of CRC in the Chinese Han population. Methods We conducted a case-control study including 269 cases and 309 controls. Sixteen SNPs associated with CRC risk were selected from previous genome-wide association studies and genotyped using Sequenom MassARRAY technology. Odds ratios and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusting for age and gender. Results Using the chi-squared test we found that rs9365723 was associated with CRC risk (p = 0.012). With genetic model analysis, the genotype A/G-G/G (OR = 1.50; 95% CI 1.02-2.21; p = 0.038) of rs9365723 showed an increased risk of CRC in the dominant model. Furthermore, we found that rs9365723 was associated with an increased risk only for colon cancer but not rectal cancer (p = 0.009 and p = 0.414, respectively). Conclusions Our results, combined with previous studies, suggest that rs9365723, located on SYNJ2, is associated with the risk of CRC in a Chinese population. Thus, SYNJ2 may play a role in the development of CRC, especially colon cancer.

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C5orf66 rs4976270/rs639933 Are Associated with Colorectal Cancer Risk in Southern Chinese Han Population: A Case-Control Study

Digestion ◽

10.1159/000518519 ◽

2021 ◽

pp. 1-13

Author(s):

Xingyun Zhan ◽

Fenghua Bai ◽

Sifeng Lin ◽

Tao Feng ◽

Xiaosi Tang ◽

...

Keyword(s):

Colorectal Cancer ◽

Case Control Study ◽

Case Control ◽

Chinese Han Population ◽

Candidate Snps ◽

Chinese Han ◽

Han Population ◽

Southern Chinese ◽

Increased Risk ◽

Control Study

Background: Colorectal cancer (CRC) is one of the common malignant tumors, with high mortality and poor prognosis. Our study aimed to determine the association between the long noncoding RNA (LncRNA) C5orf66 polymorphism and CRC risk in southern Chinese Han population. Method: Using the experimental design of “case-control” study (512 cases and 513 controls), we selected 4 candidate single-nucleotide polymorphisms (SNPs) of C5orf66. All candidate SNPs were genotyped by Agena MassARRAY. Logistic regression was used to analyze the association between SNPs and CRC risk. Then, we used false-positive report probability analysis to detect whether the significant result is just a chance or noteworthy observation. Multi-factor dimensionality reduction was used to analyze the interaction of “SNP-SNP” in CRC risk. Results: Our results showed that C5orf66 SNPs rs4976270 (odds ratio [OR] = 1.69, p = 0.021) and rs639933 (OR = 1.67, p = 0.024) were, respectively, associated with increasing CRC risk in the southern Chinese Han population. Stratified analysis showed that rs4976270 and rs639933 were significantly associated with an increased risk of CRC in subgroups (>60 years, body mass index ≤24 and drinking) under multiple genetic models. In addition, rs254563 and rs647161 also had potential association with CRC risk in subgroups (BMI ≤24 and drinking). Finally, haplotype analysis results showed that haplotype “TA” was significantly associated with increased CRC risk (OR = 1.21, confidence interval = 1.47–2.02, p = 0.043). Conclusion: Our study provides a new idea for the risk assessment of CRC. LncRNA C5orf66 SNPs have a certain association with CRC risk in the southern Chinese Han population.

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