Correction: The hMLH1 -93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population.
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ABSTRACT:
SUBMITTER: Niu L
PROVIDER: S-EPMC6544311 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Correction: The hMLH1 -93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population.
Niu Leilei L Li Shumin S Liang Huamao H Li Hua H
PloS one 20190531 5
[This corrects the article DOI: 10.1371/journal.pone.0135822.]. ...[more]
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Project description:BACKGROUND:As a mismatch repair (MMR) gene, hMLH1 plays an important role in the maintenance of chromosomal integrity. Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated. METHODS:In a case-control analysis, we assessed the association between these two polymorphisms and ovarian cancer risk in 421 ovarian cancer patients and 689 control subjects in the Chinese population using logistic regression. RESULTS:We found that the variant hMLH1 genotypes (-93AA and AG) are associated with risk of ovarian cancer (adjusted odds ratio [OR] = 2.02, 95% confidence interval [CI] = 1.42-2.89) compared with the -93GG genotype. The A allele increases the risk of ovarian cancer in a dose-dependent manner (P<10-4). Functional test showed that -93A allele increased hMLH1 promoter transcriptional activity and the luciferase activity. However, no significant difference was found in the genotype frequencies at the Ile219Val site between the cases and controls. CONCLUSIONS:These findings indicate that the -93G>A polymorphism in hMLH1 may affect ovarian cancer susceptibility in the Chinese population.
| S-EPMC4537278 | biostudies-literature
Project description:Colorectal cancer (CRC) is a worldwide problem for public health. mutL homolog 1 (MLH1) is a key component of the mismatch repair system, and the MLH1-93G/A polymorphism (rs1800734) is predicted to affect MLH1 protein expression, suggesting that the polymorphism may be associated with the cancer risk; however, the results concerning this have been inconsistent. In order to investigate the possible correlation between human (h)MLH1-93G/A polymorphism and the development and progression of sporadic CRC (SCRC) in China, the genotypes of hMLH1-93G/A were detected by the TaqMan MGB probe method in 312 SCRC patients and 300 healthy controls, and immunohistochemical staining was also performed to measure the expression of hMLH1 in cases with different alleles among the SCRC patients and normal controls. It was observed that the A/A genotype and A allele significantly increased the risk of developing Duke's stage C+D CRC and lymphatic metastasis. hMLH1 expression of the A allele was lower than that of the G allele in CRC. By contrast, there was no statistically significant difference in hMLH1 expression for the A allele and the G allele in the normal controls. These results suggested that hMLH1-93G/A polymorphism may not be associated with the overall risk of CRC, but that the hMLH1-93A/A genotype and A allele are associated with the progression of CRC.
| S-EPMC5104227 | biostudies-literature
Project description:The purpose of this study was to determine the genotype and allele frequencies of hMLH1 (-93G>A and I219V) and hMSH2 (-118T>C and IVS12-6T>C) polymorphisms in patients with gastric carcinoma and normal controls, and to evaluate the association between these polymorphisms and the risk of gastric cancer in a hospital-based Chinese population. Genomic DNA was extracted from peripheral blood lymphocytes. A TaqMan assay was used to determine the genotype and allele frequencies of hMLH1 and hMSH2 polymorphisms in data obtained from 554 gastric cancer cases and 592 controls. Unconditional logistic regression was used to assess the association between the four single nucleotide polymorphisms (SNPs) and gastric carcinoma risk. No evidence of an association among any of the four polymorphisms and the risk of gastric cancer was observed. However, when gastric cancer patients were further stratified by age, gender, smoking status, alcohol use and clinicopathological characteristics, and compared with the control populations, the combined variant genotype hMSH2 -118T>C (TC+CC) was not only associated with an increased risk of gastric cancer in subgroups of younger subjects [ages ?63years; adjusted odds ratio (OR)=1.51, 95% confidence interval (CI), 1.05-2.16], but also with diffuse tumors (adjusted OR=1.41, 95% CI, 1.01-1.96). These data indicate that the polymorphisms of -93G>A, I219V and IVS12-6T>C are not associated with the risk of gastric cancer. However, hMSH2-118T>C combined with variant genotypes (TC+CC) may confer a potential risk of gastric cancer in the Chinese population.
| S-EPMC3362438 | biostudies-literature
Project description:PurposeThe present study is aimed at exploring whether rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene confer risk for ovarian cancer.MethodsA total of 80 patients with ovarian cancer were selected from the first affiliated hospital of Soochow University in Jiangsu Province from January 2016 to June 2021, including 48 cases that were premenopausal and 32 cases that were menopausal. 130 healthy women who participated in normal physical examinations during the same period were selected as the control group. The rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene were detected by the fluorescent probe method.ResultsFor rs3213173 and rs3213176 loci, there were no statistical significances in genotype distribution frequency between the ovarian cancer group and the control group (P > 0.05). For rs3213172 loci, a significant difference was observed in CT genotype between the ovarian cancer group and the control group (P=0.024).ConclusionE2F1 gene rs3213173 and rs3213176 polymorphisms confer no risk to ovarian cancer risk. The CT genotype of E2F1 gene rs3213172 polymorphism is associated with an increased risk of ovarian cancer, and E2F1 gene rs3213172 polymorphism may be a novel marker for the risk prediction of ovarian cancer.
| S-EPMC9252677 | biostudies-literature
Project description:AimTo explore the association between single nucleotide polymorphisms (SNPs) at 8q24 and gastric cancer risk.MethodsA case-control investigation including 212 gastric cancer patients and 377 healthy controls was conducted. The genotypes of SNPs (rs6983267, rs7008482 and rs10808555) were examined and established through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Multivariate logistic regression models were used to evaluate the association between SNPs and gastric cancer.ResultsThe genotype frequencies of rs6983267 in gastric cancer patients were obviously different from those in the control (P = 0.005). GT genotype of rs6983267 was associated with an increased risk of gastric cancer compared with GG genotype (adjusted odds ratio = 2.01, 95% confidence interval: 1.28-3.14). Further stratified analysis indicated that rs6983267 GT genotype facilitated the risk of gastric cancer of non-cardiac and intestinal type (OR: 2.638, 95% CI: 1.464-4.753; OR: 1.916, 95% CI: 1.166-3.150, respectively).ConclusionThis study demonstrates for the first time that rs6983267 is involved in susceptibility to gastric cancer, although further large-sample investigations are still needed.
| S-EPMC3072642 | biostudies-literature
Project description:BackgroundHereditary non-polyposis colorectal cancer (HNPCC) is caused by germline mutations of mismatch repair genes, usually in hMLH1 or hMSH2. All earlier studies on penetrance except one population based study were conducted in HNPCC families and did not correct for the way in which these families were ascertained.ObjectiveTo obtain estimates of the risk of colorectal cancer (CRC) and endometrial cancer (EC) for carriers of disease causing mutations of the hMSH2 and hMLH1 genes.MethodsFamilies with known germline mutations of hMLH1 (n = 39) and hMSH2 (n = 45) were extracted from the Dutch HNPCC cancer registry. Ascertainment-corrected maximum likelihood estimation was carried out on a competing risks model for cancer of the colorectum and endometrium.ResultsBoth loci were analysed jointly as there was no significant difference in risk (p = 0.08). At age 70, colorectal cancer risk for men was 26.7% (95% confidence interval, 12.6% to 51.0%) and for women, 22.4% (10.6% to 43.8%); the risk for endometrial cancer was 31.5% (11.1% to 70.3%).ConclusionsCurrent estimates of the CRC risk of mutations to the hMLH1 and hMSH2 locus should be replaced by considerably lower risks which account for the selection of the families.
| S-EPMC1736072 | biostudies-literature
Project description:The co-stimulatory molecule CD40 plays an important role in anti-tumor responses by promoting cytotoxic T lymphocyte (CTL) activity and differentiation of helper T cells. Growing evidence suggests that single nucleotide polymorphisms (SNPs) in CD40 are associated with the susceptibility to cancer. This study investigated the association between the CD40 -1C/T SNP (rs1883832) and lung cancer in a Chinese population.We conducted a hospital-based case-control study including 105 lung cancer patients and 109 healthy control subjects. The -1C/T SNP in CD40 was genotyped by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and its association with lung cancer susceptibility was evaluated.The distribution of the genotypes of CD40-1C/T was significantly different between lung cancer patients and controls. The frequency of the TT genotype (adjusted P = 0.017; overall risk [OR] = 2.94; 95% confidence interval [CI] = 1.21-7.13) and TT/CT genotype (adjusted P = 0.020; OR = 1.95; 95% CI = 1.11-3.43) were significantly higher in lung cancer patients than that in controls. When the cases were categorized by tumor histology, the TT genotype was associated with a significantly increased risk of squamous cell carcinoma (adjusted OR = 6.53; 95% CI = 1.97-21.61; P = 0.002).Our findings suggest that the CD40 -1C/T SNP (rs1883832) is correlated with the susceptibility to lung cancer in Chinese, and the TT genotype may further increase the risk of lung cancer.
| S-EPMC4713647 | biostudies-literature
Project description:Previously, we have identified single nucleotide polymorphisms (SNPs) rs7958904 and rs4759314 in long non-coding RNA HOX transcript antisense RNA (HOTAIR) were significantly associated with risk of colorectal and gastric cancer, respectively. Here, we aimed to investigate the association between HOTAIR SNPs and cervical cancer (CC) susceptibility. A total of 1209 cases and 1348 controls were enrolled for association study and genotyped with TaqMan allelic discrimination method. The Cancer Genome Atlas (TCGA) database was utilized for in vivo analysis of allele-specific HOTAIR expression. MTT assay was employed for evaluation of allele-specific cell proliferation. The rs7958904 CC genotype was related to an increased risk of cervical cancer compared with the GG/GC genotypes (OR?=?1.57, 95% CI?=?1.10-2.25). TCGA database showed the CC tissues with rs7958904 CC genotype had higher HOTAIR expression than those with GG genotype (P?=?0.046). MTT assay demonstrated a growth-promoting role of rs7958904 C allele on CC cells. Further functional studies on the effect of rs7958904 on biological behavior of CC cells are needed to confirm and extend our findings. In conclusion, HOTAIR rs7958904 might influence CC susceptibility through modulation of CC cell proliferation, and could serve as a diagnostic biomarker.
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Project description:BACKGROUND:Accumulated studies have evaluated the association of pre-miR-218 rs11134527 polymorphism with cancer risk in Chinese population. However, the results remain controversial. METHODS:To derive a more precise and more comprehensive estimation of the relationship, six studies focused on Chinese population were included for the pooled analysis for pre-miR-218 rs11134527 polymorphism using odds ratios (ORs) with 95% confidence intervals (CIs). RESULTS:Pre-miR-218 rs11134527 polymorphism was associated with cancer risk (G versus A, OR =0.93, 95% CI: 0.88-0.98; GG versus AG + AA, OR =0.88, 95% CI: 0.79-0.97; GG versus AA, OR =0.85, 95% CI: 0.76-0.96). In the stratified analysis by cancer type, the pre-miR-218 rs11134527 polymorphism was only associated with the risk of cervical cancer (G versus A, OR =0.90, 95% CI: 0.83-0.98; GG versus AG + AA, OR =0.80, 95% CI: 0.68-0.94; GG versus AA, OR =0.79, 95% CI: 0.66-0.94). CONCLUSION:These findings suggest that the pre-miR-218 rs11134527 genetic polymorphism may decrease the susceptibility to cervical cancer, which needs to be verified or linked with functional studies.
| S-EPMC4521665 | biostudies-literature
Project description:BACKGROUND:Besides environment and living habits, such as a sedentary lifestyle, smoking and drinking, genetic variation also plays an important role in the development of colorectal cancer (CRC). This study was aimed to investigate the role of miR-27a rs895819 polymorphism on CRC risk in Chinese population. METHODS:In a case-control study including 208 CRC and 312 age- and gender-matched healthy control subjects, the rs895819 polymorphism was genotyped using the TaqMan allelic discrimination assay. Furthermore, a pooled analysis based on eligible studies was performed by using the STATA software. RESULTS:Logistic regression analysis showed that the rs895819 polymorphism was not associated with CRC risk. However, a pooled analysis based on five studies from Chinese population showed a statistically significant association between the rs895819 polymorphism and CRC risk (GG vs AA: OR = 1.56, 95% CI = 1.27-1.92, Pz < .01; (AG + GG) vs AA: OR = 1.14, 95% CI = 1.01-1.30, Pz = .04; GG vs (AG + AA): OR = 1.54, 95% CI = 1.27-1.88, Pz < .01; G vs A: OR = 1.20, 95% CI = 1.09-1.33, Pz < .01). CONCLUSION:Our study suggests that miR-27a rs895819 polymorphism plays an important role in CRC risk in Chinese population and may serve as a valuable biomarker for predicting an individual's susceptibility to CRC.
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