Diagnostic efficiency of conventional ultrasound, shear wave elastography, and superb microvascular imaging in evaluating ulnar neuropathy at the elbow.

INTRODUCTION/AIMS: The current diagnosis of ulnar neuropathy at the elbow (UNE) relies mainly on the clinical presentation and nerve electrodiagnostic (EDX) testing, which can be uncomfortable and yield false negatives. The aim of this study was to investigate the diagnostic value of conventional ultrasound, shear wave elastography (SWE), and superb microvascular imaging (SMI) in diagnosing UNE. METHODS: We enrolled 40 patients (48 elbows) with UNE and 48 healthy volunteers (48 elbows). The patients were categorized as having mild, moderate or severe UNE based on the findings of EDX testing. The cross-sectional area (CSA) was measured using conventional ultrasound. Ulnar nerve (UN) shear wave velocity (SWV) and SMI were performed in a longitudinal plane. RESULTS: Based on the EDX findings, UNE severity was graded as mild in 4, moderate in 10, and severe in 34. The patient group showed increased ulnar nerve CSA and stiffness at the site of maximal enlargement (CSA mean at the site of max enlargement [CSAmax] and SWV mean at the site of max enlargement [SWVmax]), ulnar nerve CSA ratio, and stiffness ratio (elbow-to-upper arm), compared with the control group (p < .001). Furthermore, the severe UNE group showed higher ulnar nerve CSAmax and SWVmax compared with the mild and moderate UNE groups (p < .001). The cutoff values for diagnosis of UNE were 9.5 mm2 for CSAmax, 3.06 m/s for SWVmax, 2.00 for CSA ratio, 1.36 for stiffness ratio, and grade 1 for SMI. DISCUSSION: Our findings suggest that SWE and SMI are valuable diagnostic tools for the diagnosis and assessment of severity of UNE.

Active Ingredients of Reduning Injection Maintain High Potency against SARS-CoV-2 Variants.

OBJECTIVE: To investigate the anti-coronavirus potential and the corresponding mechanisms of the two ingredients of Reduning Injection: quercetin and luteolin. METHODS: A pseudovirus system was designed to test the efficacy of quercetin and luteolin to inhibit SARS-CoV-2 infection and the corresponding cellular toxicity. Luteolin was tested for its activities against the pseudoviruses of SARS-CoV-2 and its variants. Virtual screening was performed to predict the binding sites by Autodock Vina 1.1.230 and PyMol. To validate docking results, surface plasmon resonance (SPR) was used to measure the binding affinity of the compounds with various proteins of the coronaviruses. Quercetin and luteolin were further tested for their inhibitory effects on other coronaviruses by indirect immunofluorescence assay on rhabdomyosarcoma cells infected with HCoV-OC43. RESULTS: The inhibition of SARS-CoV-2 pseudovirus by luteolin and quercetin were strongly dose-dependent, with concentration for 50% of maximal effect (EC50) of 8.817 and 52.98 µmol/L, respectively. Their cytotoxicity to BHK21-hACE2 were 177.6 and 405.1 µmol/L, respectively. In addition, luetolin significantly blocked the entry of 4 pseudoviruses of SARS-CoV-2 variants, with EC50 lower than 7 µmol/L. Virtual screening and SPR confirmed that luteolin binds to the S-proteins and quercetin binds to the active center of the 3CLpro, PLpro, and helicase proteins. Quercetin and luteolin showed over 99% inhibition against HCoV-OC43. CONCLUSIONS: The mechanisms were revealed of quercetin and luteolin inhibiting the infection of SARS-CoV-2 and its variants. Reduning Injection is a promising drug for COVID-19.

[Changes in the functional connectivity of the thalamus in insomniac ED patients with yin deficiency and fire syndrome: An exploration based on functional MRI findings].

OBJECTIVE: To investigate the changes of nocturnal erectile function and functional connectivity (FC) of bilateral thalami in insomniac ED patients with yin deficiency and fire syndrome. METHODS: We enrolled 30 healthy controls and 87 ED patients with yin deficiency and fire syndrome, 41 with and the other 46 without insomnia. Using IIEF-5 and Pittsburgh Sleep Quality Index (PSQI), we evaluated the nocturnal erectile function and sleep quality of the patients and compared the clinical indicators between the two groups. Then we collected and preprocessed the MRI data on the cerebral function of the 15 ED patients with insomnia, another 15 without insomnia and the 30 healthy controls. With the thalamus as the region of interest (ROI), we calculated and compared the FC values of brain regions between the ED patients (with or without insomnia) and healthy controls, and corrected the results for multiple comparisons using the AlphaSim method. RESULTS: Compared with the patients without insomnia, those with insomnia had a lower duration of erectile episode and tumescence and rigidity activity units in the tip of the penis. With the left thalamus as the ROI, the right middle frontal gyrus and inferior parietal were shown to be the differential brain regions among the three groups. Compared with the healthy controls, the patients without insomnia showed decreased FC values between the left thalamus and left orbital part of the middle frontal gyrus, insula, putamen and right thalamus, while those with insomnia exhibited decreased FC values between the left thalamus and bilateral middle frontal gyri, inferior parietal, calcarine fissure, parahippocampal gyrus, left superior parietal gyrus, right precuneus and inferior temporal gyrus, and they also exhibited decreased FC values between the left thalamus and middle frontal gyrus in comparison with those without insomnia. With the right thalamus as the ROI, the left medial superior frontal gyrus, bilateral calcarine fissure and right thalamus were found to be the differential brain regions among the three groups. Compared with the healthy controls, the patients without insomnia showed decreased FC values between the right thalamus (including the right thalamus itself) and left medial orbital superior frontal gyrus, superior temporal gyrus (temporal pole), middle temporal gyrus, insula and right orbital part of the inferior frontal gyrus, while those with insomnia manifested decreased FC values between the right thalamus and middle frontal gyrus, inferior parietal, left superior parietal gyrus and calcarine fissure, and they also manifested increased FC values between the right thalamus and medial superior frontal gyrus, and decreased FC values between the right thalamus and left calcarine fissure in comparison with those without insomnia. CONCLUSION: ED patients with insomnia have more serious clinical symptoms, with FC changes in the thalamocortical loop, which might be the pathological mechanisms of ED with insomnia.

Effects of subitems in the colorectal cancer screening protocol on the Chinese colorectal cancer screening program: an analysis based on natural community screening results.

BACKGROUND: To date, no single colorectal cancer (CRC) screening strategy has been determined to be applicable worldwide. In China, a CRC screening protocol that combines double fecal immunochemical tests (FITs) and a high-risk factor questionnaire (HRFQ) as the first stage of screening and colonoscopy as the second stage of screening (scenario A) was adapted by the Chinese Ministry of Health in 2006. However, applying this CRC screening protocol nationally remains difficult because its effectiveness and convenience are controversial. This study evaluated the effects of subitems of the CRC screening protocol in China. METHODS: CRC screening results (scenario A) from Jiashan County, China, (2007-2009) were used to analyze the detection rates of CRC and advanced neoplasms as well as the cost-effectiveness of the protocol. Scenario A was divided into scenarios B-G (by selecting some items at the first stage of screening) for analysis. RESULTS: Compared with scenario A, removing the whole HRFQ (scenario F) reduced advanced neoplasm and adenoma detections by 29.8 and 41.2%, respectively, whereas the whole HRFQ accounted for 10.1% of the total screening cost. Removing FITs (scenario G) reduced CRC, advanced neoplasm and adenoma detections by 71.8, 56.9 and 47.7%, respectively, and the costs per case of CRC and advanced neoplasm were 82.0 and 19.1% higher, respectively, than those in scenario A. In scenarios B-E (deleting some high-risk factor questions on the HRFQ), the odds ratios (ORs) of the detection rates and costs per CRC, advanced neoplasm, adenoma, and neoplasm case were near 1.00. Scenarios C and D reduced the high-risk population and total screening costs by less than 6.0 and 4.1%, respectively. Scenarios E and B (FITs and a personal history of cancer or colorectal adenoma were reserved) reduced the high-risk population by 17.6 and 24.2% and the total screening costs by 11.2 and 15.4%, respectively, while the numbers of CRC cases were not missed, and advanced neoplasms detected decreased by only 5 and 11%, respectively. CONCLUSION: The results of this study demonstrate that FITs and a personal history of colorectal adenoma are the most effective items in the Chinese CRC screening protocol.

Rhodohalobacter barkolensis sp. nov., isolated from a saline lake and emended description of the genus Rhodohalobacter.

A Gram-stain-negative, non-motile, aerobic, rod-shaped bacterium, designated 15182T, was isolated from a saline lake in China. The novel strain 15182T was able to grow at 10-40 °C (optimum, 37 °C), pH 7.0-8.0 (optimum, 7.5) and with 0.5-4 % NaCl (optimum, 2-3 %, w/v). The phylogenetic analysis based on 16S rRNA gene sequences revealed that strain 15182T was most closely related to the genus Rhodohalobacter by sharing the highest sequence similarity of 97.0 % with Rhodohalobacter halophilus JZ3C29T. Chemotaxonomic analysis showed that the sole respiratory quinone was menaquinone 7, the major fatty acids included C16 : 0 N alcohol and C16 : 1ω11c. The major polar lipids included diphosphatidylglycerol, phosphatidylglycerol, phosphatidylethanolamine, four uncharacterized glycolipids, one uncharacterized phospholipid and two uncharacterized lipids. The genomic DNA G+C content of the strain 15182T was 42.4 mol%. The average nucleotide identity value between 15182T and R. halophilus JZ3C29T was 75.4 %, and the in silico DNA-DNA hybridization value of the two strains was 19.1 %. On the basis of its phenotypic, chemotaxonomic, genotypic and genomic characteristics presented in this study, strain 15182T is suggested to represent a novel species in the genus Rhodohalobacter, for which the name Rhodohalobacter barkolensis sp. nov. is proposed. The type strain is 15182T (=KCTC 62172T=MCCC 1K03442T). An emended description of the genus Rhodohalobacter is also presented.

Cost-Effectiveness between Double and Single Fecal Immunochemical Test(s) in a Mass Colorectal Cancer Screening.

This study investigated the cost-effectiveness between double and single Fecal Immunochemical Test(s) (FIT) in a mass CRC screening. A two-stage sequential screening was conducted. FIT was used as a primary screening test and recommended twice by an interval of one week at the first screening stage. We defined the first-time FIT as FIT1 and the second-time FIT as FIT2. If either FIT1 or FIT2 was positive (+), then a colonoscopy was recommended at the second stage. Costs were recorded and analyzed. A total of 24,419 participants completed either FIT1 or FIT2. The detection rate of advanced neoplasm was 19.2% among both FIT1+ and FIT2+, especially high among men with age ≥55 (27.4%). About 15.4% CRC, 18.9% advanced neoplasm, and 29.9% adenoma missed by FIT1 were detected by FIT2 alone. Average cost was $2,935 for double FITs and $2,121 for FIT1 to detect each CRC and $901 for double FITs and $680 for FIT1 to detect each advanced neoplasm. Double FITs are overall more cost-effective, having significantly higher positive and detection rates with an acceptable higher cost, than single FIT. Double FITs should be encouraged for the first screening in a mass CRC screening, especially in economically and medically underserved populations/areas/countries.

[Age-specific detection rates of colorectal neoplasms by colonoscopic screening in high-incidence rural area].

OBJECTIVE: To compare the age-specific detection rates of colorectal neoplasms by colonoscopic screening among high-risk population in rural area and to provide evidence for determining the initial age in the colorectal cancer screening. METHODS: The age-specific detection rates of colorectal cancers and adenomas, and the proportion of detected cases in each age group after screening by the optimized sequential colorectal cancer screening program in Jiashan County, Zhejiang Province, were analyzed. RESULTS: Mass screening with the optimized sequential colorectal cancer screening program in Jiashan was conducted and 8867 colonoscopic examinations were performed. A total of 1811 individuals with at least one colorectal neoplastic lesion were found. Among them, there were 92 (1.04%) colorectal cancer patients, 1164 (13.13%) patients with at least one adenoma and 377 (4.25%) patients with at least one advanced adenoma. The detection rate of colorectal neoplastic lesions for the age group 40 - 44 was considerably lower than that in the age group 45 - 49. Hypothetically, to increase the initial age to 45-years for the optimized sequential colorectal cancer screening program would yield a 7.84% increase in the detection rate of total colorectal neoplastic lesions, 13.46% increase in the detection rate of colorectal cancer, 8.76% increase in the detection rate of adenoma, 12.24% increase in the detection rate of advanced adenoma and 19.64% lower in the cost of initial screening, 13.30% lower in the cost of colonoscopic screening. CONCLUSIONS: Among the high-risk population aged 40 to 74, the detection rates of colorectal cancer and adenoma are increasing with the increase of age, the detection rates of colorectal cancer and adenoma as well as proportion of detected cases in the 40 - 44 age group are considerably lower. To increase the initial age to 45 for colorectal cancer screening in rural area of China is reasonable.

Association of CASP9, CASP10 gene polymorphisms and tea drinking with colorectal cancer risk in the Han Chinese population.

The initiators caspase-9 (CASP9) and caspase-10 (CASP10) are two key controllers of apoptosis and play important roles in carcinogenesis. This study aims to explore the association between CASPs gene polymorphisms and colorectal cancer (CRC) susceptibility in a population-based study. A two-stage designed population-based case-control study was carried out, including a testing set with 300 cases and 296 controls and a validation set with 206 cases and 845 controls. A total of eight tag selected single nucleotide polymorphisms (SNPs) in CASP9 and CASP10 were chosen based on HapMap and the National Center of Biotechnology Information (NCBI) datasets and genotyped by restriction fragment length polymorphism (RFLP) assay. Multivariate logistic regression models were applied to evaluate the association of SNPs with CRC risk. In the first stage, from eight tag SNPs, three polymorphisms rs4646077 (odds ratio (OR)(AA+AG): 0.654, 95% confidence interval (CI): 0.406-1.055; P=0.082), rs4233532 (OR(CC): 1.667, 95% CI: 0.967-2.876; OR(CT): 1.435, 95% CI: 0.998-2.063; P=0.077), and rs2881930 (OR(CC): 0.263, 95% CI: 0.095-0.728, P=0.036) showed possible association with CRC risk. However, none of the three SNPs, rs4646077 (OR(AA+AG): 1.233, 95% CI: 0.903-1.683), rs4233532 (OR(CC): 0.892, 95% CI: 0.640-1.243; OR(CT): 1.134, 95% CI: 0.897-1.433), and rs2881930 (OR(CC): 1.096, 95% CI: 0.620-1.938; OR(CT): 1.009, 95% CI: 0.801-1.271), remained significant with CRC risk in the validation set, even after stratification for different tumor locations (colon or rectum). In addition, never tea drinking was associated with a significantly increased risk of CRC in testing set together with validation set (OR: 1.755, 95% CI: 1.319-2.334). Our results found that polymorphisms of CASP9 and CASP10 genes may not contribute to CRC risk in Chinese population and thereby the large-scale case-control studies might be in consideration. In addition, tea drinking was a protective factor for CRC.

[Association between H-ras and L-myc gene polymorphisms and susceptibility to colorectal cancer].

OBJECTIVE: To explore the association between the polymorphisms of oncogenes H-ras and L-myc and colorectal cancer risk, and the interaction of those genes. METHODS: The genotypes of H-ras and L-myc genes were determined by polymerase chain reaction-based restriction fragment length polymorphism analysis. Stratified analysis and logistic model were used to detect the gene-gene interaction. The gene-gene interaction was validated by multifactor dimensionality reduction (MDR) analysis. RESULTS: The single SNP model showed that the polymorphisms of H-ras and L-myc genes were not significantly related with colorectal cancer risk (P > 0.05). Stratified analysis revealed that among the L-myc LS + SS genotype carriers, those with H-ras TC + CC genotype showed significantly increased risk of rectal cancer than those with TT genotype (OR = 1.81, P = 0.005). The positive interaction between L-myc and H-ras was detected by logistic regression model. The OR of the interaction effect was 2.74 (P = 0.024). This result was confirmed in the MDR model, with 54.83% testing balanced accuracy and 10/10 cross-validation consistency, and the model was still significant after the 1000 times permutation test (P = 0.001). CONCLUSION: Our findings suggest that the polymorphism of H-ras and L-myc genes is not related to colorectal cancer risk, but there is a synergy between H-ras and L-myc polymorphisms in the development of rectal cancer.

[Primary evaluation of a mass screening program for colorectal tumor in China].

OBJECTIVE: To evaluate a colorectal cancer screening program by tumor detection rate and discussing its application values. METHOD: In total, 43 713 subjects were recruited in the screening program who were the registered people aged 40 - 74 in Xiacheng and Jiashan during year 2007 - 2009. The first screening involved questionnaire survey of colorectal cancer related risk factors and fecal occult blood test (FOBT), colonoscopy was performed when a positive result was observed in the first screening. If polyps were found during colonoscopy, biopsy and pathological diagnosis were carried out. The screening data were analyzed and the tumor detection rate was calculated according to age or sex. RESULTS: 6489 subjects (14.85%) belonged to the high risk group of colorectal cancer in the first screening, in which 4701 subjects finished complete colonoscopy. Finally, 569 colorectal neoplasm were diagnosed, the detection rate was 12.10% (95%CI: 11.17% - 13.04%). It included 52 colorectal cancer (1.11%, 95%CI: 0.81% - 1.41%), 183 advanced adenoma (3.89%, 95%CI: 3.34% - 4.45%), 334 non-advanced adenoma (7.10%, 95%CI: 6.37% - 7.84%). The highest detective rate was observed in male group that aged 70 - 74 (22.81%, 95%CI: 16.98% - 28.70%), the lowest detective rate was observed in female group aged 40 - 44 (2.49%, 95%CI: 0.79% - 4.20%). CONCLUSION: The current colorectal cancer screening program in China works well, but the revision of the program is necessary.

Performance of a colorectal cancer screening protocol in an economically and medically underserved population.

The performance of combining fecal immunochemical tests (FITs) and a high-risk factor questionnaire (HRFQ) in colorectal cancer (CRC) screening in economically and medically underserved populations is uncertain. This study investigated the performance of a CRC screening protocol of combining FITs and an HRFQ as primary screening methods in a rural Chinese population. A CRC mass screening was conducted using FITs and an HRFQ as the first and colonoscopy as the second stage of screening in Jiashan, 2007-2009. The target population was 31,963 residents in three communities. The compliance was 84.7% for HRFQ, 76.4% for FITs, and 78.7% for colonoscopy. The detected rates of cancer, adenoma, nonadenomatous polyps, and advanced neoplasm were 2.7%, 14.8%, 5.9%, and 8.9% by FITs, which were higher than those by HRFQ (0.5%, 9.2%, 4.8%, and 3.8%, respectively). There was no significant difference in detected rate for nonadenomatous polyps between FITs and HRFQ. A total of 41.2% adenomas, 53.2% nonadenomatous polyps, and 29.8% advanced neoplasms were detected by HRFQ but missed by FITs. Positive predictive value of the screening protocol of combining FITs and HRFQ for advanced neoplasm was 5.7%, which was higher than FITs alone. Men had a higher prevalence of advanced neoplasm than women. Results indicate that combining FITs and HRFQ as primary screening methods is an efficient CRC screening strategy in economically and medically underserved populations.

[Expression of caspase apoptosis pathway genes mRNA in colorectal cancer and polyps].

OBJECTIVE: To investigate mRNA expression of caspase apoptosis pathway genes in colorectal cancer, polyps and normal mucosa. METHODS: Nineteen patients with colorectal cancer, 86 patients with polyps and 10 normal controls were enrolled from 2008 to 2010. Fluorescence quantitative RT-PCR was performed to detect the mRNA expression of caspase apoptosis pathway genes (caspase-2,-3,-6,-7,-8,-9 and -10) in colorectal cancer, polyps and normal mucosa. RESULT: There were no statistically significant differences of demographic characteristics between patients with colorectal cancer, patients with polyps and normal controls. Compared with normal control group, the mRNA expression of all selected genes except for caspase-3 were lower; however, the P values did not reach statistic significance. Highly positive correlations were observed between mRNA expression of all selected genes except caspase-9. CONCLUSION: There are no significant changes in mRNA expression levels of caspase apoptosis pathway genes from normal mucosa to polyps to cancer. The mRNA expressions of most caspase pathway genes are highly correlated with each other.

[Association of XPC gene polymorphisms with breast cancer risk].

OBJECTIVE: To access the association of xeroderma pigmentosum group C (XPC) Lys939Gln (A/C) and Ala499Val (C/T) polymorphisms with breast cancer risk in a Chinese Han population. METHODS: 173 patients with breast cancer and 171 matched controls in terms of habitation and age (±5 years) were included in this population-based case-control study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was employed to genotyping the Lys939Gln and Ala499Val polymorphisms. Associations of genotypes of Lys939Gln and Ala499Val with breast cancer risk were evaluated using unconditional logistic regression model. Associations between XPC haplotypes and breast cancer risk were estimated by Haplo. Stats package. RESULT: No significant associations were observed both in individual SNPs and haplotype analyses. However, there was a significant interaction between XPC Lys939Gln polymorphism and menopausal status (P=0.032). CONCLUSION: The XPC Lys939Gln polymorphism may modulate breast cancer susceptibility jointly with the menopausal status.

[Association of CASP3 polymorphisms and its haplotypes with susceptibility of breast cancer].

OBJECTIVE: To investigate the association of Caspase3 (CASP3) polymorphisms with susceptibility of breast cancer in Chinese Han population. METHODS: In this population-based case-control study, 251 cases with breast cancers and 251 matched controls in terms of habitation and age (±5 years) were recruited. Rs4647693, rs2696056, rs4647610 were selected as TagSNPs in CASP3 gene and genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The haplotype distribution was estimated and compared by PHASE software. RESULT: There was significant association between menarche age and breast cancer (P=0.007), as well as the early pregnancy age and breast cancer (P=0.002). No significant differences were detected in the distribution of CASP3 genotype and haplotype frequencies between breast cancer patients and controls. The GGA was the most common haplotype both in cases and controls. CONCLUSION: CASP3 polymorphisms and its haplotypes were not related to the susceptibility of breast cancer.

[Association of miR-605 and miR-149 genetic polymorphisms with related risk factors of lung cancer susceptibility].

OBJECTIVE: To explore association of miR-149 and miR-605 polymorphisms with other risk factors of lung cancer susceptibility among Chinese population. METHODS: Two hundred and forty-four patients with lung cancer and 243 cancer-free controls matched by age and sex were enrolled from 2002 to 2008. Peripheral venous blood samples were collected from all subjects. Single nucleotide polymorphisms (SNPs) of miR-149 and miR-605 were genotyped by PCR-RFLP. Multiple-variable logistic regression model was used to assess the association of SNPs and cancer related risk factors for lung cancer. RESULT: There was not significant association of SNPs of miR-149 and miR-605 with lung cancer. A marginal significance was observed while the males with at least one G allele of miR-605 had higher risk of lung cancer (OR=1.5, 95% CI:1.0-2.3) than those with AA genotype. Increased frequency of smoking was associated with lung cancer risk. Compared with no-smoker, the subjects with <20 and >20 cigarettes/day had higher risk of lung cancer: OR (95%CI)=1.7(1.0-3.0) for <20 cigarettes, OR (95%CI)=4.2(2.3-7.6) for >20 cigarettes. There was no interaction between two genes and smoking on lung cancer. CONCLUSION: miR-149 polymorphisms may not affect lung cancer susceptibility. miR-605 gene mutant might be increase the risk of lung cancer among males. Cigarette smoking increased a risk of lung cancer, but there were not interactive effects between two gene and smoking on lung cancer.

[Optimization of sequential screening scheme in prevention of colorectal neoplasm].

OBJECTIVE: To improve early diagnosis rate and reduce the incidence rate of colorectal cancer, through the application of optimized sequential screening scheme for colorectal neoplasm in general population. METHODS: Quantitative risk assessment by questionnaires survey and fecal occult blood test (FOBT) were used to proceed preliminary screening among people aged 40 to 74. Electronic colonoscopy was applied to examine the whole colon and rectum among identified high-risk subjects. The detected cases received treatment for colorectal cancer, adenomatous polyps or non-adenomatous polyps. The early diagnosis rate and incidence rate of colorectal cancer were evaluated and compared with those before screening. RESULT: With application of optimized sequential screening schemes, various types of colorectal lesions were detected in 1 117 subjects, including 69 cases of colorectal cancer, 701 cases of colorectal adenoma and 211 cases of advanced adenoma. The early diagnosis rate of colorectal cancer was increased by 58.19%, and its incidence rate also decreased significantly. CONCLUSION: The optimized sequential screening scheme is simple, economical, efficient in colorectal cancer screening of general population.

[Association between HRE-2 gene polymorphism at codon 655 and genetic susceptibility of colorectal cancer].

OBJECTIVE: To explore the distribution of HER-2 genetic polymorphism at codon 655 and its association with susceptibility of colorectal cancer in Chinese. METHODS: A population-based case-control study was carried out. 292 patients with colorectal cancer and 842 healthy controls were interviewed. Meanwhile, the genetic polymorphism of HRE-2 was detected using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequencies of Ile/Val+Val/Val genotypes and Val allele were both higher in cases (25.34% and 13.36%) than those in controls (18.41% and 9.74%) (P<0.05). Compared with Ile/Ile genotype, Ile/Val+Val/Val genotypes were significantly associated with colorectal cancer [ORadjusted=1.54, 95% CI: 1.11-2.14]. The adjusted odds ratio of interactions between this polymorphism and smoking, alcohol drinking were 1.43 (95%CI: 0.88-2.30) and 1.29 (95%CI: 0.73-2.29), respectively. CONCLUSION: The present findings suggest that HER-2 genetic polymorphism at codon 655 may be associated with the risk of colorectal cancer in Chinese. In addition, there are no interactions between this polymorphism and smoking, alcohol drinking, respectively.

[Application of multifactor dimensionality reduction on the interactions between gene-gene, gene-environment and the risk sporadic colorectal cancer in Chinese population].

OBJECTIVE: To identify the association between risk of sporadic colorectal cancer and the common single nucleotide polymorphisms (SNPs) in DNA repairs genes, gene to gene interactions among them and their gene to environment interactions with common environmental factors. METHODS: In this population-based case-control study, 206 primary colorectal cancer cases and 845 cancer-free healthy controls were enrolled. Genotyping was carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, with the status of subjects case or controls unknown. Multifactor dimensionality reduction (MDR) and logistic analysis were both used for association analysis. RESULTS: As compared to the younger age group (> or = 42, < 61 years), the risk of colorectal cancer in older age group (> or = 61 years) increased significantly (OR = 2.04, 95% CI: 1.49-2.80). Similar result was observed in the family cancer history (OR = 1.51, 95% CI: 1.05-2.17). However, no significant association between any single DNA repair gene SNP and colorectal cancer risk was discovered. Results from MDR analysis only showed a significant interaction among the four following factors: age, alcohol drinking, XRCC1 Arg194Trp and OGG1 Ser326Cys (the cross-validation consistency = 10/10, the average testing accuracy = 0.616, P = 0.011). Using a logistic regression model, the "high-risk" individuals had a significantly elevated risk of colorectal cancer compared to those "low- risk" individuals classified by the above MDR model (OR = 2.72, 95% CI: 1.66-4.47). CONCLUSION: The impact of polymorphisms in DNA repair genes on the risk of sporadic colorectal cancer exhibited a low-penetrance characteristics while the intricate interactions existing among them and with environmental factors.

[Association of single nucleotide polymorphisms and haplotypes in DNA repair gene XRCC1 with susceptibility of breast cancer].

OBJECTIVE: To examine the contribution of the three most common single nucleotide polymorphisms (SNPs) in XRCC1 gene, C26304T, G27466A and G28152A, to susceptibility of breast cancer in Chinese Han population. METHODS: In this population-based case control study, 84 cases with breast cancer and 252 controls, matched to the cases in terms of habitation and age (5 years), were genotyped for the XRCC1 C26304T, G27466A and G28152A polymorphisms by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. The haplotype distribution was estimated and compared by EH linkage software 1. 2. RESULT: The distribution of basic characteristics, such as age, alcohol drinking, the family history of malignancy in first and second relatives except cigarette smoking, were not significantly different between cases and controls. However, the percentage of ever or current smokers was significantly higher in cases (7.1%) than that in controls (2.0%). The distributions of allelotype and genotype of C26304T, G27466A and G28152A polymorphisms were also not significantly different between cases and controls. There was no significant association between the risk of breast cancer and these three SNPs of XRCC1 gene. The genetic linkage disequilibrium existed in these three polymorphic sites both in cases and controls, in which the CGG, CGA, CAG and TGG haplotypes were the most common. There was also no significant association of XRCC1 haplotype with risk of breast cancer. CONCLUSION: XRCC1 C26304T, G27466A and G28152A SNPs may not be associated with the susceptibility of breast cancer. The CGG, CGA, CAG and TGG haplotypes might be the most common haplotypes in Chinese Han population.

The association of the DNA repair gene XRCC3 Thr241Met polymorphism with susceptibility to colorectal cancer in a Chinese population.

Growing evidence suggests that the Thr241Met (T241M) polymorphism in the homologous recombination repair gene XRCC3 may alter DNA repair capacity and subsequent susceptibility to carcinogens. In a few studies of colorectal cancer (CRC), however, the results have been discrepant. A population-based nested case-control study including 140 cases and 280 cancer-free controls was conducted to evaluate the effect of XRCC3 polymorphism, environmental exposure, and family history (FH) on the risk of CRC. The variant allele frequency was low among the ethnic Han Chinese, but we observed a significant difference between cases (6.07%) and controls (2.32%). The analytic results of the unconditional logistic regression model adjusted by age, sex, alcohol intake, cigarette smoking, and FH of cancer in first-degree relatives showed a significantly increased risk of CRC (adjusted odds ratio [OR] = 3.13, 95% confidence interval [CI]: 1.41-6.95, P = 0.005) as the T/M and M/M genotypes compared with the T/T genotype, which changed weakly in consideration of the subsite (adjusted OR = 4.80, 95%CI: 1.77-12.98, P = 0.002 in colon cancer, adjusted OR = 2.41, 95%CI: 0.93-6.25, P = 0.071 in rectal cancer, respectively). Combined with environmental factors such as alcohol intake and cigarette smoking, no significant interaction could be found. However, the results revealed a significant association between FH of cancer in first-degree relatives and the risk of CRC (adjusted OR = 2.24, 95%CI: 1.18-4.25, P = 0.014). These results also suggest that XRCC3 T241M polymorphism and FH of cancer may be risk factors for CRC, and the XRCC3 241Met allele may be an effective biomarker for genetic susceptibility to CRC. Larger studies are needed to confirm our findings and identify the underlying mechanisms.