https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Immune checkpoint blockade in solid organ tumours: choice, dose and predictors of response https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:39903 Wed 22 Mar 2023 10:31:41 AEDT ]]> Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24220 A and −174 G>C) correlate with MS susceptibility, but with varying results. In the present study, we analyzed these polymorphisms, together with an additional polymorphism (−572 G>C) in 279 healthy controls and 509 patients with MS. We found no significant differences between MS patients and healthy controls for the different −597 or −174 IL6 promoter alleles or genotypes. There was a slight reduction in the percentage of individuals with MS who carried a C allele at position −572, although this was not significant after correction for multiple comparisons. Interestingly, however, the −572 C allele showed a significant correlation with the MS severity score, suggesting a possible role in disease progression.]]> Wed 11 Apr 2018 15:18:27 AEST ]]> Serotonin toxicity from antidepressant overdose and its association with the T102C polymorphism of the 5-HT₂A receptor https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14550 Wed 11 Apr 2018 12:16:41 AEST ]]> The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4378 A, causes overexpression and supports uncontrollable cellular growth. This polymorphism has been associated with an increased risk of developing many cancers, including endometrial cancer. Methods: The 870 G>A polymorphisms (rs605965) in the cyclin D1 gene was genotyped in an Australian endometrial cancer case-control population including 191 cases and 291 controls using real-time PCR analysis. Genotype analysis was performed using chi-squared (χ²) statistics and odds ratios were calculated using unconditional logistic regression, adjusting for potential endometrial cancer risk factors. Results: Women homozygous for the variant cyclin D1 870 AA genotype showed a trend for an increased risk of developing endometrial cancer compared to those with the wild-type GG genotype, however this result was not statistically significant (OR 1.692 95% CI (0.939-3.049), p = 0.080). Moreover, the 870 G>A polymorphism was significantly associated with family history of colorectal cancer. Endometrial cancer patients with the homozygous variant AA genotype had a higher frequency of family members with colorectal cancer in comparison to endometrial cancer patients with the GG and combination of GG and GA genotypes (GG versus AA; OR 2.951, 95% CI (1.026-8.491), p = 0.045, and GG+GA versus AA; OR 2.265, 95% CI (1.048-4.894), p = 0.038, respectively). Conclusion: These results suggest that the cyclin D1 870 G>A polymorphism is possibly involved in the development of endometrial cancer. A more complex relationship was observed between this polymorphism and familial colorectal cancer.]]> Wed 11 Apr 2018 10:44:26 AEST ]]> Relationships between selected sweet and bitter-taste receptors and features of oral health https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53026 Wed 06 Mar 2024 15:14:08 AEDT ]]> Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45604 Wed 02 Nov 2022 14:06:59 AEDT ]]> Towards Genotype-Specific Care for Chronic Hepatitis B: The First 6 Years Follow Up From the CHARM Cohort Study https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49739 Tue 30 May 2023 14:27:00 AEST ]]> Systematic review of genetic risk factors for sustaining a mild traumatic brain injury https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33129 Tue 28 Aug 2018 12:56:53 AEST ]]> Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:375 Thu 25 Jul 2013 09:10:05 AEST ]]> Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19188 Sat 24 Mar 2018 07:55:01 AEDT ]]> Effect modification by transferrin C2 polymorphism on lead exposure, hemoglobin levels, and IQ https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19747 transferrin (TF) C2 polymorphism modifies the effects of lead and hemoglobin on intelligence. Methods: Children aged 3–7 years (N = 708) were enrolled from 12 primary schools in Chennai, India. The Binet–Kamath Scale of Intelligence were administered to ascertain intelligence quotient (IQ). Venous blood was analyzed for lead and hemoglobin levels. Genotyping for the TF C2 polymorphism (rs1049296) was carried out using a MassARRAY iPLEXTM platform. Stratified analyses and interaction models, using generalized estimating equations, were examined to explore interactions between lead, hemoglobin, and TF C2 categories. Results: A one-unit increase in log blood lead and 1 g/dl higher hemoglobin was associated with −77 (95% CI: −136, −18) and 17 (95% CI 14, 21) IQ points, respectively, among children carrying the C2 variant. In comparison, among children who had the homozygous wildtype allele, the same increment of lead and hemoglobin were associated with −21(95% CI: −65, 24) and 28 (95% CI: 15, 40) IQ points, respectively. There was a significant interaction between lead (p = 0.04) and hemoglobin (p = 0.07) with the C2 variant. Conclusion: Children who carry the TF C2 variant may be more susceptible to the neurotoxic effects of lead exposure and less protected by higher levels of hemoglobin.]]> Sat 24 Mar 2018 07:53:41 AEDT ]]> Clinical perspectives on hereditary hemochromatosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5556 Sat 24 Mar 2018 07:49:12 AEDT ]]> Emergence of endemic MLST non-typeable vancomycin-resistant Enterococcus faecium https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25808 Enterococcus faecium is a major nosocomial pathogen causing significant morbidity and mortality worldwide. Assessment of E. faecium using MLST to understand the spread of this organism is an important component of hospital infection control measures. Recent studies, however, suggest that MLST might be inadequate for E. faecium surveillance. Objectives: To use WGS to characterize recently identified vancomycin-resistant E. faecium (VREfm) isolates non-typeable by MLST that appear to be causing a multi-jurisdictional outbreak in Australia. Methods: Illumina NextSeq and Pacific Biosciences SMRT sequencing platforms were used to determine the genome sequences of 66 non-typeable E. faecium (NTEfm) isolates. Phylogenetic and bioinformatics analyses were subsequently performed using a number of in silico tools. Results: Sixty-six E. faecium isolates were identified by WGS from multiple health jurisdictions in Australia that could not be typed by MLST due to a missing pstS allele. SMRT sequencing and complete genome assembly revealed a large chromosomal rearrangement in representative strain DMG1500801, which likely facilitated the deletion of the pstS region. Phylogenomic analysis of this population suggests that deletion of pstS within E. faecium has arisen independently on at least three occasions. Importantly, the majority of these isolates displayed a vancomycin-resistant genotype. Conclusions: We have identified NTEfm isolates that appear to be causing a multi-jurisdictional outbreak in Australia. Identification of these isolates has important implications for MLST-based typing activities designed to monitor the spread of VREfm and provides further evidence supporting the use of WGS for hospital surveillance of E. faecium.]]> Sat 24 Mar 2018 07:34:38 AEDT ]]> TCF4 gene polymorphism is associated with cognition in patients with schizophrenia and healthy controls https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22607 2 = 3.48, p = 0.062 and X2 = 0.036, p = 0.036, respectively). Cognitive test scores were significantly lower in patients than in controls on all scales (all p < 0.001) except for the visuospatial/constructional index (p > 0.05). There were significant genotype effects on delayed memory score (p = 0.013), the RBANS total score (p = 0.028) and language score (p = 0.034). Further analysis showed that the language score significantly differed according to the genotypic groups (A/A+T/A group versus T/T group) (p = 0.007) in patients but not in controls (p > 0.05), and the delayed memory score also significantly differed according to the genotypic groups (A/A+T/A group versus T/T group) (p = 0.021) in controls but not in patients (p > 0.05). Conclusions: This study found that the A allele of the TCF4 rs2958182 polymorphism was the risk allele of schizophrenia, and was associated with lower cognitive performance in language in schizophrenia and delayed memory in controls. In contrast, the T allele of this polymorphism was found to be the schizophrenia risk allele in another study in Han Chinese people.]]> Sat 24 Mar 2018 07:16:05 AEDT ]]> A functional polymorphism in the interleukin-1beta and severity of nicotine dependence in male schizophrenia: a case-control study https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22863 IL-1beta-511C/T polymorphism and smoking behavior in schizophrenia versus healthy controls in a Chinese population. The IL-1beta-511C/T polymorphism was genotyped in 638 male patients with chronic schizophrenia (smoker/never-smoker=486/152) and 469 male controls (smoker/never-smoker=243/226). The cigarettes smoked per day, the Heaviness of Smoking Index (HSI) and the Fagerstrom Test for nicotine dependence (FTND) were assessed. Patients were also rated on the Positive and Negative Syndrome Scale (PANSS). The results showed no significant differences in genotype and allele distribution between patients and controls, and between smokers and never-smokers in either the patient or control group. However, in patients, smokers with the C/C genotype had significantly higher HSI (p<0.005) and FTND (p<0.05) scores than smokers with the T/T genotype, without significant differences in controls. Furthermore, there was a linear positive correlation between the number of C alleles and the HSI (p<0.005) in patients. Our findings suggest that the IL-1beta-511C/T polymorphism may not be related to schizophrenia or smoking status in Chinese individuals, but may affect the severity of nicotine dependence among male smokers with schizophrenia.]]> Sat 24 Mar 2018 07:16:01 AEDT ]]> Polymorphisms of 5-HTT LPR and GNβ3 825C>T and response to antidepressant treatment in functional dyspepsia: a study from the functional dyspepsia treatment trial https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:34107 T CC genotype has been previously linked to FD and TT genotype to antidepressant response in depression. The ss genotype of the 5-HTT LPR variant of the serotonin transporter gene (SLC6A4) has been linked to selective serotonin reuptake inhibitor (SSRI) response. We aimed to examine whether GNβ3 825C>T and 5-HTT LPR polymorphisms result in differential treatment effects in FD patients receiving antidepressant therapy. Methods: Participants were randomized to receive placebo, 50 mg AMI, or 10 mg escitalopram (ESC). The primary end point was adequate relief for ≥5 weeks of the last 10 weeks. Genotyping of GNβ3 825C>T and 5-HTT LPR was performed utilizing PCR-based methods. Results: GNβ3 825C>T and 5-HTT LPR genotype data were available for 256 (88%) and 246 (84%) patients, respectively. Both polymorphisms were in Hardy-Weinberg equilibrium. In tests for differential treatment, neither 5-HTT LPR nor GNβ3 825C>T genotype influenced response to therapy (P=0.89 and P=0.54, respectively). Although there was a tendency for a more favorable response to ESC in the SS/LS genotype compared to the LL genotype groups (40% vs. 31% reporting adequate relief of FD symptoms) among those in the ESC treatment arm, this was not significant (P=0.43). Conclusions: GNβ3 825C>T and 5-HTT LPR genetic variants do not alter treatment response to tricyclic and SSRI antidepressants in FD.]]> Fri 08 Feb 2019 10:43:58 AEDT ]]>