https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45194 n = 294, 95–106 years; controls: n = 1105, 55–65 years) by assessing their polygenic risk scores (PRS) based on a genome wide association study (GWAS) threshold of p < 5 x 10⁻⁵. PRS were constructed using GWAS summary data from two exceptional longevity (EL) analyses and eight cardiovascular-related risk factors (lipids) and disease (myocardial infarction, coronary artery disease, stroke) analyses. A higher genetic risk for exceptional longevity (EL) was significantly associated with longevity in our sample (odds ratio (OR) = 1.19–1.20, p = 0.00804 and 0.00758, respectively). Two cardiovascular health PRS were nominally significant with longevity (HDL cholesterol, triglycerides), with higher PRS associated with EL, but these relationships did not survive correction for multiple testing. In conclusion, ELL individuals did not have significantly lower polygenic risk for the majority of the investigated cardiovascular health traits. Future work in larger cohorts is required to further explore the role of cardiovascular-related genetic variants in EL.]]> Wed 26 Oct 2022 14:27:30 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36902 Wed 23 Feb 2022 16:03:35 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30006 Wed 17 Nov 2021 16:29:49 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:16807 -9), and IKZF1 rs1110701 (OR 1.69, CI 1.42–2.02, p = 7.26 x 10^-9). There was evidence of gene-environment interaction for risk genotype at IKZF1, whereby an apparently stronger genetic effect was observed if the mother took folic acid or if the father did not smoke prior to pregnancy (respective interaction P-values: 0.04, 0.05). There were no interactions of risk genotypes with age or sex (P-values >0.2). Our results evidence that interaction of genetic variants and environmental exposures may further alter risk of childhood ALL however, investigation in a larger population is required. If interaction of folic acid supplementation and IKZF1 variants holds, it may be useful to quantify folate levels prior to initiating use of folic acid supplements.]]> Wed 11 Apr 2018 16:52:33 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14804 Wed 11 Apr 2018 14:46:12 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:16788 55 years of age). Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients. Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC.]]> Wed 11 Apr 2018 14:30:00 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14417 Wed 11 Apr 2018 11:44:21 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33933 Wed 06 Apr 2022 14:02:47 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30955 Wed 02 Oct 2019 10:21:46 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31943 P = 0.0012). Comparison (2) demonstrated a moderate difference with centre 2 plans producing slightly lower rectal doses (P = 0.013). Comparison (3) further demonstrated that Rectafix returned lower mean doses than SpaceOAR (P < 0.001). Although all dose levels were in favour of Rectafix, in absolute terms differences were small (2.6-9.0%). Conclusions: In well-selected prostate SBRT patients, Rectafix and SpaceOAR RDD's provide approximately equivalent rectal sparing.]]> Wed 02 Mar 2022 14:25:36 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47648 Tue 24 Jan 2023 14:51:37 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44624 P<.0001; with adjustment for infant sex and maternal body mass index). Indigenous mean birthweight percentile was 4.2 units lower (P<.0001). Adjustment for maternal age, smoking, body mass index, and infant sex reduced the difference in birthweight/percentiles to nonsignificance (12 g; P=.07). Conclusion: Disparities exist between indigenous and non-indigenous Australian infants for birthweight, birthweight percentile, and adverse outcome rates. Adjustment for smoking and maternal age removed any significant difference in birthweights and birthweight percentiles for indigenous infants. Our data indicate that birthweight percentiles should not be adjusted for indigenous ethnicity because this normalizes disadvantage; because White and indigenous Australians have diverged for approximately 50,000 years, it is likely that the same conclusions apply to other ethnic groups. The disparities in birthweight percentiles that are associated with smoking will likely perpetuate indigenous disadvantage into the future because low birthweight is linked to the development of chronic noncommunicable disease and poorer educational attainment; similar problems may affect other indigenous populations.]]> Tue 18 Oct 2022 11:09:49 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46365 Tue 15 Nov 2022 15:16:05 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38090 telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS. We combined genotype data from 1881 LS patients, carrying pathogenic variants in MLH1, MSH2 or MSH6, for rs2075786 (G>A, intronic variant), 1207 LS patients for rs2736108 (C>T, upstream variant) and 1201 LS patients for rs7705526 (C>A, intronic variant). The risk of cancer was estimated by heterozygous/homozygous odds ratio (OR) with mixed-effects logistic regression to adjust for gene/gender/country of sample origin considering family identity. The AA genotype of SNP rs2075786 is associated with 85% higher odds at developing cancer compared to GG genotype in MSH2 pathogenic variant carriers (p = 0.0160). Kaplan–Meier analysis also shows an association for rs2075786; the AA allele for MSH2 variant carriers confers risk for earlier diagnosis of LS cancer (log-rank p = 0.0011). We report a polymorphism in TERT to be a possible modifier of disease risk in MSH2 pathogenic variant carriers. The rs2075786 SNP in TERT is associated with a differential risk of developing cancer for MSH2 pathogenic variant carriers. Use of this information has the potential to personalise screening protocols for LS patients.]]> Tue 03 Aug 2021 19:10:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:35858 Thu 21 Oct 2021 12:45:46 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38679 Thu 16 Dec 2021 10:43:19 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47210 Thu 15 Dec 2022 17:18:38 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39920 Thu 11 Aug 2022 14:36:04 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36636 Thu 09 Dec 2021 11:03:23 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36923 Thu 06 Aug 2020 09:11:58 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:35828 Thu 03 Feb 2022 12:20:23 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13951 Sat 24 Mar 2018 10:41:26 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:7033 Sat 24 Mar 2018 08:37:51 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14315 Sat 24 Mar 2018 08:24:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:17373 Sat 24 Mar 2018 08:01:32 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23064 combined=3.32 x 10(^-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.]]> Sat 24 Mar 2018 07:12:28 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23143 Sat 24 Mar 2018 07:10:33 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52847 Mon 30 Oct 2023 09:54:38 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32077 0.05). Global DNA methylation levels in males were significantly higher than in females (median %5-mC: 1.82 vs. 1.03, males and females respectively, (P < 0.05)). Conclusion: No association was found between the intake of one-carbon metabolism nutrients during the early postnatal period and global DNA methylation levels at age four years. Higher global DNA methylation levels in males warrants further investigation.]]> Mon 23 Sep 2019 11:18:49 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47515 Mon 23 Jan 2023 12:15:30 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49541 Mon 22 May 2023 08:45:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46178 Mon 14 Nov 2022 15:55:52 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33670 Mon 01 Jul 2019 09:50:58 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38827 p < 0.047), whereas the measure of executive functioning was uniquely accounted for by the presence of hypertension and angina (all p < 0.032). Increased stroke risk also predicted performance on the cognitive screening test and the measure of executive functioning (all p < 0.002). Conclusions: Our findings indicate that cognitive impairment following a minor stroke or TIA may be attributed to the high prevalence of chronic vascular risk factors in these patients. This highlights the importance of long-term management of vascular risk factors beyond event recovery to reduce the risk of cognitive impairment. Increased stroke risk (i.e., ABCD2 score) was also associated with reduced cognition, suggesting that it may be helpful in signaling the need for further cognitive evaluation and intervention post-event.]]> Fri 20 May 2022 12:40:50 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42289 Fri 19 Aug 2022 14:58:23 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40011 p > .05), though the estimates of effect were consistently negative. Global DNA methylation levels in males were significantly higher than in females (median %5mC: 1.82 vs. 1.03, males and females, respectively, (p < .05)). Conclusion: No association was found between global DNA methylation and child cognition and behavior; however given the small sample, this study should be pooled with other cohorts in future meta-analyses.]]> Fri 15 Jul 2022 10:09:55 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49427 Fri 12 May 2023 15:16:07 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30002 Fri 10 Mar 2023 19:02:11 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36851 Fri 10 Jul 2020 11:32:44 AEST ]]>