https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Associations of autozygosity with a broad range of human phenotypes https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45256 1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.]]> Wed 26 Oct 2022 20:06:39 AEDT ]]> Transcriptome-wide association study of breast cancer risk by estrogen-receptor status https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42701 Wed 22 Mar 2023 15:07:38 AEDT ]]> Genome-wide association study of germline variants and breast cancer-specific mortality https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47795 Tue 31 Jan 2023 15:32:49 AEDT ]]> Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46467 P < 5 × 10−8) were identified as instrumental variables, and assessed using genome-wide association study data from the Endometrial Cancer Association Consortium (12 906 cases and 108 979 controls) and the Global Lipids Genetic Consortium (n = 188 578). Mendelian randomization analyses found genetically raised LDL cholesterol levels to be associated with lower risks of endometrial cancer of all histologies combined, and of endometrioid and non-endometrioid subtypes. Conversely, higher genetically predicted HDL cholesterol levels were associated with increased risk of non-endometrioid endometrial cancer. After accounting for the potential confounding role of obesity (as measured by genetic variants associated with body mass index), the association between genetically predicted increased LDL cholesterol levels and lower endometrial cancer risk remained significant, especially for non-endometrioid endometrial cancer. There was no evidence to support a role for triglycerides in endometrial cancer development. Our study supports a role for LDL and HDL cholesterol in the development of non-endometrioid endometrial cancer. Further studies are required to understand the mechanisms underlying these findings.]]> Tue 19 Sep 2023 15:34:26 AEST ]]> Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:54872 Tue 19 Mar 2024 16:38:34 AEDT ]]> Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:48335 Tue 14 Mar 2023 17:16:01 AEDT ]]> RAD51B in familial breast cancer https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50033 T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.]]> Thu 29 Jun 2023 13:56:37 AEST ]]> Two truncating variants in FANCC and breast cancer risk https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45124 Thu 27 Oct 2022 10:53:06 AEDT ]]> CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49307 Thu 11 May 2023 14:39:42 AEST ]]> Polygenic risk scores for prediction of breast cancer and breast cancer subtypes https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46914 Thu 08 Dec 2022 08:47:20 AEDT ]]> Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44579 Mon 17 Oct 2022 14:17:20 AEDT ]]>