ORCID Profile
0000-0002-3361-8638
Current Organisations
University of Southampton
,
Universität Hamburg
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Publisher: BMJ
Date: 05-05-2016
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 05-2009
Publisher: Springer Science and Business Media LLC
Date: 19-10-2015
Publisher: Springer Science and Business Media LLC
Date: 08-01-2018
Publisher: Springer Science and Business Media LLC
Date: 18-12-2017
Publisher: Springer Science and Business Media LLC
Date: 06-03-2019
DOI: 10.1038/S41380-019-0388-2
Abstract: Autosomal variants have successfully been associated with trait neuroticism in genome-wide analysis of adequately powered s les. But such studies have so far excluded the X chromosome from analysis. Here, we report genetic association analyses of X chromosome and XY pseudoautosomal single nucleotide polymorphisms (SNPs) and trait neuroticism using UK Biobank s les ( N = 405,274). Significant association was found with neuroticism on the X chromosome for 204 markers found within three independent loci (a further 783 were suggestive). Most of the lead neuroticism-related X chromosome variants were located in intergenic regions ( n = 397). Involvement of HS6ST2 , which has been previously associated with sociability behaviour in the dog, was supported by single SNP and gene-based tests. We found that the amino acid and nucleotide sequences are highly conserved between dogs and humans. From the suggestive X chromosome variants, there were 19 nearby genes which could be linked to gene ontology information. Molecular function was primarily related to binding and catalytic activity notable biological processes were cellular and metabolic, and nucleic acid binding and transcription factor protein classes were most commonly involved. X-variant heritability of neuroticism was estimated at 0.22% (SE = 0.05) from a full dosage compensation model. A polygenic X-variant score created in an independent s le (maximum N ≈ 7,300) did not predict significant variance in neuroticism, psychological distress, or depressive disorder. We conclude that the X chromosome harbours significant variants influencing neuroticism, and might prove important for other quantitative traits and complex disorders.
Publisher: American Physical Society (APS)
Date: 09-09-2021
Publisher: Springer Science and Business Media LLC
Date: 06-06-2019
DOI: 10.1038/S41398-019-0498-2
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Publisher: Springer Science and Business Media LLC
Date: 29-05-2018
DOI: 10.1038/S41467-018-04362-X
Abstract: General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486 age 16–102) and find 148 genome-wide significant independent loci ( P 5 × 10 −8 ) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent s les. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
Publisher: Springer Science and Business Media LLC
Date: 26-01-2016
DOI: 10.1038/MP.2015.225
Publisher: Springer Science and Business Media LLC
Date: 11-01-2018
Publisher: Scandinavian Journal of Work, Environment and Health
Date: 04-01-2017
DOI: 10.5271/SJWEH.3618
Publisher: BMJ
Date: 06-01-2017
Publisher: Springer Science and Business Media LLC
Date: 18-05-2018
DOI: 10.1038/S41398-018-0150-6
Abstract: Alzheimer’s disease (AD) is a public health priority for the 21st century. Risk reduction currently revolves around lifestyle changes with much research trying to elucidate the biological underpinnings. We show that self-report of parental history of Alzheimer’s dementia for case ascertainment in a genome-wide association study of 314,278 participants from UK Biobank (27,696 maternal cases, 14,338 paternal cases) is a valid proxy for an AD genetic study. After meta-analysing with published consortium data ( n = 74,046 with 25,580 cases across the discovery and replication analyses), three new AD-associated loci ( P 5 × 10 −8 ) are identified. These contain genes relevant for AD and neurodegeneration: ADAM10 , BCKDK/KAT8 and ACE . Novel gene-based loci include drug targets such as VKORC1 (warfarin dose). We report evidence that the association of SNPs in the TOMM40 gene with AD is potentially mediated by both gene expression and DNA methylation in the prefrontal cortex. However, it is likely that multiple variants are affecting the trait and gene methylation/expression. Our discovered loci may help to elucidate the biological mechanisms underlying AD and, as they contain genes that are drug targets for other diseases and disorders, warrant further exploration for potential precision medicine applications.
Publisher: Proceedings of the National Academy of Sciences
Date: 31-10-2016
Abstract: In iduals with more education tend to live longer. Genetic variants have been discovered that predict educational attainment. We tested whether a “polygenic score” based on these genetic variants could make predictions about people’s lifespan. We used data from three cohort studies (including ,000 participants) to examine the link between offspring polygenic score for education and parental longevity. Across the studies, we found that participants with more education-linked genetic variants had longer-living parents compared with those with the lowest genetic education scores, those with the highest scores had parents who lived on average 6 months longer. This finding suggests the hypothesis that part of the ultimate explanation for the extended longevity of better-educated people is an underlying, quantifiable, genetic propensity.
Publisher: Springer Science and Business Media LLC
Date: 03-08-2018
Publisher: Cambridge University Press (CUP)
Date: 11-2009
Publisher: American Medical Association (AMA)
Date: 26-04-2010
DOI: 10.1001/ARCHINTERNMED.2010.76
Abstract: Physical activity, diet, smoking, and alcohol consumption have been shown to be related to mortality. We examined prospectively the in idual and combined influence of these risk factors on total and cause-specific mortality. The prospective cohort study included 4886 in iduals at least 18 years old from a United Kingdom-wide population in 1984 to 1985. A health behavior score was calculated, allocating 1 point for each poor behavior: smoking fruits and vegetables consumed less than 3 times daily less than 2 hours physical activity per week and weekly consumption of more than 14 units of alcohol (in women) and more than 21 units (in men) (range of points, 0-4). We examined the relationship between health behaviors and mortality using Cox models and compared it with the mortality risk associated with aging. During a mean follow-up period of 20 years, 1080 participants died, 431 from cardiovascular diseases, 318 from cancer, and 331 from other causes. Adjusted hazard ratios and 95% confidence intervals (CIs) for total mortality associated with 1, 2, 3, and 4 poor health behaviors compared with those with none were 1.85 (95% CI, 1.28-2.68), 2.23 (95% CI, 1.55-3.20), 2.76 (95% CI, 1.91-3.99), and 3.49 (95% CI, 2.31-5.26), respectively (P value for trend, <.001). The effect of combined health behaviors was strongest for other deaths and weakest for cancer mortality. Those with 4 compared with those with no poor health behaviors had an all-cause mortality risk equivalent to being 12 years older. The combined effect of poor health behaviors on mortality was substantial, indicating that modest, but sustained, improvements to diet and lifestyle could have significant public health benefits.
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Catharine Gale.