Opportunities and challenges in establishing a cohort study: an example from cleft lip/palate research in the United Kingdom

NM Stock, K Humphries, BS Pourcain… - The Cleft Palate …, 2016 - journals.sagepub.com
Background Cleft lip and/or palate (CL/P) is one of the most common birth conditions in the
world, but little is known about its causes. Professional opinion remains divided as to which …

Genome-wide association study identifies 74 loci associated with educational attainment

…, KE Schraut, J Shi, AV Smith, RA Poot, B St Pourcain… - Nature, 2016 - nature.com
Educational attainment is strongly influenced by social and other environmental factors, but
genetic factors are estimated to account for at least 20% of the variation across individuals 1. …

[PDF][PDF] Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

…, E Saemundsen, SJ Sanders, S Sandin, B St Pourcain… - Cell, 2019 - cell.com
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Identification of common genetic risk variants for autism spectrum disorder

…, MG Pedersen, T Dpoterba, JB Poulsen, BS Pourcain… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and …

…, BS Pourcain… - …, 2017 - academic.oup.com
Motivation LD score regression is a reliable and efficient method of using genome-wide
association study (GWAS) summary-level results data to estimate the SNP heritability of complex …

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

…, M Perola, NJ Timpson, DM Evans, BS Pourcain… - Nature …, 2012 - nature.com
Through genome-wide association meta-analyses of up to 133,010 individuals of European
ancestry without diabetes, including individuals newly genotyped using the Metabochip, we …

[HTML][HTML] Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

…, PP Pramstaller, DM Evans, B St. Pourcain… - PLoS …, 2012 - journals.plos.org
Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are
highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other …

[HTML][HTML] Time outdoors and physical activity as predictors of incident myopia in childhood: a prospective cohort study

…, K Deere, C Mattocks, B St Pourcain… - … & visual science, 2012 - iovs.arvojournals.org
Purpose.: Timespent in “sports/outdoor activity” has shown a negative association with incident
myopia during childhood. We investigated the association of incident myopia with time …

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

…, GHS Buitendijk, G McMahon, JP Kemp, BS Pourcain… - Nature …, 2013 - nature.com
Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

EB Robinson, B St Pourcain, V Anttila, JA Kosmicki… - Nature …, 2016 - nature.com
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the
general population, but the effects of this risk are unclear in people not ascertained for …