Fay J. Hosking

St George's, University of London

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Richard S. Houlston

Institute of Cancer Research

Sara E. Dobbins

Nationwide Children's Hospital

Stephen DeWilde

St George's, University of London

Tess Harris

St George's, University of London

Iain M. Carey

St George's, University of London

Melissa L. Bondy

Stanford University

Derek G. Cook

St George's, University of London

Sanjay Shete

The University of Texas MD Anderson Cancer Center

Anthony J. Swerdlow

Institute of Cancer Research

Kari Hemminki

Heidelberg University

Cooperative Institutions

Institute of Cancer Research

128

Baylor College of Medicine

102

University of Southern California

Children's Cancer Center

Brigham and Women's Hospital

Memorial Sloan Kettering Cancer Center

Yale University

Danish Cancer Society

The University of Texas MD Anderson Cancer Center

University of California, San Francisco

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‘I’m sure we made it a better study…’: Experiences of adults with intellectual disabilities and parent carers of patient and public involvement in a health research study

Journal of Intellectual Disabilities (2017)

Carole Beighton Christina Victor Iain M. Carey Fay J. Hosking Stephen DeWilde

Patient and public involvement is considered integral to health research in the United Kingdom; however, studies documenting the involvement of adults with intellectual disabilities and parent carers in health research studies are scarce. Through group interviews, this study explored the perspectives and experiences of a group of adults with intellectual disabilities and a group of parent carers about their collaborative/participatory involvement in a 3-year study which explored the effectiveness of annual health checks for adults with intellectual disabilities. Thematic analysis identified five key themes consistent across both groups; authenticity of participation, working together, generating new outcome measures, dissemination of findings and involvement in future research. Although reported anecdotally rather than originating from the analysis, increased self-confidence is also discussed. The groups’ unique perspectives led to insights not previously considered by the research team which led to important recommendations to inform healthcare practice.

Thematic Analysis

10.1177/1744629517723485

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Citations (51)

Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222

British Journal of Cancer (2013)

Victor Enciso-Mora Fay J. Hosking Anna Luisa Di Stefano Diana Zélénika Sanjay Shete

Most of the heritable risk of glioma is presently unaccounted for by mutations in known genes. In addition to rare inactivating germline mutations in TP53 causing glioma in the context of the Li-Fraumeni syndrome, polymorphic variation in TP53 may also contribute to the risk of developing glioma. To comprehensively evaluate the impact of variation in TP53 on risk, we analysed 23 tagSNPs and imputed 2377 unobserved genotypes in four series totaling 4147 glioma cases and 7435 controls. The strongest validated association signal was shown by the imputed single-nucleotide polymorphism (SNP) rs78378222 (P=6.86 × 10−24, minor allele frequency ∼0.013). Confirmatory genotyping confirmed the high quality of the imputation. The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours. We comprehensively examined the relationship between rs78378222 and overall survival in two of the case series totaling 1699 individuals. Despite employing statistical tests sensitive to the detection of differences in early survival, no association was shown. Our data provided strong validation of rs78378222 as a risk factor for glioma but do not support the tenet that the polymorphism being a clinically useful prognostic marker. Acquired TP53 inactivation is a common feature of glioma. As rs78378222 changes the polyadenylation signal of TP53 leading to impaired 3′-end processing of TP53 mRNA, the SNP has strong plausibility for being directly functional contributing to the aetiological basis of glioma.

SNP

Genome-wide Association Study

Penetrance

Minor allele frequency

10.1038/bjc.2013.155

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Citations (58)

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

Human Molecular Genetics (2013)

Nicola Whiffin Sara E. Dobbins Fay J. Hosking Claire Palles Albert Tenesa

Recent genome-wide association studies (GWASs) have identified common variants at 16 autosomal regions influencing the risk of developing colorectal cancer (CRC). To decipher the genetic basis of the association signals at these loci, we performed a meta-analysis of data from five GWASs, totalling 5626 cases and 7817 controls, using imputation to recover un-typed genotypes. To enhance our ability to discover low-frequency risk variants, in addition to using 1000 Genomes Project data as a reference panel, we made use of high-coverage sequencing data on 253 individuals, 199 with early-onset familial CRC. For 13 of the regions, it was possible to refine the association signal identifying a smaller region of interest likely to harbour the functional variant. Our analysis did not provide evidence that any of the associations at the 16 loci being a consequence of synthetic associations rather than linkage disequilibrium with a common risk variant.

Linkage Disequilibrium

Imputation (statistics)

Genome-wide Association Study

Genetic Association

Penetrance

Genetic architecture

10.1093/hmg/ddt357

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Citations (21)

Chromosome 7p11.2 (EGFR) variation influences glioma risk

Human Molecular Genetics (2011)

Marc Sanson Fay J. Hosking Sanjay Shete Diana Zélénika Sara E. Dobbins

While gliomas are the most common primary brain tumors, their etiology is largely unknown. To identify novel risk loci for glioma, we conducted genome-wide association (GWA) analysis of two case–control series from France and Germany (2269 cases and 2500 controls). Pooling these data with previously reported UK and US GWA studies provided data on 4147 glioma cases and 7435 controls genotyped for 424 460 common tagging single-nucleotide polymorphisms. Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, Pc = 7.72 × 10−8 and 2.09 × 10−8, respectively). Both associations were independent of tumor subtype, and were independent of EGFR amplification, p16INK4a deletion and IDH1 mutation status in tumors; compatible with driver effects of the variants on glioma development. These findings show that variation in 7p11.2 is a determinant of inherited glioma risk.

Genome-wide Association Study

10.1093/hmg/ddr192

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Citations (161)

Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia

Leukemia (2012)

Victor Enciso-Mora Fay J. Hosking Eamonn Sheridan Sally E. Kinsey J. Timothy Lightfoot

Genome-wide Association Study

Genetic Association

10.1038/leu.2012.89

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Citations (43)

Inherited genetic susceptibility to monoclonal gammopathy of unknown significance

Blood (2014)

Niels Weinhold David C. Johnson Andy C. Rawstron Asta Försti Chi Doughty

Genetic predisposition

10.1182/blood-2013-10-532283

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Citations (39)

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

Human Molecular Genetics (2014)

Nicola Whiffin Fay J. Hosking Susan M. Farrington Claire Palles Sara E. Dobbins

To identify common variants influencing colorectal cancer (CRC) risk, we performed a meta-analysis of five genome-wide association studies, comprising 5626 cases and 7817 controls of European descent. We conducted replication of top ranked single nucleotide polymorphisms (SNPs) in additional series totalling 14 037 cases and 15 937 controls, identifying a new CRC risk locus at 10q24.2 [rs1035209; odds ratio (OR) = 1.13, P = 4.54 × 10−11]. We also performed meta-analysis of our studies, with previously published data, of several recently purported CRC risk loci. We failed to find convincing evidence for a previously reported genome-wide association at rs11903757 (2q32.3). Of the three additional loci for which evidence of an association in Europeans has been previously described we failed to show an association between rs59336 (12q24.21) and CRC risk. However, for the other two SNPs, our analyses demonstrated new, formally significant associations with CRC. These are rs3217810 intronic in CCND2 (12p13.32; OR = 1.19, P = 2.16 × 10−10) and rs10911251 near LAMC1 (1q25.3; OR = 1.09, P = 1.75 × 10−8). Additionally, we found some evidence to support a relationship between, rs647161, rs2423297 and rs10774214 and CRC risk originally identified in East Asians in our European datasets. Our findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CRC.

Genome-wide Association Study

Genetic Association

10.1093/hmg/ddu177

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Citations (141)

Mortality Among Adults With Intellectual Disability in England: Comparisons With the General Population

American Journal of Public Health (2016)

Fay J. Hosking Iain M. Carey Sunil Shah Tess Harris Stephen DeWilde

To describe mortality among adults with intellectual disability in England in comparison with the general population.We conducted a cohort study from 2009 to 2013 using data from 343 general practices. Adults with intellectual disability (n = 16 666; 656 deaths) were compared with age-, gender-, and practice-matched controls (n = 113 562; 1358 deaths).Adults with intellectual disability had higher mortality rates than controls (hazard ratio [HR] = 3.6; 95% confidence interval [CI] = 3.3, 3.9). This risk remained high after adjustment for comorbidity, smoking, and deprivation (HR = 3.1; 95% CI = 2.7, 3.4); it was even higher among adults with intellectual disability and Down syndrome or epilepsy. A total of 37.0% of all deaths among adults with intellectual disability were classified as being amenable to health care intervention, compared with 22.5% in the general population (HR = 5.9; 95% CI = 5.1, 6.8).Mortality among adults with intellectual disability is markedly elevated in comparison with the general population, with more than a third of deaths potentially amenable to health care interventions. This mortality disparity suggests the need to improve access to, and quality of, health care among people with intellectual disability.

10.2105/ajph.2016.303240

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Citations (222)

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Scientific Reports (2015)

Nada Al Tassan Nicola Whiffin Fay J. Hosking Claire Palles Susan M. Farrington

Abstract Genome-wide association studies (GWAS) of colorectal cancer (CRC) have identified 23 susceptibility loci thus far. Analyses of previously conducted GWAS indicate additional risk loci are yet to be discovered. To identify novel CRC susceptibility loci, we conducted a new GWAS and performed a meta-analysis with five published GWAS (totalling 7,577 cases and 9,979 controls of European ancestry), imputing genotypes utilising the 1000 Genomes Project. The combined analysis identified new, significant associations with CRC at 1p36.2 marked by rs72647484 (minor allele frequency [MAF] = 0.09) near CDC42 and WNT4 ( P = 1.21 × 10 −8 , odds ratio [OR] = 1.21 ) and at 16q24.1 marked by rs16941835 (MAF = 0.21, P = 5.06 × 10 −8 ; OR = 1.15) within the long non-coding RNA (lncRNA) RP11-58A18.1 and ~500 kb from the nearest coding gene FOXL1 . Additionally we identified a promising association at 10p13 with rs10904849 intronic to CUBN (MAF = 0.32, P = 7.01 × 10 -8 ; OR = 1.14). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CRC. Additionally, our analysis further demonstrates that imputation can be used to exploit GWAS data to identify novel disease-causing variants.

Genome-wide Association Study

Imputation (statistics)

Genetic Association

Minor allele frequency

Linkage Disequilibrium

1000 Genomes Project

10.1038/srep10442

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Citations (123)

“I'm sure we made it a better study…” Parent carers’ and adults with intellectual disabilities’ experiences of patient and public involvement in a health research study

Iain M. Carey Fay J. Hosking Stephen DeWilde Daniel Cook Paula Jean Manners

Ethics: The main study (protocol number 13_094R) was approved by the Independent Scientific Advisory Committee (ISAC) evaluation of protocols of research involving CPRD data in July 2013. St George’s Joint Research and Enterprise Office, acting on behalf of the study sponsor, confirmed no further ethical review was required.

Research Ethics

George (robot)

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