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Article ; Online: Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes.

Prince, Claire / Mitchell, Ruth E / Richardson, Tom G

2021 Volume 108, Issue 12, Page(s) 2259–2270

Abstract: Developing functional insight into the causal molecular drivers of immunological disease is a critical challenge in genomic medicine. Here, we systematically apply Mendelian randomization (MR), genetic colocalization, immune-cell-type enrichment, and ... ...

Abstract	Developing functional insight into the causal molecular drivers of immunological disease is a critical challenge in genomic medicine. Here, we systematically apply Mendelian randomization (MR), genetic colocalization, immune-cell-type enrichment, and phenome-wide association methods to investigate the effects of genetically predicted gene expression on ten immune-associated diseases and four cancer outcomes. Using whole blood-derived estimates for regulatory variants from the eQTLGen consortium (n = 31,684), we constructed genetic risk scores for 10,104 genes. Applying the inverse-variance-weighted MR method transcriptome wide while accounting for linkage disequilibrium structure identified 664 unique genes with evidence of a genetically predicted effect on at least one disease outcome (p < 4.81 × 10
MeSH term(s)	Gene Expression Profiling ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genomic Medicine ; Humans ; Immune System Diseases/genetics ; Linkage Disequilibrium ; Mendelian Randomization Analysis ; Neoplasms/genetics ; Outcome Assessment, Health Care ; Phenomics ; Quantitative Trait Loci ; Risk Factors ; Transcriptome
Language	English
Publishing date	2021-11-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2021.10.003
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Article ; Online: Establishing the relationships between adiposity and reproductive factors: a multivariable Mendelian randomization analysis.

Prince, Claire / Howe, Laura D / Sharp, Gemma C / Fraser, Abigail / Richmond, Rebecca C

BMC medicine

2023 Volume 21, Issue 1, Page(s) 350

Abstract: Background: Few studies have investigated associations between adiposity and reproductive factors using causal methods, both of which have a number of consequences on women's health. Here we assess whether adiposity at different points in the lifecourse ...

Abstract	Background: Few studies have investigated associations between adiposity and reproductive factors using causal methods, both of which have a number of consequences on women's health. Here we assess whether adiposity at different points in the lifecourse affects reproductive factors differently and independently, and the plausibility of the impact of reproductive factors on adiposity. Methods: We used genetic data from UK Biobank (273,238 women) and other consortia (EGG, GIANT, ReproGen and SSGAC) for eight reproductive factors: age at menarche, age at menopause, age at first birth, age at last birth, number of births, being parous, age first had sexual intercourse and lifetime number of sexual partners, and two adiposity traits: childhood and adulthood body size. We applied multivariable Mendelian randomization to account for genetic correlation and to estimate the causal effects of childhood and adulthood adiposity, independently of each other, on reproductive factors. Additionally, we estimated the effects of reproductive factors, independently of other relevant reproductive factors, on adulthood adiposity. Results: We found a higher childhood body size leads to an earlier age at menarche, and an earlier age at menarche leads to a higher adulthood body size. Furthermore, we find contrasting and independent effects of childhood and adulthood body size on age at first birth (beta 0.22 SD (95% confidence interval: 0.14, 0.31) vs - 2.49 (- 2.93, - 2.06) per 1 SD increase), age at last birth (0.13 (0.06,0.21) vs - 1.86 (- 2.23, - 1.48) per 1 SD increase), age at menopause (0.17 (0.09, 0.25) vs - 0.99 (- 1.39, - 0.59) per 1 SD increase), and likelihood of having children (Odds ratio 0.97 (0.95, 1.00) vs 1.20 (1.06, 1.37) per 1 SD increase). Conclusions: Our findings demonstrate the importance of considering a lifecourse approach when investigating the inter-relationships between adiposity measures and reproductive events, as well as the use of 'age specific' genetic instruments when evaluating lifecourse hypotheses in a Mendelian randomization framework.
MeSH term(s)	Female ; Humans ; Adiposity/genetics ; Menarche/genetics ; Mendelian Randomization Analysis ; Menopause/genetics ; Obesity
Language	English
Publishing date	2023-09-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2131669-7
ISSN	1741-7015 ; 1741-7015
ISSN (online)	1741-7015
ISSN	1741-7015
DOI	10.1186/s12916-023-03051-x
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Article ; Online: The relationships between women's reproductive factors: a Mendelian randomisation analysis.

Prince, Claire / Sharp, Gemma C / Howe, Laura D / Fraser, Abigail / Richmond, Rebecca C

BMC medicine

2022 Volume 20, Issue 1, Page(s) 103

Abstract: Background: Women's reproductive factors include their age at menarche and menopause, the age at which they start and stop having children and the number of children they have. Studies that have linked these factors with disease risk have largely ... ...

Abstract	Background: Women's reproductive factors include their age at menarche and menopause, the age at which they start and stop having children and the number of children they have. Studies that have linked these factors with disease risk have largely investigated individual reproductive factors and have not considered the genetic correlation and total interplay that may occur between them. This study aimed to investigate the nature of the relationships between eight female reproductive factors. Methods: We used data from the UK Biobank and genetic consortia with data available for the following reproductive factors: age at menarche, age at menopause, age at first birth, age at last birth, number of births, being parous, age first had sexual intercourse and lifetime number of sexual partners. Linkage disequilibrium score regression (LDSC) was performed to investigate the genetic correlation between reproductive factors. We then applied Mendelian randomisation (MR) methods to estimate the causal relationships between these factors. Sensitivity analyses were used to investigate directionality of the effects, test for evidence of pleiotropy and account for sample overlap. Results: LDSC indicated that most reproductive factors are genetically correlated (r Conclusion: This study presents evidence that women's reproductive factors are genetically correlated and causally related. Future studies examining the health sequelae of reproductive factors should consider a woman's entire reproductive history, including the causal interplay between reproductive factors.
MeSH term(s)	Age Factors ; Child ; Female ; Humans ; Menarche/genetics ; Mendelian Randomization Analysis/methods ; Menopause/genetics ; Parturition ; Pregnancy ; Reproductive History ; Risk Factors
Language	English
Publishing date	2022-03-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2131669-7
ISSN	1741-7015 ; 1741-7015
ISSN (online)	1741-7015
ISSN	1741-7015
DOI	10.1186/s12916-022-02293-5
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Article ; Online: Methodological approaches, challenges, and opportunities in the application of Mendelian randomisation to lifecourse epidemiology: A systematic literature review.

Power, Grace M / Sanderson, Eleanor / Pagoni, Panagiota / Fraser, Abigail / Morris, Tim / Prince, Claire / Frayling, Timothy M / Heron, Jon / Richardson, Tom G / Richmond, Rebecca / Tyrrell, Jessica / Warrington, Nicole / Davey Smith, George / Howe, Laura D / Tilling, Kate M

European journal of epidemiology

2023

Abstract: Diseases diagnosed in adulthood may have antecedents throughout (including prenatal) life. Gaining a better understanding of how exposures at different stages in the lifecourse influence health outcomes is key to elucidating the potential benefits of ... ...

Abstract	Diseases diagnosed in adulthood may have antecedents throughout (including prenatal) life. Gaining a better understanding of how exposures at different stages in the lifecourse influence health outcomes is key to elucidating the potential benefits of disease prevention strategies. Mendelian randomisation (MR) is increasingly used to estimate causal effects of exposures across the lifecourse on later life outcomes. This systematic literature review explores MR methods used to perform lifecourse investigations and reviews previous work that has utilised MR to elucidate the effects of factors acting at different stages of the lifecourse. We conducted searches in PubMed, Embase, Medline and MedRXiv databases. Thirteen methodological studies were identified. Four studies focused on the impact of time-varying exposures in the interpretation of "standard" MR techniques, five presented methods for repeat measures of the same exposure, and four described methodological approaches to handling multigenerational exposures. A further 127 studies presented the results of an applied research question. Over half of these estimated effects in a single generation and were largely confined to the exploration of questions regarding body composition. The remaining mostly estimated maternal effects. There is a growing body of research focused on the development and application of MR methods to address lifecourse research questions. The underlying assumptions require careful consideration and the interpretation of results rely on select conditions. Whilst we do not advocate for a particular strategy, we encourage practitioners to make informed decisions on how to approach a research question in this field with a solid understanding of the limitations present and how these may be affected by the research question, modelling approach, instrument selection, and data availability.
Language	English
Publishing date	2023-11-08
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	632614-6
ISSN	1573-7284 ; 0393-2990
ISSN (online)	1573-7284
ISSN	0393-2990
DOI	10.1007/s10654-023-01032-1
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Article ; Online: Investigating the DNA methylation profile of e-cigarette use.

Richmond, Rebecca C / Sillero-Rejon, Carlos / Khouja, Jasmine N / Prince, Claire / Board, Alexander / Sharp, Gemma / Suderman, Matthew / Relton, Caroline L / Munafò, Marcus / Gage, Suzanne H

Clinical epigenetics

2021 Volume 13, Issue 1, Page(s) 183

Abstract: Background: Little evidence exists on the health effects of e-cigarette use. DNA methylation may serve as a biomarker for exposure and could be predictive of future health risk. We aimed to investigate the DNA methylation profile of e-cigarette use.: ... ...

Abstract	Background: Little evidence exists on the health effects of e-cigarette use. DNA methylation may serve as a biomarker for exposure and could be predictive of future health risk. We aimed to investigate the DNA methylation profile of e-cigarette use. Results: Among 117 smokers, 117 non-smokers and 116 non-smoking vapers, we evaluated associations between e-cigarette use and epigenome-wide methylation from saliva. DNA methylation at 7 cytosine-phosphate-guanine sites (CpGs) was associated with e-cigarette use at p < 1 × 10 Conclusions: The DNA methylation profile for e-cigarette use is largely distinct from that of cigarette smoking, did not replicate in independent samples, and was unable to discriminate lung cancer from normal tissue. The extent to which methylation related to long-term e-cigarette use translates into chronic effects requires further investigation.
MeSH term(s)	Adult ; DNA Methylation/drug effects ; Epigenome ; Female ; Humans ; Male ; Surveys and Questionnaires ; Vaping/adverse effects ; Vaping/physiopathology
Language	English
Publishing date	2021-09-28
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553921-8
ISSN	1868-7083 ; 1868-7075
ISSN (online)	1868-7083
ISSN	1868-7075
DOI	10.1186/s13148-021-01174-7
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Article ; Online: Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar, Abida / Prince, Claire / Payne, Chloe / Fasham, James / Ahmad, Wasim / Baple, Emma L / Crosby, Andrew H / Harlalka, Gaurav V / Gul, Asma

BMC medical genetics

2019 Volume 20, Issue 1, Page(s) 145

Abstract: Background: Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be ... ...

Abstract	Background: Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by transgrediens PPK, associated with mutations in the secreted LY6/PLAUR domain containing 1 (SLURP1) gene. Methods: This study describes clinical as well as genetic whole exome sequencing (WES) and di-deoxy sequencing investigations in two Pakistani families with a total of 12 individuals affected by PPK. Results: WES identified a novel homozygous nonsense variant in SLURP1, and a novel heterozygous nonsense variant in DSG1, as likely causes of the conditions in each family. Conclusions: This study expands knowledge regarding the molecular basis of PPK, providing important information to aid clinical management in families with PPK from Pakistan.
MeSH term(s)	Adolescent ; Adult ; Antigens, Ly/genetics ; Child ; Codon, Nonsense ; Desmoglein 1/genetics ; Ethnic Groups ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Genetic Variation ; Genotype ; Heterozygote ; Homozygote ; Humans ; Keratoderma, Palmoplantar/genetics ; Male ; Middle Aged ; Mutation ; Pakistan ; Pedigree ; Urokinase-Type Plasminogen Activator/genetics ; Whole Exome Sequencing ; Young Adult
Chemical Substances	Antigens, Ly ; Codon, Nonsense ; DSG1 protein, human ; Desmoglein 1 ; SLURP1 protein, human ; Urokinase-Type Plasminogen Activator (EC 3.4.21.73)
Language	English
Publishing date	2019-08-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-019-0872-1
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Article: The EWAS Catalog: a database of epigenome-wide association studies.

Wellcome open research

2022 Volume 7, Page(s) 41

Abstract: Epigenome-wide association studies (EWAS) seek to quantify associations between traits/exposures and DNA methylation measured at thousands or millions of CpG sites across the genome. In recent years, the increase in availability of DNA methylation ... ...

Abstract	Epigenome-wide association studies (EWAS) seek to quantify associations between traits/exposures and DNA methylation measured at thousands or millions of CpG sites across the genome. In recent years, the increase in availability of DNA methylation measures in population-based cohorts and case-control studies has resulted in a dramatic expansion of the number of EWAS being performed and published. To make this rich source of results more accessible, we have manually curated a database of CpG-trait associations (with p<1x10
Language	English
Publishing date	2022-05-31
Publishing country	England
Document type	Journal Article
ISSN	2398-502X
ISSN	2398-502X
DOI	10.12688/wellcomeopenres.17598.2
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Article ; Online: A view from the field - some of the realities of 'doing problem based learning'.

Wray, Julie / Oliver, Kim / Payne, Jayne / Prince, Claire

Nurse education in practice

2008 Volume 4, Issue 3, Page(s) 151–153

Language	English
Publishing date	2008-11-08
Publishing country	Scotland
Document type	Editorial
ZDB-ID	2058575-5
ISSN	1873-5223 ; 1471-5953
ISSN (online)	1873-5223
ISSN	1471-5953
DOI	10.1016/j.nepr.2004.07.003
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Article ; Online: Investigating the impact of cigarette smoking behaviours on DNA methylation patterns in adolescence.

Prince, Claire / Hammerton, Gemma / Taylor, Amy E / Anderson, Emma L / Timpson, Nicholas J / Davey Smith, George / Munafò, Marcus R / Relton, Caroline L / Richmond, Rebecca C

Human molecular genetics

2017 Volume 28, Issue 1, Page(s) 155–165

Abstract: Smoking usually begins in adolescence, and early onset of smoking has been linked to increased risk of later life disease. There is a need to better understand the biological impact of cigarette smoking behaviours in adolescence. DNA methylation profiles ...

Abstract	Smoking usually begins in adolescence, and early onset of smoking has been linked to increased risk of later life disease. There is a need to better understand the biological impact of cigarette smoking behaviours in adolescence. DNA methylation profiles related to smoking behaviours and cessation in adulthood have been previously identified, but alterations arising from smoking initiation have not been thoroughly investigated. We aimed to investigate DNA methylation in the Avon Longitudinal Study of Parents and Children in relation to (1) different smoking measures, (2) time since smoking initiation and frequency of smoke exposure and (3) latent classes of smoking behaviour. Using 2620 CpG sites previously associated with cigarette smoking, we investigated DNA methylation change in relation to own smoking measures, smoke exposure duration and frequency, and using longitudinal latent class analysis of different smoking behaviour patterns in 968 adolescents. Eleven CpG sites located in seven gene regions were differentially methylated in relation to smoking in adolescence. While only AHRR (cg05575921) showed a robust pattern of methylation in relation to weekly smoking, several CpGs showed differences in methylation among individuals who had tried smoking compared with non-smokers. In relation to smoke exposure duration and frequency, cg05575921 showed a strong dose-response relationship, while there was evidence for more immediate methylation change at other sites. Our findings illustrate the impact of cigarette smoking behaviours on DNA methylation at some smoking-responsive CpG sites, even among individuals with a short smoking history.
MeSH term(s)	Adolescent ; Cigarette Smoking/adverse effects ; Cigarette Smoking/genetics ; Cohort Studies ; CpG Islands/genetics ; DNA Methylation/drug effects ; Epigenesis, Genetic/genetics ; Female ; Humans ; Longitudinal Studies ; Male ; Smoking/genetics ; Surveys and Questionnaires ; Nicotiana
Language	English
Publishing date	2017-10-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddy316
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