Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

BMC Medical Research Methodology
Sara RaimondiM-SKIP study group

Abstract

For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. Howev...Continue Reading

References

Jun 12, 2014·International Journal of Cancer. Journal International Du Cancer·Elena PasqualiM-SKIP study group
Jun 24, 2015·British Journal of Cancer·E TagliabueM-SKIP study group
Jun 3, 2016·The Journal of Investigative Dermatology·Elena TagliabueM-SKIP study group
Jan 30, 2019·Archives of Toxicology·Tobias TietzHolger Schwender
Mar 4, 2020·Expert Review of Molecular Diagnostics·Bruna Dalmasso, Paola Ghiorzo
Aug 12, 2020·Journal of the European Academy of Dermatology and Venereology : JEADV·Irene StefanakiM-SKIP Study Group

Citations

May 1, 1991·Journal of Photochemistry and Photobiology. B, Biology·N KolliasM R Chedekel
Oct 1, 1996·Human Molecular Genetics·P ValverdeJonathan L Rees
Oct 6, 1997·BMJ : British Medical Journal·M EggerC Minder
Jul 17, 1998·The Journal of Investigative Dermatology·R SmithJonathan L Rees
Aug 12, 1998·The Journal of Investigative Dermatology·F Ichii-JonesR C Strange
May 26, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·F I JonesR C Strange
Sep 24, 1999·IARC Scientific Publications·C R Wolf, G Smith
Dec 22, 1999·American Journal of Epidemiology·M Huberman, B Langholz
Oct 13, 2000·Human Molecular Genetics·Niamh FlanaganJonathan L Rees
Dec 21, 2000·Statistics in Medicine·R M TurnerS G Thompson
Feb 17, 2001·The Journal of Investigative Dermatology·Neil F BoxRichard A Sturm
Mar 10, 2001·Nature·R SachidanandamInternational SNP Map Working Group
Mar 20, 2001·American Journal of Human Genetics·M BastiaensLeiden Skin Cancer Study Team
May 8, 2001·Medical and Pediatric Oncology·S RamachandranR C Strange
Jul 6, 2001·Statistics in Medicine·T A StukelM R Karagas
Aug 7, 2001·Human Molecular Genetics·M BastiaensJ N Bouwes Bavinck
Sep 11, 2001·Pigment Cell Research·J VoiseyA van Daal
Nov 6, 2001·Annals of Internal Medicine·John P A IoannidisInternational Meta-analysis of HIV Host Genetics
Jan 17, 2002·Genetic Epidemiology·Charles KooperbergL Hsu
Jul 12, 2002·Statistics in Medicine·Julian P T Higgins, Simon G Thompson
Jul 27, 2002·American Journal of Epidemiology·John P A IoannidisInternational Meta-analysis of HIV Host Genetics
Feb 13, 2003·Human Genetics·Mark D ShriverRick A Kittles
Jan 8, 2004·Human Molecular Genetics·David L DuffyRichard A Sturm
Mar 11, 2004·The Journal of Investigative Dermatology·Lisa NaysmithJonathan L Rees
Jun 29, 2004·Human Mutation·Lorenza PastorinoGiovanna Bianchi Scarra
Nov 9, 2004·Genetic Epidemiology·Charles Kooperberg, Ingo Ruczinski
Dec 25, 2004·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Sara GandiniCarmelo Francesco Melchi
Mar 8, 2005·Mutation Research·Francois RouzaudVincent J Hearing
May 13, 2005·European Journal of Human Genetics : EJHG·Anne-Sophie Jannot Melan-Cohort
Jul 7, 2005·Journal of the National Cancer Institute·Maria Teresa LandiRuth M Pfeiffer
Aug 30, 2005·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Sara GandiniCarmelo Francesco Melchi
Jan 19, 2006·Journal of the National Cancer Institute·Maria Concetta FargnoliKetty Peris
Apr 8, 2006·The Journal of Investigative Dermatology·Alexander J StratigosAndreas D Katsambas
Apr 21, 2006·American Journal of Epidemiology·Stephanie A Smith-WarnerDavid J Hunter
Apr 29, 2006·The Journal of Investigative Dermatology·Muriel LiboutetNadem Soufir

Related Concepts

Malignant Neoplasm of Skin
Meta-Analysis (Publications)
Meta Analysis (Statistical Procedure)
MC1R Protein
Sunlight
Aggregation
Hospitalization
Neoplasms
Logistic Regression
Data Interpretation, Statistical

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
A Cecile J W JanssensCornelia M van Duijn
Annals of Oncology : Official Journal of the European Society for Medical Oncology
P RadiceS Tommasi
Nihon rinsho. Japanese journal of clinical medicine
Shoichiro Tsugane
© 2020 Meta ULC. All rights reserved