Checklist for reporting a genetic association study

Explain the scientific background and rationale for the investigation being reported. Read more

State specific objectives, including any prespecified hypotheses. State if the study is the first report of a genetic association, a replication effort, or both. Read more

Present key elements of study design early in the paper. Read more

Describe the setting, locations, and relevant dates, including periods of recruitment, exposure, follow-up, and data collection. Read more

Cohort study – Give the eligibility criteria, and the sources and methods of selection of participants. Describe methods of follow-up. Case-control study – Give the eligibility criteria, and the sources and methods of case ascertainment and control selection. Give the rationale for the choice of cases and controls. Cross-sectional study – Give the eligibility criteria, and the sources and methods of selection of participants. Give information on the criteria and methods for selection of subsets of participants from a larger study, when relevant. Read more

Cohort study – For matched studies, give matching criteria and number of exposed and unexposed. Case-control study – For matched studies, give matching criteria and the number of controls per case. Read more

Clearly define all outcomes, exposures, predictors, potential confounders, and effect modifiers. Give diagnostic criteria, if applicable. Read more

Clearly define genetic exposures (genetic variants) using a widely-used nomenclature system. Identify variables likely to be associated with population stratification (confounding by ethnic origin).

For each variable of interest give sources of data and details of methods of assessment (measurement). Describe comparability of assessment methods if there is more than one group. Give information separately for for exposed and unexposed groups if applicable. Read more

Describe laboratory methods, including source and storage of DNA, genotyping methods and platforms (including the allele calling algorithm used, and its version), error rates and call rates. State the laboratory / centre where genotyping was done. Describe comparability of laboratory methods if there is more than one group. Specify whether genotypes were assigned using all of the data from the study simultaneously or in smaller batches.

Describe any efforts to address potential sources of bias. Read more

Describe any efforts to address potential sources of bias. Read more

Explain how the study size was arrived at. Read more

Explain how quantitative variables were handled in the analyses. If applicable, describe which groupings were chosen, and why. If applicable, describe how effects of treatment were dealt with. Read more

Describe all statistical methods, including those used to control for confounding. State software version used and options (or settings) chosen. Read more

Describe any methods used to examine subgroups and interactions. Read more

Explain how missing data were addressed. Read more

If applicable, explain how loss to follow-up was addressed. Read more

Describe any sensitivity analyses. Read more

State whether Hardy-Weinberg equilibrium was considered and, if so, how.

Describe any methods used for inferring genotypes or haplotypes.

Describe any methods used to assess or address population stratification.

Describe any methods used to address multiple comparisons or to control risk of false positive findings.

Describe any methods used to address and correct for relatedness among subjects.

Report numbers of individuals at each stage of study—eg numbers potentially eligible, examined for eligibility, confirmed eligible, included in the study, completing follow-up, and analysed. Give information separately for for exposed and unexposed groups if applicable. Report numbers of individuals in whom genotyping was attempted and numbers of individuals in whom genotyping was successful. Read more

Give reasons for non-participation at each stage. Read more

Consider use of a flow diagram. Read more

Give characteristics of study participants (eg demographic, clinical, social) and information on exposures and potential confounders. Give information separately for exposed and unexposed groups if applicable. Consider giving information by genotype. Read more

Indicate number of participants with missing data for each variable of interest. Read more

Cohort study – Summarize follow-up time, e.g. average and total amount. Read more

Cohort study Report numbers of outcome events or summary measures over time.Give information separately for exposed and unexposed groups if applicable. Report outcomes (phenotypes) for each genotype category over time Case-control study – Report numbers in each exposure category, or summary measures of exposure.Give information separately for cases and controls . Report numbers in each genotype category. Cross-sectional study – Report numbers of outcome events or summary measures. Give information separately for exposed and unexposed groups if applicable. Report outcomes (phenotypes) for each genotype category. Read more

Give unadjusted estimates and, if applicable, confounder-adjusted estimates and their precision (eg, 95% confidence interval). Make clear which confounders were adjusted for and why they were included. Read more

Report category boundaries when continuous variables were categorized. Read more

If relevant, consider translating estimates of relative risk into absolute risk for a meaningful time period. Read more

Report results of any adjustments for multiple comparisons.

Report other analyses done—e.g., analyses of subgroups and interactions, and sensitivity analyses. Read more

Report other analyses done—e.g., analyses of subgroups and interactions, and sensitivity analyses. Read more

Report other analyses done—e.g., analyses of subgroups and interactions, and sensitivity analyses. Read more

Summarise key results with reference to study objectives.

Discuss limitations of the study, taking into account sources of potential bias or imprecision. Discuss both direction and magnitude of any potential bias. Read more

Give a cautious overall interpretation considering objectives, limitations, multiplicity of analyses, results from similar studies, and other relevant evidence. Read more

Discuss the generalisability (external validity) of the study results. Read more

Give the source of funding and the role of the funders for the present study and, if applicable, for the original study on which the present article is based. Read more