| Item to be specified |
Details by type of study |
| Genotype prevalence |
Gene-disease associations |
| Purpose of study |
Yes
|
Detect associations or estimate magnitude of association
|
| Analytic validity of genotyping |
|
|
|
Types of samples used |
Yes
|
For cases and for controls
|
|
Timing of sample collection and analysis, by study group* |
Ethnic group†
|
Cases vs. controls†
|
|
Success rate in extracting DNA, by study group* |
Ethnic group†
|
Cases vs. controls†
|
|
Definition of the genotype(s) investigated; when there are multiple alleles, those tested for should be specified |
Yes
|
Yes
|
|
Genotyping method used (reference; for polymerase chain reaction methods—primer sequences,* thermocyle profile,* no. of cycles*) |
Yes
|
Yes
|
|
Percentage of potentially eligible subjects for whom valid genotypic data were obtained, by study group |
Ethnic group†
|
Cases vs. controls†
|
|
If pooling was used, strategy for pooling of specimens from cases and controls |
|
Yes
|
|
Quality control measures* |
Yes
|
Including blinding of
laboratory staff
|
|
Degree of reproducibility between quality control replicates |
Yes
|
Yes
|
|
Samples from each group of subjects compared (e.g., cases and controls) included in each batch analyzed* |
|
Yes
|
| Selection of study subjects |
|
|
|
Geographic area from which subjects were recruited |
Yes
|
Yes
|
|
The recruitment period |
Yes
|
Yes
|
|
Recruitment methods for subjects whose genotypes were determined, such as random population-based sampling, blood donors, and hospitalized subjects with reasons for hospitalization |
Yes
|
Controls†
|
|
Definition of cases and method of ascertainment |
|
Yes
|
|
No. of cases recruited from families and methods used to account for related subjects |
|
Yes
|
|
Exclusion criteria for cases and controls |
|
Yes
|
|
Recruitment rates |
Where possible by sex, age, and ethnic group
|
For cases and controls
|
|
Mean age and standard deviation or age range of study subjects, and the distribution by sex |
Yes
|
For cases and controls
|
|
If the subjects were controls from a case-control study, information on the disease under investigation and any matching criteria such as age, gender, and/or risk factor levels |
Yes
|
|
|
Ethnic group of study subjects |
Yes
|
|
|
Similarity of sociodemographic (or other) characteristics of subjects for whom valid genotypic data were obtained with characteristics of subjects for whom such data were not obtained* |
|
Yes
|
|
Steps taken to ensure that controls are noncases* |
|
Yes
|
| Confounding, including population stratification |
|
|
|
Design |
|
Yes
|
|
If other than a case-family control design, matching for ethnicity or adjustment for ethnicity in analysis |
|
Yes
|
|
Potential correlates of the genotype identified and taken into consideration in design or analysis |
|
Yes
|
| Statistical issues |
|
|
|
Distinguish clearly a priori hypotheses and hypotheses generated |
|
Yes
|
|
If haplotypes used, specify how these were constructed |
Yes
|
Yes
|
|
No. of subjects included in the analysis |
Yes
|
Yes
|
|
Method of analysis, with reference, and software used to do this |
|
Yes
|
|
Confidence intervals |
Of genotype frequency
|
Of measures of association with the genotype
|
|
Assessment of goodness-of-fit of the model used* |
|
Yes
|
