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At least 631 records · Page 35Linked to original sources
PubMed2001

Epidemiological methods for studying genes and environmental factors in complex diseases.

Exploration of the human genome presents new challenges and opportunities for epidemiological research. Although the case-control design is quicker and cheaper for study of associations between genotype and risk of disease than the cohort design, cohort studies have been recommended because they can be used to study gene-environment interactions. Although the scientific relevance of statistical interaction is pertinent, the main disadvantage of the case-control design-susceptibility to bias when estimating effects of exposures that are measured retrospectively-does not necessarily apply when studying statistical interaction between genotype and environmental exposure. Because correctly designed genetic association studies are equivalent to randomised comparisons between genotypes, conclusions about cause can be drawn from genetic associations even when the risk ratio is modest. For adequate statistical power to detect such modest risk ratios, the case-control design is more feasible than the cohort design.

Case-Control Studies↗
PubMed2003

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases.

We apply a high-throughput protocol of chip-based mass spectrometry (matrix-assisted laser desorption/ionization time-of-flight; MALDI-TOF) as a method of screening for differences in single-nucleotide polymorphism (SNP) allele frequencies. Using pooled DNA from individuals with asthma, Crohn's disease (CD), schizophrenia, type 1 diabetes (T1D), and controls, we selected 534 SNPs from an initial set of 1435 SNPs spanning a 25-Mb region on chromosome 6p21. The standard deviations of measurements of time of flight at different dots, from different PCRs, and from different pools indicate reliable results on each analysis step. In 90% of the disease-control comparisons we found allelic differences of <10%. Of the T1D samples, which served as a positive control, 10 SNPs with significant differences were observed after taking into account multiple testing. Of these 10 SNPs, 5 are located between DQB1 and DRB1, confirming the known association with the DR3 and DR4 haplotypes whereas two additional SNPs also reproduced known associations of T1D with DOB and LTA. In the CD pool also, two earlier described associations were found with SNPs close to DRB1 and MICA. Additional associations were found in the schizophrenia and asthma pools. They should be confirmed in individual samples or can be used to develop further quality criteria for accepting true differences between pools. The determination of SNP allele frequencies in pooled DNA appears to be of value in assigning further genotyping priorities also in large linkage regions.

Asthma↗
PubMed2002

Gene-expression profiling and the genetic dissection of complex disease.

Several recent studies have highlighted how combining the powerful techniques of microarray analysis and congenic-strain analysis may greatly facilitate unravelling the genetic basis of susceptibility to common autoimmune diseases. In addition to providing pointers to the genetic variants themselves, the pathway(s) they control may also be highlighted, thereby identifying new targets for therapeutic intervention.

Animals↗