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What is genetic association?

Genetic Association is the presence of a variant allele at a higher frequency in unrelated subjects with a particular disease (cases), compared to those that do not have the disease (controls).


What is a loci and a haplotype?

• Locus - A position in the genome
• Haplotype - This is the order of alleles along achromosome


What are cases?

Cases are subjects with the disease of interest, e.g. obesity, schizophrenia, hypertension


What is required for a case-control study?

• Definition of the disease must be applied in a rigorous and consistent way
• Controls must be as well-matched as possible for non-disease traits
• Such as age, sex, ethnicity, location, etc.
• Controls must be identical to the cases, but should not have the disease