Results of the Inquiry and Citation Review

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Bioethics issues in human studies

Genotype information

General considerations

In a strict sense, genotype information is information about the sequences of the DNA, RNA or protein molecules of an individual. In a broader sense, it can be viewed as any information about the genetic make-up of an identifiable person, whether it comes from sequence analysis or from any other source; for example the family history of diseases (because the presence of genetic conditions in family members enables conclusions to be reached about a person's genotype), the direct observation of the person's phenotype (which can reveal information on the genotype, e.g., blue eyes, Down's syndrome), or the functional or structural analysis of proteins expressed in the individual (which may indicate the presence of the genes that have coded for these proteins) [13].

In the context of nutrigenomics, genotyping mainly refers to the identification of SNP (single nucleotide polymorphism) or gene products such as proteins or other metabolites that are associated with increased or decreased risk of diet-related disease by modifying the effects of diet or dietary factors [18, 21].

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