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Genomic research can spot all kinds of predispositions -- so why not a predisposition to react to a skin cream or pollutant?
Recently, a specific change in the sequence of the fetal AR gene has been associated with predisposition to PTB (Karjalainen et al., 2012).
To their surprise, researchers found that the human genome might not be a "tidy collection of independent genes" after all, with each sequence of DNA linked to a single function, such as a predisposition to diabetes or heart disease.
Genetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP).
Sequence of the story".
The contribution of specific germline sequence variants as predisposition alleles to specific tumor types has been suggested, however the majority of germline mtDNA sequence variants appear unlikely to directly contribute to tumorigenesis because of the frequency of such changes in individuals without tumors.
Do adolescents have a kind of predisposition to drug addiction?
Hoarders may have some kind of predisposition towards addictive behaviours".
Hoarders may have some kind of predisposition towards addictive behaviors".
In justifying this, the ACMG pointed to the potential implications for parents in cases where actionable genetic predispositions are discovered through genomic sequencing of related children (e.g. in cases concerning the BRCA1 gene).
The lack of significant association evidence of single variants with disease in this two-stage approach emphasizes the high genetic heterogeneity of epilepsy disorders, suggests that the impact of any individual single-nucleotide variant in this disease is small, and indicates that gene-based approaches might be more successful for future sequencing studies of epilepsy predisposition.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com