Volume 1 Issue 2
ABO Blood Group Association with DBH, COMT, MAOA, and ACE: Additive Effects, Diversity & Stability in Human Populations
Donna K. Hobgood, M.D*
ABO blood groups have distinctive population frequency distributions that show stratification of health risks and behavioral traits. Further, this Mendelian trait can be a useful tool to study how additive effects with many other Mendelian traits produce stratification of populations as to risks of disease and of personality traits. For example, via linkage disequilibrium at the ABO/DBH loci at chromosome 9q34, ABO blood group A can be seen to be associated with high activity dopamine beta hydroxylase (DBH).
Towards the Identification of Genetic Targets for Therapeutics of Intellectual Disability in Down syndrome
Down syndrome, or Trisomy 21, is the most frequent genetic cause of the intellectual disability, a cognitive disorder with hard impact on public health. The expression of this feature is due to the overexpression of the human chromosome 21 genes. The genetic dissection of the Down syndrome neurological phenotypes in trisomic mouse models greatly enhanced our understanding of cellular and molecular mechanisms of gene dosage effects and the associated signalling pathways involved in the morphological and functional brain alterations, and in the pathogenesis of intellectual disability towards the identification of molecular targets for clinical therapeutics.