There is an excellent review article on genetic kidney diseases published in Lancet last month (Hildebrandt Lancet April 2010). It has the comprehensive list of prominent single gene kidney disorders and polygenic risk alleles of common disorders. Few general points to recap what we learned before:
- Diseases caused by recessive genes usually manifest early (prenatal, childhood or adolescence) and have complete penetrance. Ex: Congenital nephrotic syndrome, Nephronophthisis, Bartter's, Cystinuria etc.
- Diseases caused by dominant genes typically manifest late (adulthood), have variable expression and incomplete penetrance. Ex: ADPKD, Liddle's, Gordon's etc.
- In polygenic diseases, genotype-phenotype correlation is weak and usually only a relative risk can be assigned to a genetic change. Ex: MYH-9, ELMO1 etc.
A nice article indeed!
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