New findings in the genomics of chronic kidney disease
Among a multitude of severe types of kidney diseases, rates are significantly higher in black individuals. This disparity can be attributed to the two genetic risk variants of the APOL1 gene on human chromosome 22. One risk variant, known as G1, consists of two amino acid substitutions near the APOL1 C terminus. The second risk variant, known as G2, is a deletion of two amino acids near the APOL1 C terminus as well. This mutation has only been found in individuals with recent West African ancestry, and has proved to be beneficial in enhancing immunity against parasitic infections, specifically Human African Trypanosomiasis that causes African Sleeping Sickness.
This study consisted of more than 8,000 individuals from Nigeria and Ghana, emphasizing the necessity for early screening of CKD, as transplants and dialysis treatments are extremely costly and rare in most regions of West Africa. These genomic differences in these populations pose greater risk of complications, such as hypertension-associated end-stage kidney failure, HIV-associated nephropathy, and other non-diabetic kidney diseases.
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