Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease.
Marciana L LasterBryce RowanHua-Chang ChenTae-Hwi Schwantes-AnXin ShengPeter A FriedmanT Alp IkizlerJanet S SinshiemerJoachim H IxKatalin SusztakIan H de BoerBryan KestenbaumAdriana HungSharon M MoeFarzana PerwadCassianne Robinson-CohenPublished in: The Journal of clinical endocrinology and metabolism (2022)
We evaluated genetic variants associated with mineral metabolism markers in a CKD population. Participants with CKD and the minor allele of rs4074995 (RGS14) had lower phosphorus, lower plasma FGF23, and lower prevalence of hyperparathyroidism. The minor allele of RGS14 was also associated with lower gene expression in the kidney. Further studies are needed to elucidate the effect of rs4074995 on the pathogenesis of disordered mineral metabolism in CKD.