RT Journal Article
T1 Association of Candidate Gene Polymorphisms With Chronic Kidney Disease: Results of a Case-Control Analysis in the Nefrona Cohort.
A1 Valls, Joan
A1 Cambray, Serafí
A1 Pérez-Guallar, Carles
A1 Bozic, Milica
A1 Bermúdez-López, Marcelino
A1 Fernández, Elvira
A1 Betriu, Àngels
A1 Rodríguez, Isabel
A1 Valdivielso, José M
K1 chronic kidney disease
K1 genetic association study
K1 haplotype
K1 linkage disequilibrium
K1 risk factors
K1 single nucleotide polymorphism
AB Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. Therefore, new risk factors need to be identified in order to better predict the risk of CKD in the population. Here, we analyzed the genetic association of 79 SNPs of proteins associated with mineral metabolism disturbances with CKD in a cohort that includes 2,445 CKD cases and 559 controls. Genotyping was performed with matrix assisted laser desorption ionization-time of flight mass spectrometry. We used logistic regression models considering different genetic inheritance models to assess the association of the SNPs with the prevalence of CKD, adjusting for known risk factors. Eight SNPs (rs1126616, rs35068180, rs2238135, rs1800247, rs385564, rs4236, rs2248359, and rs1564858) were associated with CKD even after adjusting by sex, age and race. A model containing five of these SNPs (rs1126616, rs35068180, rs1800247, rs4236, and rs2248359), diabetes and hypertension showed better performance than models considering only clinical risk factors, significantly increasing the area under the curve of the model without polymorphisms. Furthermore, one of the SNPs (the rs2248359) showed an interaction with hypertension, being the risk genotype affecting only hypertensive patients. We conclude that 5 SNPs related to proteins implicated in mineral metabolism disturbances (Osteopontin, osteocalcin, matrix gla protein, matrix metalloprotease 3 and 24 hydroxylase) are associated to an increased risk of suffering CKD.
SN 1664-8021
YR 2019
FD 2019-02-26
LK http://hdl.handle.net/10668/13697
UL http://hdl.handle.net/10668/13697
LA en
DS RISalud
RD Apr 12, 2025