Session: MON 818-841-Diabetes Pathophysiology & Complications
Poster Board MON-823
Objective: To analyze whether ENPP1gene expression and protein concentration in human kidney tissue samples differs between different genotypes of K121Q polymorphism in non-diabetic subjects.
Methods: Renal biopsies and peripheral blood were collected from 107 individuals who underwent therapeutic radical nephrectomy. The genotyping of the K121Q polymorphism in these 107 samples was performed by Real-time PCR using TaqMan MGB probes. ENPP1gene expression was evaluated in a sub-group of 35 individuals (14 with the K/K genotype, 12 K/Q and 9 Q/Q) using RT-qPCR. ENPP1 protein distributions and intensities were analyzed in 67 individuals (28 K/K, 30 K/Q and 9 Q/Q) using immunohistochemistry technique. Ten fields of each sample were photographed, and the intensity of ENPP1 immunostaining was analyzed independently by two researchers using the Image Pro Plus version 4.5 program. The project was approved by the research ethics committee and patients signed an informed consent form.
Results: The genotype frequencies of the K121Q polymorphism are in Hardy-Weinberg equilibrium (P=0.076). Among the 107 patients included in the study, 10 had the K/K genotype (9.3%), 33 had the K/Q genotype (30.8%) and 64 had the K/K genotype (59.8%). The ENPP1 gene expression in the kidney did not differ significantly between Q allele carriers and subjects with the K/K genotype [10.1 (1.14 – 37.78)] vs. [7.52 (1.25 – 135.5) arbitrary units, respectively; P=0.158]. ENPP1 immunoreactivity was observed only in the distal tubules of the kidneys. Likewise gene expression data, ENPP1 immunoreactivity in kidney was not different in subjects carrying the Q allele and subjects with the K/K genotype [894.2 (187.9 – 1993.6) vs. 778.0 (89.6 – 2321.9) pixels, respectively; P=0.241].
Conclusion: These data suggest that the K121Q polymorphism is not associated with changes in ENPP1 expression in the human kidney.
Nothing to Disclose: DC, DAS, GPZ, MPC, LDAB, LHC
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