open access

Vol 68, No 1 (2017)
Original papers
Published online: 2017-03-01
Submitted: 2015-12-13
Accepted: 2016-02-18
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Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes — preliminary results of a family-based study

Mirosław Śnit, Katarzyna Nabrdalik, Michał Długaszek, Janusz Gumprecht, Wanda Trautsolt, Sylwia Górczyńska-Kosiorz, Władysław Grzeszczak
DOI: 10.5603/EP.2017.0003
·
Endokrynologia Polska 2017;68(1):13-17.

open access

Vol 68, No 1 (2017)
Original papers
Published online: 2017-03-01
Submitted: 2015-12-13
Accepted: 2016-02-18

Abstract

Introduction: The worldwide growing burden of diabetes and end-stage renal disease due to diabetic nephropathy has become the reason for research looking for a single marker of chronic kidney disease development and progression that can be found in the early stages of the disease, when preventive action delaying the destructive process could be performed. The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy.

Material and methods: There was an association study of rs3807337 polymorphism of the CALD1 gene in parent-offspring trios by PCRRFLP method. Ninety-nine subjects: 33 patients with diabetic nephropathy due to type 1 diabetes and 66 of their biological parents, were examined. The mode of alleles transmission from heterozygous parents to affected offspring was determined using the transmission disequilibrium test.

Results: The allele G of rs3807337 polymorphism of the CALD1 gene was transmitted to affected offspring significantly more often than expected for no association.

Conclusions: The obtained results suggest that the genetic variability of the CALD1 gene may influence the development of diabetic nephropathy in type 1 diabetes, but further studies involving larger studied groups of patients are needed. (Endokrynol Pol 2017; 68 (1): 13–17)

Abstract

Introduction: The worldwide growing burden of diabetes and end-stage renal disease due to diabetic nephropathy has become the reason for research looking for a single marker of chronic kidney disease development and progression that can be found in the early stages of the disease, when preventive action delaying the destructive process could be performed. The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy.

Material and methods: There was an association study of rs3807337 polymorphism of the CALD1 gene in parent-offspring trios by PCRRFLP method. Ninety-nine subjects: 33 patients with diabetic nephropathy due to type 1 diabetes and 66 of their biological parents, were examined. The mode of alleles transmission from heterozygous parents to affected offspring was determined using the transmission disequilibrium test.

Results: The allele G of rs3807337 polymorphism of the CALD1 gene was transmitted to affected offspring significantly more often than expected for no association.

Conclusions: The obtained results suggest that the genetic variability of the CALD1 gene may influence the development of diabetic nephropathy in type 1 diabetes, but further studies involving larger studied groups of patients are needed. (Endokrynol Pol 2017; 68 (1): 13–17)

Get Citation

Keywords

diabetic nehropathy; type 1 diabetes; CALD1; gene polymorphism

About this article
Title

Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes — preliminary results of a family-based study

Journal

Endokrynologia Polska

Issue

Vol 68, No 1 (2017)

Pages

13-17

Published online

2017-03-01

DOI

10.5603/EP.2017.0003

Bibliographic record

Endokrynologia Polska 2017;68(1):13-17.

Keywords

diabetic nehropathy
type 1 diabetes
CALD1
gene polymorphism

Authors

Mirosław Śnit
Katarzyna Nabrdalik
Michał Długaszek
Janusz Gumprecht
Wanda Trautsolt
Sylwia Górczyńska-Kosiorz
Władysław Grzeszczak

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