Vol 68, No 1 (2017)
Original paper
Published online: 2017-03-01

open access

Page views 1863
Article views/downloads 2537
Get Citation

Connect on Social Media

Connect on Social Media

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
Pubmed: 28255976
Endokrynol Pol 2017;68(1):13-17.


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)

Article available in PDF format

View PDF Download PDF file


  1. Kim JH, Lee CG, Lee YAh, et al. Increasing incidence of type 1 diabetes among Korean children and adolescents: analysis of data from a nationwide registry in Korea. Pediatr Diabetes. 2016; 17(7): 519–524.
  2. Gong C, Meng Xi, Jiang Y, et al. Trends in childhood type 1 diabetes mellitus incidence in Beijing from 1995 to 2010: a retrospective multicenter study based on hospitalization data. Diabetes Technol Ther. 2015; 17(3): 159–165.
  3. Diaz-Valencia PA, Bougnères P, Valleron AJ. Global epidemiology of type 1 diabetes in young adults and adults: a systematic review. BMC Public Health. 2015; 15: 255.
  4. Bjornstad P, Cherney DZ, Snell-Bergeon JK, et al. Rapid GFR decline is associated with renal hyperfiltration and impaired GFR in adults with Type 1 diabetes. Nephrol Dial Transplant. 2015; 30(10): 1706–1711.
  5. Caramori ML, Kim Y, Goldfine AB, et al. Differential Gene Expression in Diabetic Nephropathy in Individuals With Type 1 Diabetes. J Clin Endocrinol Metab. 2015; 100(6): E876–E882.
  6. Eboh C, Chowdhury TA. Management of diabetic renal disease. Ann Transl Med. 2015; 3(11): 154.
  7. Iyengar SK, Sedor JR, Freedman BI, et al. Family Investigation of Nephropathy and Diabetes (FIND). Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). PLoS Genet. 2015; 11(8): e1005352.
  8. Hadjadj S, Belloum R, Bouhanick B, et al. Prognostic value of angiotensin-I converting enzyme I/D polymorphism for nephropathy in type 1 diabetes mellitus: a prospective study. J Am Soc Nephrol. 2001; 12(3): 541–549.
  9. Parchwani DN, Kesari MG, Patel DD, et al. Influence of genetic variability at the ACE locus in intron 16 on Diabetic Nephropathy in T1DM patients. Indian J Physiol Pharmacol. 2014; 58(4): 327–337.
  10. Yu ZY, Chen LS, Zhang LC, et al. Meta-analysis of the relationship between ACE I/D gene polymorphism and end-stage renal disease in patients with diabetic nephropathy. Nephrology (Carlton). 2012; 17(5): 480–487.
  11. Martini S, Nair V, Patel SR, et al. From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy. Diabetes. 2013; 62(7): 2605–2612.
  12. Spielman RS, Ewens WJ. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet. 1996; 59(5): 983–989.
  13. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet. 1993; 52(3): 506–516.
  14. Clarkson MR, Murphy M, Gupta S, et al. High glucose-altered gene expression in mesangial cells. Actin-regulatory protein gene expression is triggered by oxidative stress and cytoskeletal disassembly. J Biol Chem. 2002; 277(12): 9707–9712.
  15. Helfman DM, Levy ET, Berthier C, et al. Caldesmon inhibits nonmuscle cell contractility and interferes with the formation of focal adhesions. Mol Biol Cell. 1999; 10(10): 3097–3112.
  16. Yamashiro S, Chern H, Yamakita Y, et al. Mutant Caldesmon lacking cdc2 phosphorylation sites delays M-phase entry and inhibits cytokinesis. Mol Biol Cell. 2001; 12(1): 239–250.
  17. Conway BR, Maxwell AP, Savage DA, et al. Association between variation in the actin-binding gene caldesmon and diabetic nephropathy in type 1 diabetes. Diabetes. 2004; 53(4): 1162–1165.
  18. Millioni R, Iori E, Lenzini L, et al. Caldesmon over-expression in type 1 diabetic nephropathy. J Diabetes Complications. 2011; 25(2): 114–121.
  19. Cortes P, Méndez M, Riser BL, et al. F-actin fiber distribution in glomerular cells: structural and functional implications. Kidney Int. 2000; 58(6): 2452–2461.
  20. Zhou X, Hurst RD, Templeton D, et al. High glucose alters actin assembly in glomerular mesangial and epithelial cells. Lab Invest. 1995; 73(3): 372–383.
  21. Millioni R, Iori E, Puricelli L, et al. Abnormal cytoskeletal protein expression in cultured skin fibroblasts from type 1 diabetes mellitus patients with nephropathy: A proteomic approach. Proteomics Clin Appl. 2008; 2(4): 492–503.