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open access

Vol 71, No 1 (2020)
Original paper
Submitted: 2019-09-04
Accepted: 2019-10-23
Published online: 2020-01-07
View PDF Download PDF file Supp./Additional Files [1]
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Association of single nucleotide polymorphism (rs741301) of the ELMO1 gene with diabetic kidney disease in Polish patients with type 2 diabetes: a pilot study

Hanna Kwiendacz1, Katarzyna Nabrdalik1, Piotr Adamczyk2, Dariusz Moczulski3, Hanna Moczulska34, Wanda Trautsolt1, Sylwia Górczyńska-Kosiorz1, Władysław Grzeszczak1, Janusz Gumprecht1
DOI: 10.5603/EP.a2019.0066
·
Pubmed: 31909452
·
Endokrynol Pol 2020;71(1):66-72.
Affiliations
  1. Department of Internal Medicine, Diabetology, and Nephrology in Zabrze, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
  2. Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
  3. Department of Internal Medicine and Nephrodiabetology, Medical University of Łódź, Łódź, Poland
  4. Department of Clinical Genetics, Medical University of Łodź, Łódź, Poland

open access

Vol 71, No 1 (2020)
Original Paper
Submitted: 2019-09-04
Accepted: 2019-10-23
Published online: 2020-01-07

Abstract

Introduction: Multifactorial pathogenesis of diabetic kidney disease (DKD) consists of a combination of metabolic, environmental, and genetic factors. A genome-wide association study has shown that ELMO1 is a candidate gene for DKD occurrence and progression. The aim of this study was to assess the association of a single nucleotide polymorphism (rs741301) of the ELMO1 gene with DKD in Polish patients with type 2 diabetes (T2DM).

Material and methods: This was a case/control study of 272 T2DM patients with or without DKD. Patients were divided into groups depending on DKD definition according to the American Diabetes Association (ADA) and the National Kidney Foundation (NKF). The association of the rs741301 polymorphism with DKD was assessed in the whole study group as well as in the subgroups stratified according to the presence of DKD.

Results: There was no association between rs741301 polymorphisms and the presence of DKD in relation to the ADA definition (p = 0.6) or the NKF definition (p = 0.5) of DKD and with estimated glomelural filtration rate (eGFR) value reflecting the stage of the chronic kidney disease (p = 0.8).

Conclusions: Even though the results of this study are negative, there is still a great need for larger studies assessing the genetic susceptibility to DKD to identify patients who are particularly prone to this complication.

Abstract

Introduction: Multifactorial pathogenesis of diabetic kidney disease (DKD) consists of a combination of metabolic, environmental, and genetic factors. A genome-wide association study has shown that ELMO1 is a candidate gene for DKD occurrence and progression. The aim of this study was to assess the association of a single nucleotide polymorphism (rs741301) of the ELMO1 gene with DKD in Polish patients with type 2 diabetes (T2DM).

Material and methods: This was a case/control study of 272 T2DM patients with or without DKD. Patients were divided into groups depending on DKD definition according to the American Diabetes Association (ADA) and the National Kidney Foundation (NKF). The association of the rs741301 polymorphism with DKD was assessed in the whole study group as well as in the subgroups stratified according to the presence of DKD.

Results: There was no association between rs741301 polymorphisms and the presence of DKD in relation to the ADA definition (p = 0.6) or the NKF definition (p = 0.5) of DKD and with estimated glomelural filtration rate (eGFR) value reflecting the stage of the chronic kidney disease (p = 0.8).

Conclusions: Even though the results of this study are negative, there is still a great need for larger studies assessing the genetic susceptibility to DKD to identify patients who are particularly prone to this complication.

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Keywords

diabetes mellitus type 2; diabetic kidney disease; ELMO1 gene; rs741301; SNP

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About this article
Title

Association of single nucleotide polymorphism (rs741301) of the ELMO1 gene with diabetic kidney disease in Polish patients with type 2 diabetes: a pilot study

Journal

Endokrynologia Polska

Issue

Vol 71, No 1 (2020)

Article type

Original paper

Pages

66-72

Published online

2020-01-07

Page views

2021

Article views/downloads

1009

DOI

10.5603/EP.a2019.0066

Pubmed

31909452

Bibliographic record

Endokrynol Pol 2020;71(1):66-72.

Keywords

diabetes mellitus type 2
diabetic kidney disease
ELMO1 gene
rs741301
SNP

Authors

Hanna Kwiendacz
Katarzyna Nabrdalik
Piotr Adamczyk
Dariusz Moczulski
Hanna Moczulska
Wanda Trautsolt
Sylwia Górczyńska-Kosiorz
Władysław Grzeszczak
Janusz Gumprecht

References (36)
  1. International Diabetes Federation. IDF Diabetes Atlas, 8th ed. Brussels 2017. https://www.diabetesatlas.org/ (30 August 2019).
  2. Kharroubi AT, Darwish HM. Diabetes mellitus: The epidemic of the century. World J Diabetes. 2015; 6(6): 850–867.
    CrossRefPubMed
  3. American Diabetes Association. 11. Microvascular Complications and Foot Care: . Diabetes Care. 2019; 42(Suppl 1): S124–S138.
    CrossRefPubMed
  4. Sharma A, Green JB, Dunning A, et al. TECOS Study Group. Causes of Death in a Contemporary Cohort of Patients With Type 2 Diabetes and Atherosclerotic Cardiovascular Disease: Insights From the TECOS Trial. Diabetes Care. 2017; 40(12): 1763–1770.
    CrossRefPubMed
  5. Wierzba W, Karnafel W, Tyszko P, et al. Assessment of the incidence rate of end-stage renal disease in patients with and without diabetes in Poland. Ann Agric Environ Med. 2018; 25(3): 568–571.
    CrossRefPubMed
  6. Persson F, Rossing P. Diagnosis of diabetic kidney disease: state of the art and future perspective. Kidney Int Suppl. 2018; 8(1): 2–7.
    CrossRefPubMed
  7. Ahlqvist E, van Zuydam NR, Groop LC, et al. The genetics of diabetic complications. Nat Rev Nephrol. 2015; 11(5): 277–287.
    CrossRefPubMed
  8. Nabrdalik K, Gumprecht J, Adamczyk P, et al. Association of rs1800471 polymorphism of TGFB1 gene with chronic kidney disease occurrence and progression and hypertension appearance. Arch Med Sci. 2013; 9(2): 230–237.
    CrossRefPubMed
  9. Buraczynska M, Baranowicz-Gaszczyk I, Borowicz E, et al. TGF-beta1 and TSC-22 gene polymorphisms and susceptibility to microvascular complications in type 2 diabetes. Nephron Physiol. 2007; 106(4): p69–p75.
    CrossRefPubMed
  10. Śnit M, Nabrdalik K, Długaszek M, et al. Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes — preliminary results of a family-based study. Endokrynol Pol. 2017; 68(1): 13–17.
    CrossRefPubMed
  11. Korzeniewska-Dyl I, Walczak K, Moczulski D. Genetic variants in SLC9A9 gene coding for soium/hydrogen exchanger 9 are not associated with diabetic kidney disease. Clin Diabetol. 2014; 3(1): 17–21.
  12. Shimazaki A, Kawamura Y, Kanazawa A, et al. Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes. 2005; 54(4): 1171–1178.
    CrossRefPubMed
  13. Doria A. Genetics of diabetes complications. Curr Diab Rep. 2010; 10(6): 467–475.
    CrossRefPubMed
  14. Chang YC, Chang EYC, Chuang LM. Recent progress in the genetics of diabetic microvascular complications. World J Diabetes. 2015; 6(5): 715–725.
    CrossRefPubMed
  15. Mooyaart AL, Valk EJJ, van Es LA, et al. Genetic associations in diabetic nephropathy: a meta-analysis. Diabetologia. 2011; 54(3): 544–553.
    CrossRefPubMed
  16. Sanui T, Inayoshi A, Noda M, et al. DOCK2 regulates Rac activation and cytoskeletal reorganization through interaction with ELMO1. Blood. 2003; 102(8): 2948–2950.
    CrossRefPubMed
  17. Grimsley CM, Kinchen JM, Tosello-Trampont AC, et al. Dock180 and ELMO1 proteins cooperate to promote evolutionarily conserved Rac-dependent cell migration. J Biol Chem. 2004; 279(7): 6087–6097.
    CrossRefPubMed
  18. deBakker CD, Haney LB, Kinchen JM, et al. Phagocytosis of apoptotic cells is regulated by a UNC-73/TRIO-MIG-2/RhoG signaling module and armadillo repeats of CED-12/ELMO. Curr Biol. 2004; 14(24): 2208–2216.
    CrossRefPubMed
  19. Sharma KR, Heckler K, Stoll SJ, et al. ELMO1 protects renal structure and ultrafiltration in kidney development and under diabetic conditions. Sci Rep. 2016; 6: 37172.
    CrossRefPubMed
  20. Leak TS, Perlegas PS, Smith SG, et al. Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans. Ann Hum Genet. 2009; 73(2): 152–159.
    CrossRefPubMed
  21. Craig DW, Millis MP, DiStefano JK. Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to Type 1 diabetes. Diabet Med. 2009; 26(11): 1090–1098.
    CrossRefPubMed
  22. Hanson RL, Millis MP, Young NJ, et al. ELMO1 variants and susceptibility to diabetic nephropathy in American Indians. Mol Genet Metab. 2010; 101(4): 383–390.
    CrossRefPubMed
  23. Kim S, Abboud HE, Pahl MV, et al. Examination of association with candidate genes for diabetic nephropathy in a Mexican American population. Clin J Am Soc Nephrol. 2010; 5(6): 1072–1078.
    CrossRefPubMed
  24. Turki A, Mzoughi S, Mtitaoui N, et al. Gender differences in the association of ELMO1 genetic variants with type 2 diabetes in Tunisian Arabs. J Endocrinol Invest. 2018; 41(3): 285–291.
    CrossRefPubMed
  25. Wu HY, Wu YH, Wang Y, et al. Association of ELMO1 gene polymorphisms with diabetic nephropathy in Chinese population. J Endocrinol Invest. 2013; 36(5): 298–302.
    CrossRefPubMed
  26. Bodhini D, Chidambaram M, Liju S, et al. Association of rs11643718 SLC12A3 and rs741301 ELMO1 Variants with Diabetic Nephropathy in South Indian Population. Ann Hum Genet. 2016; 80(6): 336–341.
    CrossRefPubMed
  27. Yadav AK, Kumar V, Dutta P, et al. Variations in CCR5, but not HFE, ELMO1, or SLC12A3, are associated with susceptibility to kidney disease in north Indian individuals with type 2 diabetes. J Diabetes. 2014; 6(6): 547–555.
    CrossRefPubMed
  28. Mehrabzadeh M, Pasalar P, Karimi M, et al. Association between ELMO1 gene polymorphisms and diabetic nephropathy in an Iranian population. J Diabetes Metab Disord. 2015; 15: 43.
    CrossRefPubMed
  29. Yahya MJ, Ismail PB, Nordin NB, et al. Association of CCL2, CCR5, ELMO1, and IL8 Polymorphism with Diabetic Nephropathy in Malaysian Type 2 Diabetic Patients. Int J Chronic Dis. 2019; 2019: 2053015.
    CrossRefPubMed
  30. KDOQI. KDOQI Clinical Practice Guidelines and Clinical Practice Recommendations for Diabetes and Chronic Kidney Disease. Am J Kidney Dis. 2007; 49(2 Suppl 2): S12–S154.
    CrossRefPubMed
  31. Araszkiewicz A, Bandurska-Stankiewicz E, Budzyński A, et al. 2019 Guidelines on the management of diabetic patients. A position of Diabetes Poland. Clin Diabetol. 2019; 8(1): 1–95.
    CrossRef
  32. Little RR, Rohlfing CL, Sacks DB, et al. National Glycohemoglobin Standardization Program (NGSP) Steering Committee. Status of hemoglobin A1c measurement and goals for improvement: from chaos to order for improving diabetes care. Clin Chem. 2011; 57(2): 205–214.
    CrossRefPubMed
  33. Pugliese G, Solini A, Bonora E, et al. The Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation provides a better definition of cardiovascular burden associated with CKD than the Modification of Diet in Renal Disease (MDRD) Study formula in subjects with type 2 diabetes. Atherosclerosis. 2011; 218(1): 194–199.
    CrossRefPubMed
  34. Fraser SD, Blakeman T. Chronic kidney disease: identification and management in primary care. Pragmat Obs Res. 2016; 7: 21–32.
    CrossRefPubMed
  35. dbSNP Short Genetic Variations – rs741301. https://www.ncbi.nlm.nih.gov/snp/rs741301#frequency_tab (Accessed 30 August 2019).
  36. Matosin N, Frank E, Engel M, et al. Negativity towards negative results: a discussion of the disconnect between scientific worth and scientific culture. Dis Model Mech. 2014; 7(2): 171–173.
    CrossRefPubMed

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