Abstract for presentation at 11th International Congress of Human Genetics

Polymorphisms of some candidate genes in diabetic nephropathy in Romanian population

  • Danut Cimponeriu, Institute of Genetics, University of Bucharest, Romania
  • Pompilia Apostol, Institute of Genetics, University of Bucharest, Romania
  • Cristian Serafinceanu, N Paulescu Institute, Bucharest, Romania
  • Daniela Usurelu, Institute of Genetics, University of Bucharest, Romania
  • Anne-Marie Craciun, N Paulescu Institute, Bucharest, Romania
  • Cristian Panaite, N Paulescu Institute, Bucharest, Romania
  • Lucian Gavrila, Institute of Genetics, University of Bucharest, Romania
  • Dan Cheta, N Paulescu Institute, Bucharest, Romania
  • Toma Mihai

    • Candidate gene studies have indicated that ACE (17q23), TGF-beta (19q13), VDR (12q13) and IGF2 (11p15) gene polymorphisms may be involve in DN onset or DN progression to ESRD.
    The aim of the present work was to evaluate the impact of seven polymorphisms in these genes on renal failure in type 2 diabetic patients.
    Clinical information and biological samples were collected from 99 (56M/43F) unrelated Romanian Caucasian subjects. The subjects were distributed into: H-T2DM (33 T2DM patients on hemodialysis, age: 58.5±7.8, diabetes duration: 18.1±10.7, duration of dialyses: 2.4±1.2), T2DM (33 nondialyzed T2DM patients, microalbuminuria < 30 mg/day, diabetes duration: 17.3±9.6) and C (33 healthy controls, fasting glycemia 93.2±8.2 mg/dl, microalbuminuria <30 mg/day) lots. These groups were matched for age, gender and ethnicity.
    Each patient was genotyped for ACE ID, TGF-beta -800A/G, TGF-beta -509C/T, VDR Taq, VDR Apa, VDR Fok and IGF2 Apa polymorphisms by PCR or PCR-RFLP.
    In contrast with some studies, we observed no difference between distribution of ACE ID, VDR Taq, VDR Apa, TGF- beta -800, genotypes and alleles in H-T2DM, T2DM and C groups (p>0.05). The TGF-beta -509CC (OR=2.4, CI: 0.8From the present study, performed in relative small groups, we can conclude that the TGF-beta -509CC, VDR FF and IGF2 aa genotypes could predispose to the development of ESRD in Romanian T2DM patients.

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