The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes: Evidence of heterogeneity across two different European populations

Sabrina Prudente, Rosa Di Paola, Massimiliano Copetti, Daniela Lucchesi, Olga Lamacchia, Serena Pezzilli, Luana Mercuri, Federica Alberico, Laura Giusti, Monia Garofolo, Giuseppe Penno, Mauro Cignarelli, Salvatore De Cosmo, Vincenzo Trischitta

Research output: Contribution to journalArticle


Background UMOD variability has been associated at a genome-wide level of statistical significance with glomerular filtration rate (GFR) in Swedish individuals with type 2 diabetes (T2D; n = 4888). Whether this finding is extensible also to diabetic patients from other populations deserves further study. Our aim was to investigate the relationship between UMOD variability and GFR in patients with T2D from Italy. Methods Genotyping of the single nucleotide polymorphism (SNP) rs12917707 at the UMOD locus has been carried out in 3087 individuals from four independent Italian cohorts of patients with T2D by TaqMan allele discrimination. Results In none of the four study cohorts was rs12917707 significantly associated with GFR (P > 0.05 for all). Similar results were obtained when the four samples were pooled and analyzed together (β = 0.83, P = 0.19). Such effect was strikingly smaller than that previously reported in Swedish patients (P for heterogeneity = 1.21 × 10 ' '7). Conclusions The previously reported strong association between rs12917707 and GFR in diabetic patients from Sweden is not observed in Italian diabetic patients, thus clearly pointing to a heterogeneous effect across the two different samples. This suggests that UMOD is a strong genetic determinant of kidney function in patients with T2D in some, but not all, populations.

Original languageEnglish
Pages (from-to)1718-1722
Number of pages5
JournalNephrology Dialysis Transplantation
Issue number10
Publication statusPublished - Oct 1 2017



  • atherosclerosis
  • chronic kidney disease
  • diabetic nephropathy
  • genetic susceptibility
  • hypertension
  • kidney function

ASJC Scopus subject areas

  • Nephrology
  • Transplantation

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