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

Abstract

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
Volume32
Issue number10
DOIs
Publication statusPublished - Oct 1 2017

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Glomerular Filtration Rate
Type 2 Diabetes Mellitus
Population
Sweden
Italy
Single Nucleotide Polymorphism
Cohort Studies
Alleles
Genome
Kidney

Keywords

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

ASJC Scopus subject areas

  • Nephrology
  • Transplantation

Cite this

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

In: Nephrology Dialysis Transplantation, Vol. 32, No. 10, 01.10.2017, p. 1718-1722.

Research output: Contribution to journalArticle

Prudente, Sabrina ; Di Paola, Rosa ; Copetti, Massimiliano ; Lucchesi, Daniela ; Lamacchia, Olga ; Pezzilli, Serena ; Mercuri, Luana ; Alberico, Federica ; Giusti, Laura ; Garofolo, Monia ; Penno, Giuseppe ; Cignarelli, Mauro ; De Cosmo, Salvatore ; Trischitta, Vincenzo. / 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. In: Nephrology Dialysis Transplantation. 2017 ; Vol. 32, No. 10. pp. 1718-1722.
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abstract = "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.",
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T2 - Evidence of heterogeneity across two different European populations

AU - Prudente, Sabrina

AU - Di Paola, Rosa

AU - Copetti, Massimiliano

AU - Lucchesi, Daniela

AU - Lamacchia, Olga

AU - Pezzilli, Serena

AU - Mercuri, Luana

AU - Alberico, Federica

AU - Giusti, Laura

AU - Garofolo, Monia

AU - Penno, Giuseppe

AU - Cignarelli, Mauro

AU - De Cosmo, Salvatore

AU - Trischitta, Vincenzo

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N2 - 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.

AB - 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.

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