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 language | English |
|---|---|
| Pages (from-to) | 1718-1722 |
| Number of pages | 5 |
| Journal | Nephrology Dialysis Transplantation |
| Volume | 32 |
| Issue number | 10 |
| DOIs | |
| Publication status | Published - Oct 1 2017 |
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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 journal › Article
}
TY - JOUR
T1 - The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes
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
PY - 2017/10/1
Y1 - 2017/10/1
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.
KW - atherosclerosis
KW - chronic kidney disease
KW - diabetic nephropathy
KW - genetic susceptibility
KW - hypertension
KW - kidney function
UR - http://www.scopus.com/inward/record.url?scp=85030664894&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85030664894&partnerID=8YFLogxK
U2 - 10.1093/ndt/gfw262
DO - 10.1093/ndt/gfw262
M3 - Article
AN - SCOPUS:85030664894
VL - 32
SP - 1718
EP - 1722
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
SN - 0931-0509
IS - 10
ER -