Validated SNPs for eGFR and their associations with albuminuria.

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State: Public
Version: author
Serval ID
serval:BIB_420C6F9F99F1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Validated SNPs for eGFR and their associations with albuminuria.
Journal
Human Molecular Genetics
Author(s)
Ellis J.W., Chen M.H., Foster M.C., Liu C.T., Larson M.G., de Boer I., Köttgen A., Parsa A., Bochud M., Böger C.A., Kao L., Fox C.S., O'Seaghdha C.M.
Working group(s)
CKDGen Consortium, CARe Renal Consortium
Contributor(s)
Böger CA., Chen MH., Tin A., Olden M., Kottgen A., de Boer IH. , Fuchsberger C., O'Seaghdha CM., Pattaro C., Teumer A., Liu CT., Glazer NL., Li M., O'Connell JR., Tanaka T., Kutalik£££Zoltán£££ Z. , Luan£££Jian'an£££ J. , Zhao JH., Hwang SJ., Smith AV., Lohman K., de Andrade M., Hayward C., Kollerits B., Tönjes A., Aspelund T., Eiriksdottir G., Launer LJ., Harris TB., Shuldiner AR., Mitchell B., Arking DE., Boerwinkle E., Egan J., Hernandez D., Lumley T., Siscovick DS., Psaty BM., Kestenbaum B., Haritunians T., Bergmann S., Vollenweider P., Waeber G., Mooser V., Waterworth D., Meigs JB., Turner ST., Atkinson EJ., Leak TS., Aasarød K., Skorpen F., Syvänen AC., Illig T., Baumert J., Koenig W., Krämer BK., Devuyst O., Minelli C., Bakker SJ., Kedenko L., Paulweber B., Coassin S., Endlich K., Kroemer HK., Biffar R., Stracke S., Völzke H., Stumvoll M., Mägi R., Campbell H., Vitart V., Hastie ND., Gudnason V., Kardia SL., Liu Y., Polasek O., Prokopenko I., Rudan I., Parsa A., Ferrucci L., Coresh J., Shlipak MG., Wichmann H., Wareham NJ., Loos RJ., Rotter JI., Pramstaller PP., Beckmann JS., Yang Q., Heid IM., Rettig R., Bochud M., Fox CS., Kao W., Liu CT., Tin A., Kottgen A., Franceschini N., Peralta CA., de Boer IH. , Lu X., Ding J., Coresh J., Kutlar A., Bibbins-Domingo K., Siscovick D., Wyatt S., Astor B., Mychaleckjy J., Li M., Reilly MP., Townsend R., Mosley TH., Shlipak MG., Kramer H., Flessner MF., Dreisbach AW., Cupples L., Kao W., Fox CS.
ISSN
1460-2083 (Electronic)
ISSN-L
0964-6906
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
21
Number
14
Pages
3293-3298
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural
Publication Status: ppublish
Abstract
Albuminuria and reduced glomerular filtration rate are manifestations of chronic kidney disease (CKD) that predict end-stage renal disease, acute kidney injury, cardiovascular disease and death. We hypothesized that SNPs identified in association with the estimated glomerular filtration rate (eGFR) would also be associated with albuminuria. Within the CKDGen Consortium cohort (n= 31 580, European ancestry), we tested 16 eGFR-associated SNPs for association with the urinary albumin-to-creatinine ratio (UACR) and albuminuria [UACR >25 mg/g (women); 17 mg/g (men)]. In parallel, within the CARe Renal Consortium (n= 5569, African ancestry), we tested seven eGFR-associated SNPs for association with the UACR. We used a Bonferroni-corrected P-value of 0.003 (0.05/16) in CKDGen and 0.007 (0.05/7) in CARe. We also assessed whether the 16 eGFR SNPs were associated with the UACR in aggregate using a beta-weighted genotype score. In the CKDGen Consortium, the minor A allele of rs17319721 in the SHROOM3 gene, known to be associated with a lower eGFR, was associated with lower ln(UACR) levels (beta = -0.034, P-value = 0.0002). No additional eGFR-associated SNPs met the Bonferroni-corrected P-value threshold of 0.003 for either UACR or albuminuria. In the CARe Renal Consortium, there were no associations between SNPs and UACR with a P< 0.007. Although we found the genotype score to be associated with albuminuria (P= 0.0006), this result was driven almost entirely by the known SHROOM3 variant, rs17319721. Removal of rs17319721 resulted in a P-value 0.03, indicating a weak residual aggregate signal. No alleles, previously demonstrated to be associated with a lower eGFR, were associated with the UACR or albuminuria, suggesting that there may be distinct genetic components for these traits.
Keywords
Adult, African Continental Ancestry Group/genetics, Aged, Albumins/analysis, Albuminuria/genetics, Albuminuria/physiopathology, Cohort Studies, Creatinine/urine, European Continental Ancestry Group/genetics, Female, Glomerular Filtration Rate, Humans, Middle Aged, Polymorphism, Single Nucleotide
Pubmed
Web of science
Create date
23/04/2012 10:48
Last modification date
20/08/2019 14:43
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