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Common variants in Mendelian kidney disease genes and their association with renal function.

Tuesday,2014-04-01 11:08 America/Los_Angeles — poolea2
TitleCommon variants in Mendelian kidney disease genes and their association with renal function.
Publication TypeJournal Article
Year of Publication2013
AuthorsParsa, A, Fuchsberger, C, Köttgen, A, O'Seaghdha, CM, Pattaro, C, de Andrade, M, Chasman, DI, Teumer, A, Endlich, K, Olden, M, Chen, M-H, Tin, A, Kim, YJ, Taliun, D, Li, M, Feitosa, M, Gorski, M, Yang, Q, Hundertmark, C, Foster, MC, Glazer, N, Isaacs, A, Rao, M, Smith, AV, O'Connell, JR, Struchalin, M, Tanaka, T, Li, G, Hwang, S-J, Atkinson, EJ, Lohman, K, Cornelis, MC, Johansson, A, Tönjes, A, Dehghan, A, Couraki, V, Holliday, EG, Sorice, R, Kutalik, Z, Lehtimäki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, AY, Murgia, F, Trompet, S, Imboden, M, Kollerits, B, Pistis, G, Harris, TB, Launer, LJ, Aspelund, T, Eiriksdottir, G, Mitchell, BD, Boerwinkle, E, Schmidt, H, Hofer, E, Hu, F, Demirkan, A, Oostra, BA, Turner, ST, Ding, J, Andrews, JS, Freedman, BI, Giulianini, F, Koenig, W, Illig, T, Döring, A, Wichmann, H-E, Zgaga, L, Zemunik, T, Boban, M, Minelli, C, Wheeler, HE, Igl, W, Zaboli, G, Wild, SH, Wright, AF, Campbell, H, Ellinghaus, D, Nöthlings, U, Jacobs, G, Biffar, R, Ernst, F, Homuth, G, Kroemer, HK, Nauck, M, Stracke, S, Völker, U, Völzke, H, Kovacs, P, Stumvoll, M, Mägi, R, Hofman, A, Uitterlinden, AG, Rivadeneira, F, Aulchenko, YS, Polasek, O, Hastie, N, Vitart, V, Helmer, C, Wang, JJin, Stengel, B, Ruggiero, D, Bergmann, S, Kähönen, M, Viikari, J, Nikopensius, T, Province, M, Colhoun, H, Doney, A, Robino, A, Krämer, BK, Portas, L, Ford, I, Buckley, BM, Adam, M, Thun, G-A, Paulweber, B, Haun, M, Sala, C, Mitchell, P, Ciullo, M, Vollenweider, P, Raitakari, O, Metspalu, A, Palmer, C, Gasparini, P, Pirastu, M, J Jukema, W, Probst-Hensch, NM, Kronenberg, F, Toniolo, D, Gudnason, V, Shuldiner, AR, Coresh, J, Schmidt, R, Ferrucci, L, van Duijn, CM, Borecki, I, Kardia, SLR, Liu, Y, Curhan, GC, Rudan, I, Gyllensten, U, Wilson, JF, Franke, A, Pramstaller, PP, Rettig, R, Prokopenko, I, Witteman, J, Hayward, C, Ridker, PM, Bochud, M, Heid, IM, Siscovick, DS, Fox, CS, W Kao, L, Böger, CA
JournalJ Am Soc Nephrol
Volume24
Issue12
Pagination2105-17
Date Published2013 Dec
ISSN1533-3450
KeywordsDatabases, Genetic, European Continental Ancestry Group, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Humans, Kidney, Mendelian Randomization Analysis, Phenotype, Polymorphism, Single Nucleotide, Renal Insufficiency, Chronic
Abstract<p>Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. </p>
DOI10.1681/ASN.2012100983
Alternate JournalJ. Am. Soc. Nephrol.
PubMed ID24029420
PubMed Central IDPMC3839542
Grant ListHHSN268201100012C / HL / NHLBI NIH HHS / United States
U01HG004446 / HG / NHGRI NIH HHS / United States
N01HC55222 / HC / NHLBI NIH HHS / United States
UL1RR025005 / RR / NCRR NIH HHS / United States
M01RR16500 / RR / NCRR NIH HHS / United States
CZB/4/710 / / Chief Scientist Office / United Kingdom
HHSN268201100009I / HL / NHLBI NIH HHS / United States
U01HG004726 / HG / NHGRI NIH HHS / United States
U01GM07451804 / GM / NIGMS NIH HHS / United States
R01 DK058845 / DK / NIDDK NIH HHS / United States
K12 RR023250 / RR / NCRR NIH HHS / United States
U01 HG004728 / HG / NHGRI NIH HHS / United States
U01 HG004438 / HG / NHGRI NIH HHS / United States
N01AG12100 / AG / NIA NIH HHS / United States
P01CA087969 / CA / NCI NIH HHS / United States
U01 HG004446 / HG / NHGRI NIH HHS / United States
R01HL59367 / HL / NHLBI NIH HHS / United States
HHSN268201100010C / HL / NHLBI NIH HHS / United States
UL1 RR025005 / RR / NCRR NIH HHS / United States
N01 AG062101 / AG / NIA NIH HHS / United States
U01HG004738 / HG / NHGRI NIH HHS / United States
P01 CA087969 / CA / NCI NIH HHS / United States
HHSN268201100008C / HL / NHLBI NIH HHS / United States
U01 HL080295 / HL / NHLBI NIH HHS / United States
P01CA055075 / CA / NCI NIH HHS / United States
HHSN268201100005G / HL / NHLBI NIH HHS / United States
HL69757 / HL / NHLBI NIH HHS / United States
HHSN268201100008I / HL / NHLBI NIH HHS / United States
K12RR023250 / RR / NCRR NIH HHS / United States
U01HG004415 / HG / NHGRI NIH HHS / United States
HHSN268201100005C / / PHS HHS / United States
R01 HL043851 / HL / NHLBI NIH HHS / United States
U01 DE018993 / DE / NIDCR NIH HHS / United States
R01 HL059367 / HL / NHLBI NIH HHS / United States
U01HG004735 / HG / NHGRI NIH HHS / United States
R01 HL087660 / HL / NHLBI NIH HHS / United States
HHSN268201100007C / HL / NHLBI NIH HHS / United States
P01 CA055075 / CA / NCI NIH HHS / United States
N01 HC015103 / HC / NHLBI NIH HHS / United States
GTF06003 / / Telethon / Italy
HHSN268201100009C / / PHS HHS / United States
HHSN268201100011I / HL / NHLBI NIH HHS / United States
HHSN268201100011C / HL / NHLBI NIH HHS / United States
R01 HL086694 / HL / NHLBI NIH HHS / United States
1 R01DK07578701A1 / DK / NIDDK NIH HHS / United States
1R01AG032098-01A1 / AG / NIA NIH HHS / United States
N01HC25195 / HC / NHLBI NIH HHS / United States
R01 HL087652 / HL / NHLBI NIH HHS / United States
HHSN268200625226C / / PHS HHS / United States
U01 HG004402 / HG / NHGRI NIH HHS / United States
U01 HG004424 / HG / NHGRI NIH HHS / United States
U01HG004728 / HG / NHGRI NIH HHS / United States
U01HG004399 / HG / NHGRI NIH HHS / United States
N01 AG062106 / AG / NIA NIH HHS / United States
N01HC55222 / HL / NHLBI NIH HHS / United States
N02HL64278 / HL / NHLBI NIH HHS / United States
U01 HG004415 / HG / NHGRI NIH HHS / United States
HHSN268201100010C / / PHS HHS / United States
N01HC85086 / HL / NHLBI NIH HHS / United States
N01HC45133 / HC / NHLBI NIH HHS / United States
R01 HL105756 / HL / NHLBI NIH HHS / United States
U01HG004402 / HG / NHGRI NIH HHS / United States
U01HG004422 / HG / NHGRI NIH HHS / United States
DK66574 / DK / NIDDK NIH HHS / United States
R01 AG032098 / AG / NIA NIH HHS / United States
CA047988 / CA / NCI NIH HHS / United States
U01 HL084756 / HL / NHLBI NIH HHS / United States
U01 HG004729 / HG / NHGRI NIH HHS / United States
P30 DK063491 / DK / NIDDK NIH HHS / United States
HHSN268200782096C / HG / NHGRI NIH HHS / United States
HHSN268201100006C / HL / NHLBI NIH HHS / United States
N01HC85079 / HC / NHLBI NIH HHS / United States
HHSN268201100008C / / PHS HHS / United States
U01 HG004422 / HG / NHGRI NIH HHS / United States
HHSN268201100012C / / PHS HHS / United States
U01HG04424 / HG / NHGRI NIH HHS / United States
R01HL087641 / HL / NHLBI NIH HHS / United States
HHSN268201100005I / HL / NHLBI NIH HHS / United States
N01 AG062103 / AG / NIA NIH HHS / United States
R01HL87660 / HL / NHLBI NIH HHS / United States
U01HL072515-06 / HL / NHLBI NIH HHS / United States
U01-HL084756 / HL / NHLBI NIH HHS / United States
U01DE018993 / DE / NIDCR NIH HHS / United States
N01HC85086 / HC / NHLBI NIH HHS / United States
U01HG004423 / HG / NHGRI NIH HHS / United States
MC_PC_U127561128 / / Medical Research Council / United Kingdom
U01 HL072515 / HL / NHLBI NIH HHS / United States
R01DK058845 / DK / NIDDK NIH HHS / United States
M01 RR016500 / RR / NCRR NIH HHS / United States
HHSN268201100007C / / PHS HHS / United States
5R01HL08821502 / HL / NHLBI NIH HHS / United States
R01 CA047988 / CA / NCI NIH HHS / United States
U01HG004436 / HG / NHGRI NIH HHS / United States
M01 RR000425 / RR / NCRR NIH HHS / United States
U01HG004729 / HG / NHGRI NIH HHS / United States
U01 DE018903 / DE / NIDCR NIH HHS / United States
U01 HG004436 / HG / NHGRI NIH HHS / United States
N01HC75150 / HL / NHLBI NIH HHS / United States
U19 HL069757 / HL / NHLBI NIH HHS / United States
HHSN268201100009C / HL / NHLBI NIH HHS / United States
HHSN268201100011C / / PHS HHS / United States
N01HC75150 / HC / NHLBI NIH HHS / United States
5R01HL08770003 / HL / NHLBI NIH HHS / United States
HHSN268201100005C / HL / NHLBI NIH HHS / United States
U01 HG004735 / HG / NHGRI NIH HHS / United States
N01HC25195 / HL / NHLBI NIH HHS / United States
DK063491 / DK / NIDDK NIH HHS / United States
HHSN268201100007I / HL / NHLBI NIH HHS / United States
N01HC15103 / HC / NHLBI NIH HHS / United States
R01HL088119 / HL / NHLBI NIH HHS / United States
U01 HG004738 / HG / NHGRI NIH HHS / United States
HHSN268200782096C / / PHS HHS / United States
R01AG18728 / AG / NIA NIH HHS / United States
U01HL080295 / HL / NHLBI NIH HHS / United States
U01 HG004423 / HG / NHGRI NIH HHS / United States
N01HC85079 / HL / NHLBI NIH HHS / United States
HHSN268201100006C / / PHS HHS / United States
R01 HL087641 / HL / NHLBI NIH HHS / United States
N01HC35129 / HC / NHLBI NIH HHS / United States
RFAHG006033 / / PHS HHS / United States
N01 HC045133 / HC / NHLBI NIH HHS / United States
R01 DK066574 / DK / NIDDK NIH HHS / United States
U01 HL069757 / HL / NHLBI NIH HHS / United States
R01 AG018728 / AG / NIA NIH HHS / United States
U01 HG004399 / HG / NHGRI NIH HHS / United States
N01 HC035129 / HC / NHLBI NIH HHS / United States
5R01DK07568102 / DK / NIDDK NIH HHS / United States
5R01DK06833603 / DK / NIDDK NIH HHS / United States
R01HL086694 / HL / NHLBI NIH HHS / United States
R01 HL088119 / HL / NHLBI NIH HHS / United States
U01 HG004726 / HG / NHGRI NIH HHS / United States

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