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2017 ; 28
(3
): 981-994
Nephropedia Template TP
gab.com Text
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SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate
Kidney Development and Function
#MMPMID27920155
Li M
; Li Y
; Weeks O
; Mijatovic V
; Teumer A
; Huffman JE
; Tromp G
; Fuchsberger C
; Gorski M
; Lyytikäinen LP
; Nutile T
; Sedaghat S
; Sorice R
; Tin A
; Yang Q
; Ahluwalia TS
; Arking DE
; Bihlmeyer NA
; Böger CA
; Carroll RJ
; Chasman DI
; Cornelis MC
; Dehghan A
; Faul JD
; Feitosa MF
; Gambaro G
; Gasparini P
; Giulianini F
; Heid I
; Huang J
; Imboden M
; Jackson AU
; Jeff J
; Jhun MA
; Katz R
; Kifley A
; Kilpeläinen TO
; Kumar A
; Laakso M
; Li-Gao R
; Lohman K
; Lu Y
; Mägi R
; Malerba G
; Mihailov E
; Mohlke KL
; Mook-Kanamori DO
; Robino A
; Ruderfer D
; Salvi E
; Schick UM
; Schulz CA
; Smith AV
; Smith JA
; Traglia M
; Yerges-Armstrong LM
; Zhao W
; Goodarzi MO
; Kraja AT
; Liu C
; Wessel J
; Boerwinkle E
; Borecki IB
; Bork-Jensen J
; Bottinger EP
; Braga D
; Brandslund I
; Brody JA
; Campbell A
; Carey DJ
; Christensen C
; Coresh J
; Crook E
; Curhan GC
; Cusi D
; de Boer IH
; de Vries AP
; Denny JC
; Devuyst O
; Dreisbach AW
; Endlich K
; Esko T
; Franco OH
; Fulop T
; Gerhard GS
; Glümer C
; Gottesman O
; Grarup N
; Gudnason V
; Hansen T
; Harris TB
; Hayward C
; Hocking L
; Hofman A
; Hu FB
; Husemoen LL
; Jackson RD
; Jørgensen T
; Jørgensen ME
; Kähönen M
; Kardia SL
; König W
; Kooperberg C
; Kriebel J
; Launer LJ
; Lauritzen T
; Lehtimäki T
; Levy D
; Linksted P
; Linneberg A
; Liu Y
; Loos RJ
; Lupo A
; Meisinger C
; Melander O
; Metspalu A
; Mitchell P
; Nauck M
; Nürnberg P
; Orho-Melander M
; Parsa A
; Pedersen O
; Peters A
; Peters U
; Polasek O
; Porteous D
; Probst-Hensch NM
; Psaty BM
; Qi L
; Raitakari OT
; Reiner AP
; Rettig R
; Ridker PM
; Rivadeneira F
; Rossouw JE
; Schmidt F
; Siscovick D
; Soranzo N
; Strauch K
; Toniolo D
; Turner ST
; Uitterlinden AG
; Ulivi S
; Velayutham D
; Völker U
; Völzke H
; Waldenberger M
; Wang JJ
; Weir DR
; Witte D
; Kuivaniemi H
; Fox CS
; Franceschini N
; Goessling W
; Köttgen A
; Chu AY
J Am Soc Nephrol
2017[Mar]; 28
(3
): 981-994
PMID27920155
show ga
Genome-wide association studies have identified >50 common variants associated
with kidney function, but these variants do not fully explain the variation in
eGFR. We performed a two-stage meta-analysis of associations between genotypes
from the Illumina exome array and eGFR on the basis of serum creatinine
(eGFRcrea) among participants of European ancestry from the CKDGen Consortium
(n(Stage1): 111,666; n(Stage2): 48,343). In single-variant analyses, we
identified single nucleotide polymorphisms at seven new loci associated with
eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L;
P(Stage1)<3.7×10(-7)), of which most were common and annotated as nonsynonymous
variants. Gene-based analysis identified associations of functional rare variants
in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho
guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4×10(-8) by sequence kernel
association test). Experimental follow-up in zebrafish embryos revealed changes
in glomerular gene expression and renal tubule morphology in the embryonic kidney
of acp1- and sos2-knockdowns. These developmental abnormalities associated with
altered blood clearance rate and heightened prevalence of edema. This study
expands the number of loci associated with kidney function and identifies novel
genes with potential roles in kidney formation.
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