MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
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DOI：
10.1111/j.1365-2141.2011.08832.x
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发表时间：
2011-11
影响因子：
6.5
通讯作者：
Telen MJ
中科院分区：
文献类型：
--
作者：
Ashley-Koch AE;Okocha EC;Garrett ME;Soldano K;De Castro LM;Jonassaint JC;Orringer EP;Eckman JR;Telen MJ
Renal failure occurs in 5–18% of sickle cell disease (SCD) patients and is associated with early mortality. At risk SCD patients cannot be identified prior to the appearance of proteinuria and the pathobiology is not well understood. The MYH9 and APOL1 genes have been associated with risk for focal segmental glomerulosclerosis and end-stage renal disease in African Americans. We genotyped 26 SNPs in MYH9 and 2 SNPs in APOL1 in 521 unrelated adult (18–83 years) SCD patients screened for proteinuria. Using logistic regression, SNPs were evaluated for association with proteinuria. Eight MYH9 SNPs and one APOL1 SNP were nominally associated with proteinuria. Six SNPs remained significant after multiple testing correction (p < 0.0025), and a risk haplotype was associated with proteinuria (p=0.001). Using multiple regression, association with APOL1 diminished in the presence of MYH9 SNPs. Glomerular filtration rate was negatively correlated with proteinuria (p < 0.0001), and was nominally associated with MYH9 and APOL1 in age-adjusted analyses. Our data provide insight into the pathobiology of renal dysfunction in SCD, suggesting that MYH9 is more strongly associated than APOL1. These data also provide the opportunity for early identification of patients at risk and new therapeutics.
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影响因子：
30.8
作者：
Kopp, Jeffrey B.;Smith, Michael W.;Nelson, George W.;Johnson, Randall C.;Freedman, Barry I.;Bowden, Donald W.;Oleksyk, Taras;McKenzie, Louise M.;Kajiyama, Hiroshi;Ahuja, Tejinder S.;Berns, Jeffrey S.;Briggs, William;Cho, Monique E.;Dart, Richard A.;Kimmel, Paul L.;Korbet, Stephen M.;Michel, Donna M.;Mokrzycki, Michele H.;Schelling, Jeffrey R.;Simon, Eric;Trachtman, Howard;Vlahov, David;Winkler, Cheryl A.
通讯作者：
Winkler, Cheryl A.
与MyH9相关的肾病的光谱。
DOI：
10.2215/cjn.08721209
发表时间：
2010-06
期刊：
Clinical journal of the American Society of Nephrology : CJASN
影响因子：
--
作者：
Bostrom MA;Freedman BI
通讯作者：
Freedman BI
DOI：
10.1126/science.1193032
发表时间：
2010-08-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Genovese G;Friedman DJ;Ross MD;Lecordier L;Uzureau P;Freedman BI;Bowden DW;Langefeld CD;Oleksyk TK;Uscinski Knob AL;Bernhardy AJ;Hicks PJ;Nelson GW;Vanhollebeke B;Winkler CA;Kopp JB;Pays E;Pollak MR
通讯作者：
Pollak MR
影响因子：
158.5
作者：
PLATT, OS;BRAMBILLA, DJ;KLUG, PP
通讯作者：
KLUG, PP
影响因子：
19.6
作者：
Pham, PTT;Pham, PCT;Lew, SQ
通讯作者：
Lew, SQ