MYH9 is associated with nondiabetic end-stage renal disease in African Americans

被引：514

作者：

Kao, W. H. Linda ^{[1
,2
,3
]}

Klag, Michael J. ^{[1
,2
,3
]}

Meoni, Lucy A. ^{[2
,3
,4
,5
]}

Reich, David ^{[6
,7
,8
]}

Berthier-Schaad, Yvette ^{[1
]}

Li, Man ^{[1
]}

Coresh, Josef ^{[1
,3
,4
,5
]}

Patterson, Nick ^{[7
,8
]}

Tandon, Arti ^{[6
,7
,8
]}

Powe, Neil R. ^{[1
,2
,3
]}

Fink, Nancy E. ^{[1
,2
,3
]}

Sadler, John H. ^{[9
]}

Weir, Matthew R. ^{[9
]}

Abboud, Hanna E. ^{[10
]}

Adler, Sharon G. ^{[11
]}

Divers, Jasmin ^{[12
]}

Iyengar, Sudha K. ^{[13
]}

Freedman, Barry I. ^{[12
]}

Kimmel, Paul L. ^{[14
]}

Knowler, William C. ^{[15
]}

Kohn, Orly F. ^{[16
]}

Kramp, Kristopher ^{[13
]}

Leehey, David J. ^{[17
]}

Nicholas, Susanne B. ^{[18
]}

Pahl, Madeleine V. ^{[19
]}

Schelling, Jeffrey R. ^{[20
]}

Sedor, John R. ^{[20
,21
]}

Thornley-Brown, Denyse ^{[22
]}

Winkler, Cheryl A. ^{[23
]}

Smith, Michael W. ^{[23
]}

Parekh, Rulan S. ^{[1
,2
,3
,24
]}

机构：

[1] Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Dept Med, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Welch Ctr Prevent Epidemiol & Clin Res, Baltimore, MD 21287 USA

[4] Johns Hopkins Univ, Dept Biostat, Sch Med, Baltimore, MD 21287 USA

[5] Johns Hopkins Univ, Dept Biostat, Bloomberg Sch Publ Hlth, Baltimore, MD 21287 USA

[6] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[7] Harvard Univ, Broad Inst, Cambridge, MA 02142 USA

[8] MIT, Cambridge, MA 02142 USA

[9] Univ Maryland, Dept Med, Baltimore, MD 21201 USA

[10] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, San Antonio, TX 78229 USA

[11] Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Dept Med, Los Angeles, CA 90502 USA

[12] Wake Forest Univ, Bowman Gray Sch Med, Dept Med, Winston Salem, NC 27157 USA

[13] Case Western Reserve Univ, Sch Med, Dept Epidemiol & Biostat, Cleveland, OH 44109 USA

[14] NIDDK, NIH, Bethesda, MD 20892 USA

[15] NIDDK, Diabet Epidemiol & Clin Res Sect, NIH, Phoenix, AZ 85014 USA

[16] Loyola Univ, Dept Med, Chicago, IL 60153 USA

[17] Univ Chicago, Dept Med, Chicago, IL 60637 USA

[18] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90024 USA

[19] Univ Calif Irvine, Dept Med, Irvine, CA 92868 USA

[20] Case Western Reserve Univ, Sch Med, Dept Med, Cleveland, OH 44109 USA

[21] Case Western Reserve Univ, Sch Med, Dept Biophysiol & Biophys, Cleveland, OH 44109 USA

[22] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

[23] NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA

[24] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21287 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 10期

基金：

美国医疗保健研究与质量局; 美国国家卫生研究院;

关键词：

D O I：

10.1038/ng.232

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

As end-stage renal disease (ESRD) has a four times higher incidence in African Americans compared to European Americans, we hypothesized that susceptibility alleles for ESRD have a higher frequency in the West African than the European gene pool. We carried out a genome-wide admixture scan in 1,372 ESRD cases and 806 controls and found a highly significant association between excess African ancestry and nondiabetic ESRD (lod score = 5.70) but not diabetic ESRD (lod = 0.47) on chromosome 22q12. Each copy of the European ancestral allele conferred a relative risk of 0.50 (95% CI = 0.39-0.63) compared to African ancestry. Multiple common SNPs (allele frequencies ranging from 0.2 to 0.6) in the gene encoding nonmuscle myosin heavy chain type II isoform A (MYH9) were associated with two to four times greater risk of nondiabetic ESRD and accounted for a large proportion of the excess risk of ESRD observed in African compared to European Americans.

引用

页码：1185 / 1192

页数：8

共 35 条

[1] ADMIXTURE AS A TOOL FOR FINDING LINKED GENES AND DETECTING THAT DIFFERENCE FROM ALLELIC ASSOCIATION BETWEEN LOCI [J].

CHAKRABORTY, R ;

WEISS, KM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (23) :9119-9123

[2] Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes [J].

D'Apolito, M ;

Guarnieri, V ;

Boncristiano, M ;

Zelante, L ;

Savoia, A .

GENE, 2002, 286 (02) :215-222

[3] Genomewide linkage analysis to serum creatinine, GFR, and creatinine clearance in a community-based population: The Framingham Heart Study [J].

Fox, CS ;

Yang, Q ;

Cupples, LA ;

Guo, CY ;

Larson, MG ;

Leip, EP ;

Wilson, PWF ;

Levy, D .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2004, 15 (09) :2457-2461

[4] A second generation human haplotype map of over 3.1 million SNPs [J].

Frazer, Kelly A. ;

Ballinger, Dennis G. ;

Cox, David R. ;

Hinds, David A. ;

Stuve, Laura L. ;

Gibbs, Richard A. ;

Belmont, John W. ;

Boudreau, Andrew ;

Hardenbol, Paul ;

Leal, Suzanne M. ;

Pasternak, Shiran ;

Wheeler, David A. ;

Willis, Thomas D. ;

Yu, Fuli ;

Yang, Huanming ;

Zeng, Changqing ;

Gao, Yang ;

Hu, Haoran ;

Hu, Weitao ;

Li, Chaohua ;

Lin, Wei ;

Liu, Siqi ;

Pan, Hao ;

Tang, Xiaoli ;

Wang, Jian ;

Wang, Wei ;

Yu, Jun ;

Zhang, Bo ;

Zhang, Qingrun ;

Zhao, Hongbin ;

Zhao, Hui ;

Zhou, Jun ;

Gabriel, Stacey B. ;

Barry, Rachel ;

Blumenstiel, Brendan ;

Camargo, Amy ;

Defelice, Matthew ;

Faggart, Maura ;

Goyette, Mary ;

Gupta, Supriya ;

Moore, Jamie ;

Nguyen, Huy ;

Onofrio, Robert C. ;

Parkin, Melissa ;

Roy, Jessica ;

Stahl, Erich ;

Winchester, Ellen ;

Ziaugra, Liuda ;

Altshuler, David ;

Shen, Yan .

NATURE, 2007, 449 (7164) :851-U3

[5] THE FAMILIAL RISK OF END-STAGE RENAL-DISEASE IN AFRICAN-AMERICANS [J].

FREEDMAN, BI ;

SPRAY, BJ ;

TUTTLE, AB ;

BUCKALEW, VM .

AMERICAN JOURNAL OF KIDNEY DISEASES, 1993, 21 (04) :387-393

[6] Multiple regions within 8q24 independently affect risk for prostate cancer [J].

Haiman, Christopher A. ;

Patterson, Nick ;

Freedman, Matthew L. ;

Myers, Simon R. ;

Pike, Malcolm C. ;

Waliszewska, Alicja ;

Neubauer, Julie ;

Tandon, Arti ;

Schirmer, Christine ;

McDonald, Gavin J. ;

Greenway, Steven C. ;

Stram, Daniel O. ;

Le Marchand, Loic ;

Kolonel, Laurence N. ;

Frasco, Melissa ;

Wong, David ;

Pooler, Loreall C. ;

Ardlie, Kristin ;

Oakley-Girvan, Ingrid ;

Whittemore, Alice S. ;

Cooney, Kathleen A. ;

John, Esther M. ;

Ingles, Sue A. ;

Altshuler, David ;

Henderson, Brian E. ;

Reich, David .

NATURE GENETICS, 2007, 39 (05) :638-644

[7] Whole-genome patterns of common DNA variation in three human populations [J].

Hinds, DA ;

Stuve, LL ;

Nilsen, GB ;

Halperin, E ;

Eskin, E ;

Ballinger, DG ;

Frazer, KA ;

Cox, DR .

SCIENCE, 2005, 307 (5712) :1072-1079

[8] Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees [J].

Hunt, SC ;

Coon, H ;

Hasstedt, SI ;

Cawthon, RM ;

Camp, NJ ;

Wu, LL ;

Hopkins, PN .

AMERICAN JOURNAL OF HYPERTENSION, 2004, 17 (06) :511-515

[9] Linkage analysis of candidate loci for end-stage renal disease due to diabetic nephropathy [J].

Iyengar, SK ;

Fox, KA ;

Schachere, M ;

Manzoor, F ;

Slaughter, ME ;

Covic, AM ;

Orloff, SM ;

Hayden, PS ;

Olson, JM ;

Schelling, JR ;

Sedor, JR .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (07) :S195-S201

[10] Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly [J].

Kelley, MJ ;

Jawien, W ;

Ortel, TL ;

Korczak, JF .

NATURE GENETICS, 2000, 26 (01) :106-108

← 1 2 3 4 →