Genome-wide association study identifies new loci for albuminuria in the Japanese population

被引：9

作者：

Okuda, Hiroshi ^{[1
,2
,3
]}

Okamoto, Koji ^{[2
,3
]}

Abe, Michiaki ^{[1
,2
,3
]}

Ishizawa, Kota ^{[1
,2
]}

Makino, Satoshi ^{[2
]}

Tanabe, Osamu ^{[2
,4
]}

Sugawara, Junichi ^{[2
]}

Hozawa, Atsushi ^{[2
]}

Tanno, Kozo ^{[5
]}

Sasaki, Makoto ^{[5
]}

Tamiya, Gen ^{[2
,6
]}

Yamamoto, Masayuki ^{[2
]}

Ito, Sadayoshi ^{[2
,3
]}

Ishii, Tadashi ^{[1
,2
]}

机构：

[1] Tohoku Univ Hosp, Dept Educ & Support Reg Med, Aoba Ku, 1-1 Seiryo Machi, Sendai, Miyagi 9808574, Japan

[2] Tohoku Univ, Tohoku Med Megabank Org, Aoba Ku, 2-1 Seiryo Machi, Sendai, Miyagi 9808573, Japan

[3] Tohoku Univ, Grad Sch Med, Dept Nephrol Endocrinol & Vasc Med, Aoba Ku, 1-1 Seiryo Machi, Sendai, Miyagi 9808574, Japan

[4] Radiat Effects Res Fdn, Minami Ku, 5-2 Hijiyama Pk, Hiroshima, Hiroshima 7320815, Japan

[5] Iwate Med Univ, Iwate Tohoku Med Megabank Org, 1-1-1 Idaidori, Yahaba, Iwate 0283694, Japan

[6] RIKEN, Ctr Adv Intelligence Project Nihonbashi, Chuo Ku, 1 Chome Mitsui Bldg 15F,103-0027, Tokyo 1030027, Japan

来源：

CLINICAL AND EXPERIMENTAL NEPHROLOGY | 2020年 / 24卷 / 08期

关键词：

QTL; GWAS; Albuminuria; Genetics; TSHR; Cohort study; KIDNEY-FUNCTION; THYROTROPIN RECEPTOR; RENAL-FUNCTION; PROTEIN; EXPRESSION; DISEASE; RISK; MICROALBUMINURIA; EXCRETION; PRKAG2;

D O I：

10.1007/s10157-020-01884-x

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Background Urinary albumin excretion (UAE) is a risk factor for cardiovascular diseases, metabolic syndrome, chronic kidney disease, etc. Only a few genome-wide association studies (GWAS) for UAE have been conducted in the European population, but not in the Asian population. Here we conducted GWAS and identified several candidate genes harboring single nucleotide polymorphisms (SNPs) responsible for UAE in the Japanese population. Methods We conducted GWAS for UAE in 7805 individuals of Asian ancestry from health-survey data collected by Tohoku Medical Megabank Organization (ToMMo) and Iwate Tohoku Medical Megabank Organization (IMM). The SNP genotype data were obtained with a SNP microarray. After imputation using a haplotype panel consisting of 2000 genome sequencing, 4,962,728 SNP markers were used for the GWAS. Results Eighteen SNPs at 14 loci (GRM7, EXOC1/NMU, LPA, STEAP1B/RAPGEF5, SEMA3D, PRKAG2, TRIQK, SERTM1, TPT1-AS1, OR5AU1, TSHR, FMN1/RYR3, COPRS, and BRD1) were associated with UAE in the Japanese individuals. A locus with particularly strong associations was observed on TSHR, chromosome 14 [rs116622332 (p = 3.99 x 10(-10))]. Conclusion In this study, we successfully identified UAE-associated variant loci in the Japanese population. Further study is required to confirm this association.

引用

页码：696 / 704

页数：9

共 47 条

[1] Association of dietary sodium and potassium intakes with albuminuria in normal-weight, overweight, and obese participants in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) Study [J].

Aaron, Kristal J. ;

Campbell, Ruth C. ;

Judd, Suzanne E. ;

Sanders, Paul W. ;

Muntner, Paul .

AMERICAN JOURNAL OF CLINICAL NUTRITION, 2011, 94 (04) :1071-1078

[2] Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy [J].

Arad, M ;

Benson, DW ;

Perez-Atayde, AR ;

McKenna, WJ ;

Sparks, EA ;

Kanter, RJ ;

McGarry, K ;

Seidman, JG ;

Seidman, CE .

JOURNAL OF CLINICAL INVESTIGATION, 2002, 109 (03) :357-362

[3] Factors associated with frequent remission of microalbuminuria in patients with type 2 diabetes [J].

Araki, S ;

Haneda, M ;

Sugimoto, T ;

Isono, M ;

Isshiki, K ;

Kashiwagi, A ;

Koya, D .

DIABETES, 2005, 54 (10) :2983-2987

[4] eGFR and Albuminuria in Relation to Risk of Incident Atrial Fibrillation A Meta-Analysis of the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Cardiovascular Health Study [J].

Bansal, Nisha ;

Zelnick, Leila R. ;

Alonso, Alvaro ;

Benjamin, Emelia J. ;

de Boer, Ian H. ;

Deo, Rajat ;

Katz, Ronit ;

Kestenbaum, Bryan ;

Mathew, Jehu ;

Robinson-Cohen, Cassianne ;

Sarnak, Mark J. ;

Shlipak, Michael G. ;

Sotoodehnia, Nona ;

Young, Bessie ;

Heckbert, Susan R. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2017, 12 (09) :1386-1398

[5] Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy:: evidence for the central role of energy compromise in disease pathogenesis [J].

Blair, E ;

Redwood, C ;

Ashrafian, H ;

Oliveira, M ;

Broxholme, J ;

Kerr, B ;

Salmon, A ;

Östman-Smith, I ;

Watkins, H .

HUMAN MOLECULAR GENETICS, 2001, 10 (11) :1215-1220

[6] CUBN Is a Gene Locus for Albuminuria [J].

Boeger, Carsten A. ;

Chen, Ming-Huei ;

Tin, Adrienne ;

Olden, Matthias ;

Koettgen, Anna ;

de Boer, Ian H. ;

Fuchsberger, Christian ;

O'Seaghdha, Conall M. ;

Pattaro, Cristian ;

Teumer, Alexander ;

Liu, Ching-Ti ;

Glazer, Nicole L. ;

Li, Man ;

O'Conne, Jeffrey R. ;

Tanaka, Toshiko ;

Peralta, Carmen A. ;

Kutalik, Zoltan ;

Luan, Jian'an ;

Zhao, Jing Hua ;

Hwang, Shih-Jen ;

Akylbekova, Ermeg ;

Kramer, Holly ;

van der Harst, Pim ;

Smith, Albert V. ;

Lohman, Kurt ;

de Andrade, Mariza ;

Hayward, Caroline ;

Kollerits, Barbara ;

Toenjes, Anke ;

Aspelund, Thor ;

Ingelsson, Erik ;

Eiriksdottir, Gudny ;

Launer, Lenore J. ;

Harris, Tamara B. ;

Shuldiner, Alan R. ;

Mitchell, Braxton D. ;

Arking, Dan E. ;

Franceschini, Nora ;

Boerwinkle, Eric ;

Egan, Josephine ;

Hernandez, Dena ;

Reilly, Muredach ;

Townsend, Raymond R. ;

Lumley, Thomas ;

Siscovick, David S. ;

Psaty, Bruce M. ;

Kestenbaum, Bryan ;

Haritunians, Talin ;

Bergmann, Sven ;

Vollenweider, Peter .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (03) :555-570

[7] Urinary albumin excretion and its relation with C-reactive protein and the metabolic syndrome in the prediction Of type 2 diabetes [J].

Brantsma, AH ;

Bakker, SJL ;

Hillege, HL ;

De Zeeuw, D ;

De Jong, PE ;

Gansevoort, RT .

DIABETES CARE, 2005, 28 (10) :2525-2530

[8] Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency [J].

Burwinkel, B ;

Scott, JW ;

Bührer, C ;

van Landeghem, FKH ;

Cox, GF ;

Wilson, CJ ;

Hardie, DG ;

Kilimann, MW .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1034-1049

[9] Imaging of persistent cAMP signaling by internalized G protein-coupled receptors [J].

Calebiro, Davide ;

Nikolaev, Viacheslav O. ;

Lohse, Martin J. .

JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2010, 45 (01) :1-8

[10] A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project [J].

Carithers, Latarsha J. ;

Ardlie, Kristin ;

Barcus, Mary ;

Branton, Philip A. ;

Britton, Angela ;

Buia, Stephen A. ;

Compton, Carolyn C. ;

DeLuca, David S. ;

Peter-Demchok, Joanne ;

Gelfand, Ellen T. ;

Guan, Ping ;

Korzeniewski, Greg E. ;

Lockhart, Nicole C. ;

Rabiner, Chana A. ;

Rao, Abhi K. ;

Robinson, Karna L. ;

Roche, Nancy V. ;

Sawyer, Sherilyn J. ;

Segre, Ayellet V. ;

Shive, Charles E. ;

Smith, Anna M. ;

Sobin, Leslie H. ;

Undale, Anita H. ;

Valentino, Kimberly M. ;

Vaught, Jim ;

Young, Taylor R. ;

Moore, Helen M. .

BIOPRESERVATION AND BIOBANKING, 2015, 13 (05) :311-319

← 1 2 3 4 5 →