Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Montasser, May E ^a,h   Shimmin, Lawrence C ^a   Gu, Dongfeng ^b   Chen, Jing ^c   Gu, Charles ^d   Kelly, Tanika N ^e   Jaquish, Cashell E ^f   Rice, Treva K ^d   Rao, Dabeeru C ^d   Cao, Jie ^b   Chen, Jichun ^b   Liu, De Pe ^g   Whelton, Paul K ^e   Hamm, Lotuce Lee ^c   He, Jiang ^e   Hixson, James E ^a  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b FUWAI HOSPITAL   (China)

^c TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e TULANE UNIVERSITY   (United States)

^f NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^g INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^h UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 1; ANGIOTENSINOGEN; CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE; EPITHELIAL SODIUM CHANNEL; G PROTEIN COUPLED RECEPTOR KINASE 4; SCNN1G PROTEIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1C; UNCLASSIFIED DRUG; ADRB2 PROTEIN, HUMAN; BETA 2 ADRENERGIC RECEPTOR; STEROID 11BETA MONOOXYGENASE;

ACE GENE; ADD1 GENE; ADULT; AGT GENE; ALLELE; ARTICLE; BLOOD PRESSURE REGULATION; CHINESE; CHRONIC KIDNEY DISEASE; CREATININE BLOOD LEVEL; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GLOMERULUS FILTRATION RATE; GRK4 GENE; HSD11B1 GENE; HUMAN; KIDNEY FUNCTION; MALE; NORMAL HUMAN; RURAL POPULATION; SCNN1G GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD PRESSURE; GENETICS; MIDDLE AGED;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD PRESSURE; GENES; GLOMERULAR FILTRATION RATE; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ADRENERGIC, BETA-2; STEROID 11-BETA-HYDROXYLASE;

EID: 84899056545     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092468     Document Type: Article

References (76)

1. Centers for Disease Control and Prevention (CDC) (2007) Prevalence of chronic kidney disease and associated risk factors-United States, 1999-2004. MMWR Morb Mortal Wkly Rep 56: 161-165.
2. Saran AM, DuBose TD Jr (2008) Cardiovascular disease in chronic kidney disease. Ther Adv Cardiovasc Dis 2: 425-434.
3. Arar NH, Voruganti VS, Nath SD, Thameem F, Bauer R, et al. (2008) A genome-wide search for linkage to chronic kidney disease in a community-based sample: The SAFHS. Nephrol Dial Transplant 23: 3184-3191.
4. Benoit G, Machuca E, Heidet L, Antignac C (2010) Hereditary kidney diseases: Highlighting the importance of classical mendelian phenotypes. Ann N Y Acad Sci 1214: 83-98.
5. Boger CA, Heid IM (2011) Chronic kidney disease: Novel insights from genome-wide association studies. Kidney Blood Press Res 34: 225-234.
6. de Borst MH, Benigni A, Remuzzi G (2008) Primer: Strategies for identifying genes involved in renal disease. Nat Clin Pract Nephrol 4: 265-276. (Pubitemid 351589733)
7. Freedman BI, Bostrom M, Daeihagh P, Bowden DW (2007) Genetic factors in diabetic nephropathy. Clin J Am Soc Nephrol 2: 1306-1316.
8. Maeda S (2008) Genetics of diabetic nephropathy. Ther Adv Cardiovasc Dis 2: 363-371.
9. Adler S (2006) Renal disease: Environment, race, or genes? Ethn Dis 16: S2-35-9.
10. Fox CS, Yang Q, Cupples LA, Guo CY, Larson MG, et al. (2004) Genomewide linkage analysis to serum creatinine, GFR, and creatinine clearance in a community-based population: The framingham heart study. J Am Soc Nephrol 15: 2457-2461. (Pubitemid 39159346)
11. Schelling JR, Abboud HE, Nicholas SB, Pahl MV, Sedor JR, et al. (2008) Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: The family investigation of nephropathy and diabetes (FIND). Diabetes 57: 235-243.
12. Basson J, Simino J, Rao DC (2012) Between candidate genes and whole genomes: Time for alternative approaches in blood pressure genetics. Curr Hypertens Rep 14: 46-61.
13. Carlson CS, Eberle MA, Kruglyak L, Nickerson DA (2004) Mapping complex disease loci in whole-genome association studies. Nature 429: 446-452. (Pubitemid 38715138)
14. Kiryluk K (2008) Quantitative genetics of renal function: Tackling complexities of the eGFR phenotype in gene mapping studies. Kidney Int 74: 1109-1112.
15. GenSalt Collaborative Research Group (2007) GenSalt: Rationale, design, methods and baseline characteristics of study participants. J Hum Hypertens 21: 639-646.
16. Rule AD, Larson TS, Bergstralh EJ, Slezak JM, Jacobsen SJ, et al. (2004) Using serum creatinine to estimate glomerular filtration rate: Accuracy in good health and in chronic kidney disease. Ann Intern Med 141: 929-937.
17. The International HapMap Consortium (2003) The international HapMap project. Nature 426: 789-796.
18. Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, et al. (2005) The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping. J Biomol Tech 16: 398-406.
19. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575. (Pubitemid 47330214)
20. O'Connell JR, Weeks DE (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63: 259-266. (Pubitemid 30428342)
21. Hinds DR (1999) The ASPEX package:Affected sib-pair exclusion mapping v1.88.
22. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) GRR: Graphical representation of relationship errors. Bioinformatics 17: 742-743. (Pubitemid 32851384)
23. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265. (Pubitemid 40202029)
24. Hanley JA, Negassa A, Edwardes MD, Forrester JE (2003) Statistical analysis of correlated data using generalized estimating equations: An orientation. Am J Epidemiol 157: 364-375. (Pubitemid 36196757)
25. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society. Series B (Methodological) 57: 289-300.
26. Lou XY, Chen GB, Yan L, Ma JZ, Zhu J, et al. (2007) A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence. Am J Hum Genet 80: 1125-1137. (Pubitemid 47579348)
27. University of California Santa Cruz (UCSC) genome browser website. Available: http://genome.ucsc.edu/, 2013.
28. Dayem Ullah AZ, Lemoine NR, Chelala C (2012) SNPnexus: A web server for functional annotation of novel and publicly known genetic variants (2012 update). Nucleic Acids Res 40: W65-70.
29. Chelala C, Khan A, Lemoine NR (2009) SNPnexus: A web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Bioinformatics 25: 655-661.
30. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
31. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
32. Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, et al. (2006) FASTSNP: An always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res 34: W635-41. (Pubitemid 44529848)
33. Phillips JK (2005) Pathogenesis of hypertension in renal failure: Role of the sympathetic nervous system and renal afferents. Clin Exp Pharmacol Physiol 32: 415-418.
34. Ritz E, Adamczak M, Zeier M (2003) Kidney and hypertension-causes. update 2003. Herz 28: 663-667.
35. Kim S, Iwao H (2000) Molecular and cellular mechanisms of angiotensin II-mediated cardiovascular and renal diseases. Pharmacol Rev 52: 11-34. (Pubitemid 30127593)
36. Ichihara A, Kobori H, Nishiyama A, Navar LG (2004) Renal renin-angiotensin system. Contrib Nephrol 143: 117-130.
37. Pereira TV, Nunes AC, Rudnicki M, Yamada Y, Pereira AC, et al. (2008) Meta-analysis of the association of 4 angiotensinogen polymorphisms with essential hypertension: A role beyond M235T? Hypertension 51: 778-783. (Pubitemid 351301535)
38. Chang HR, Cheng CH, Shu KH, Chen CH, Lian JD, et al. (2003) Study of the polymorphism of angiotensinogen, anigiotensin-converting enzyme and angiotensin receptor in type II diabetes with end-stage renal disease in Taiwan. J Chin Med Assoc 66: 51-56. (Pubitemid 37265500)
39. Ahluwalia TS, Ahuja M, Rai TS, Kohli HS, Bhansali A, et al. (2009) ACE variants interact with the RAS pathway to confer risk and protection against type 2 diabetic nephropathy. DNA Cell Biol 28: 141-150.
40. Staessen JA, Bianchi G (2005) Adducin and hypertension. Pharmacogenomics 6: 665-669. (Pubitemid 41479412)
41. Shioji K, Kokubo Y, Mannami T, Inamoto N, Morisaki H, et al. (2004) Association between hypertension and the alpha-adducin, beta1-adrenoreceptor, and G-protein beta3 subunit genes in the Japanese population; the suita study. Hypertens Res 27: 31-37. (Pubitemid 38208419)
42. Wang JG, Staessen JA, Barlassina C, Fagard R, Kuznetsova T, et al. (2002) Association between hypertension and variation in the alpha- and beta-adducin genes in a white population. Kidney Int 62: 2152-2159. (Pubitemid 35366170)
43. Ju Z, Zhang H, Sun K, Song Y, Lu H, et al. (2003) Alpha-adducin gene polymorphism is associated with essential hypertension in Chinese: A case-control and family-based study. J Hypertens 21: 1861-1868. (Pubitemid 37290104)
44. Yamagishi K, Iso H, Tanigawa T, Cui R, Kudo M, et al. (2004) Alpha-adducin G460W polymorphism, urinary sodium excretion, and blood pressure in community-based samples. Am J Hypertens 17: 385-390. (Pubitemid 38529958)
45. Bray MS, Li L, Turner ST, Kardia SL, Boerwinkle E (2000) Association and linkage analysis of the alpha-adducin gene and blood pressure. Am J Hypertens 13: 699-703. (Pubitemid 30459883)
46. Bianchi G, Ferrari P, Staessen JA (2005) Adducin polymorphism: Detection and impact on hypertension and related disorders. Hypertension 45: 331-340. (Pubitemid 40315797)
47. Huang XH, Sun K, Song Y, Zhang HY, Yang Y, et al. (2007) Association of alpha-adducin gene and G-protein beta3-subunit gene with essential hypertension in Chinese. Zhonghua Yi Xue Za Zhi 87: 1682-1684. (Pubitemid 47316234)
48. He X, Zhu DL, Chu SL, Jin L, Xiong MM, et al. (2001) Alpha-adducin gene and essential hypertension in china. Clin Exp Hypertens 23: 579-589. (Pubitemid 33029000)
49. Jose PA, Soares-da-Silva P, Eisner GM, Felder RA (2010) Dopamine and G protein-coupled receptor kinase 4 in the kidney: Role in blood pressure regulation. Biochim Biophys Acta 1802: 1259-1267.
50. Morris BJ (2009) GRK4 genetics and response to beta-blocker. Am J Hypertens 22: 235-236.
51. Harris DM, Cohn HI, Pesant S, Eckhart AD (2008) GPCR signalling in hypertension: Role of GRKs. Clin Sci (Lond) 115: 79-89.
52. Zeng C, Villar VA, Eisner GM, Williams SM, Felder RA, et al. (2008) G protein-coupled receptor kinase 4: Role in blood pressure regulation. Hypertension 51: 1449-1455.
53. Gong R, Morris DJ, Brem AS (2008) Human renal 11beta-hydroxysteroid dehydrogenase 1 functions and co-localizes with COX-2. Life Sci 82: 631-637.
54. Paterson JM, Morton NM, Fievet C, Kenyon CJ, Holmes MC, et al. (2004) Metabolic syndrome without obesity: Hepatic overexpression of 11beta-hydroxysteroid dehydrogenase type 1 in transgenic mice. Proc Natl Acad Sci U S A 101: 7088-7093. (Pubitemid 38596447)
55. Stimson RH, Walker BR (2007) Glucocorticoids and 11beta-hydroxysteroid dehydrogenase type 1 in obesity and the metabolic syndrome. Minerva Endocrinol 32: 141-159.
56. Morton NM, Seckl JR (2008) 11beta-hydroxysteroid dehydrogenase type 1 and obesity. Front Horm Res 36: 146-164.
57. Tesson F, Leenen FH (2007) Still building on candidate-gene strategy in hypertension? Hypertension 50: 607-608. (Pubitemid 47442721)
58. Busst CJ, Bloomer LD, Scurrah KJ, Ellis JA, Barnes TA, et al. (2011) The epithelial sodium channel gamma-subunit gene and blood pressure: Family based association, renal gene expression, and physiological analyses. Hypertension 58: 1073-1078.
59. Warnock DG (2001) Liddle syndrome: Genetics and mechanisms of na+ channel defects. Am J Med Sci 322: 302-307.
60. Rodriguez-Soriano J (2000) New insights into the pathogenesis of renal tubular acidosis - from functional to molecular studies. Pediatr Nephrol 14: 1121-1136.
61. Strautnieks SS, Thompson RJ, Gardiner RM, Chung E (1996) A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 13: 248-250. (Pubitemid 26000447)
62. Busst CJ, Scurrah KJ, Ellis JA, Harrap SB (2007) Selective genotyping reveals association between the epithelial sodium channel gamma-subunit and systolic blood pressure. Hypertension 50: 672-678. (Pubitemid 47442730)
63. Freel EM, Connell JM (2004) Mechanisms of hypertension: The expanding role of aldosterone. Journal of the American Society of Nephrology 15: 1993-2001. (Pubitemid 39031338)
64. Whitworth JA, Brown MA, Kelly JJ, Williamson PM (1995) Mechanisms of cortisol-induced hypertension in humans. Steroids 60: 76-80.
65. Kelly JJ, Mangos G, Williamson PM, Whitworth JA (1998) Cortisol and hypertension. Clin Exp Pharmacol Physiol Suppl 25: S51-6. (Pubitemid 28498849)
66. Dluhy RG, Lifton RP (1999) Glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 84: 4341-4344.
67. Gjesing AP, Andersen G, Burgdorf KS, Borch-Johnsen K, Jorgensen T, et al. (2007) Studies of the associations between functional beta2-adrenergic receptor variants and obesity, hypertension and type 2 diabetes in 7,808 white subjects. Diabetologia 50: 563-568. (Pubitemid 46215499)
68. Brodde OE (2008) Beta-1 and beta-2 adrenoceptor polymorphisms: Functional importance, impact on cardiovascular diseases and drug responses. Pharmacol Ther 117: 1-29.
69. Yu SF, Zhou WH, Jiang KY, Gu GZ, Wang S (2008) Job stress, gene polymorphism of beta2-AR, and prevalence of hypertension. Biomed Environ Sci 21: 239-246.
70. Ge D, Huang J, He J, Li B, Duan X, et al. (2005) beta2-adrenergic receptor gene variations associated with stage-2 hypertension in northern Han Chinese. Ann Hum Genet 69: 36-44. (Pubitemid 40202006)
71. Park HS, Shin ES, Lee JE (2008) Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents. Metabolism 57: 1064-1070. (Pubitemid 351978065)
72. Okada Y, Sim X, Go MJ, Wu JY, Gu D, et al. (2012) Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet 44: 904-909.
73. Horio M, Imai E, Yasuda Y, Watanabe T, Matsuo S (2010) Modification of the CKD epidemiology collaboration (CKD-EPI) equation for Japanese: Accuracy and use for population estimates. Am J Kidney Dis 56: 32-38.
74. Lu X, Roksnoer LC, Danser AH (2013) The intrarenal renin-angiotensin system: Does it exist? implications from a recent study in renal angiotensin-converting enzyme knockout mice. Nephrol Dial Transplant 28: 2977-2982.
75. Kobori H, Nangaku M, Navar LG, Nishiyama A (2007) The intrarenal renin-angiotensin system: From physiology to the pathobiology of hypertension and kidney disease. Pharmacol Rev 59: 251-287. (Pubitemid 47481436)
76. Zhuo JL, Ferrao FM, Zheng Y, Li XC (2013) New frontiers in the intrarenal renin-angiotensin system: A critical review of classical and new paradigms. Front Endocrinol (Lausanne) 4: 166.