TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives

Journal of Hypertension

Volumn 33, Issue 6, 2015, Pages 1301-1309

  Chittani, Martina ^a   Zaninello, Roberta ^b   Lanzani, Chiara ^c   Frau, Francesca ^a   Ortu, Maria F ^b   Salvi, Erika ^a   Fresu, Giovanni ^b   Citterio, Lorena ^c   Braga, Daniele ^a   Piras, Daniela A ^b   Delli Carpini, Simona ^c   Velayutham, Dinesh ^a   Simonini, Marco ^c   Argiolas, Giuseppe ^b   Pozzoli, Simona ^c   Troffa, Chiara ^b   Glorioso, Valeria ^b   Kontula, Kimmo K ^d   Hiltunen, Timo P ^d   Donner, Kati M ^d   Turner, Stephen T ^e   Boerwinkle, Eric ^f   Chapman, Arlene B ^g   Padmanabhan, Sandosh ^h   Dominiczak, Anna F ^h   Melander, Olle ⁱ   Johnson, Julie A ^j   Cooper Dehoff, Rhonda M ^j   Gong, Yan ^j   Rivera, Natalia V ^k   Condorelli, Gianluigi ^l   Trimarco, Bruno ^m   Manunta, Paolo ^c   Cusi, Daniele ^a   Glorioso, Nicola ^b   Barlassina, Cristina ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY HOSPITAL OF SASSARI   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d UNIVERSITY OF HELSINKI   (Finland)

^e MAYO CLINIC   (United States)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF GLASGOW   (United Kingdom)

ⁱ LUND UNIVERSITY   (Sweden)

^j UNIVERSITY OF FLORIDA HEALTH   (United States)

^k KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^l UNIVERSITY OF MILAN   (Italy)

^m UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

essential hypertension; genome wide association study; genomics; pharmacogenomics; thiazides diuretics

Indexed keywords

ANKYRIN; CHLORTALIDONE; CSMD1 PROTEIN; FIBRONECTIN; HYDROCHLOROTHIAZIDE; LOSARTAN; POTASSIUM; PROTEIN; TET METHYLCYTOSINE DIOXYGENASE 2; UNCLASSIFIED DRUG; ALDOSTERONE; ANTIHYPERTENSIVE AGENT; CSMD1 PROTEIN, HUMAN; DNA BINDING PROTEIN; MEMBRANE PROTEIN; ONCOPROTEIN; TET2 PROTEIN, HUMAN; THIAZIDE DIURETIC AGENT;

ADULT; AGED; ARTICLE; CARDIAC PATIENT; CAUCASIAN; COHORT ANALYSIS; DIASTOLIC BLOOD PRESSURE; ESSENTIAL HYPERTENSION; FEMALE; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MALE; POTASSIUM BLOOD LEVEL; POTASSIUM URINE LEVEL; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); SAMPLE; SINGLE NUCLEOTIDE POLYMORPHISM; SODIUM URINE LEVEL; SYSTOLIC BLOOD PRESSURE; TREATMENT RESPONSE; BLOOD PRESSURE; CASE CONTROL STUDY; CONTROLLED STUDY; DRUG EFFECTS; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HYPERTENSION; ITALY; MIDDLE AGED; PHARMACOGENETICS; RANDOMIZED CONTROLLED TRIAL; SYSTOLE;

ADULT; AGED; ALDOSTERONE; ANTIHYPERTENSIVE AGENTS; BLOOD PRESSURE; CASE-CONTROL STUDIES; DNA-BINDING PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYDROCHLOROTHIAZIDE; HYPERTENSION; ITALY; LOSARTAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PHARMACOGENETICS; PROTO-ONCOGENE PROTEINS; SODIUM CHLORIDE SYMPORTER INHIBITORS; SYSTOLE;

EID: 84929458153     PISSN: 02636352     EISSN: 14735598     Source Type: Journal    
DOI: 10.1097/HJH.0000000000000541     Document Type: Article

References (51)

1. Mancia G, Fagard R, Narkiewicz K, Redón J, Zanchetti A, Böhm M, et al. 2013 ESH/ESC Guidelines for the management of arterial hypertension: the task force for the management of arterial hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). Eur Heart J 2013; 34:2159-2219.
2. Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL Jr, et al. The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report. JAMA 2003; 289:2560-2572.
3. Pickkers P, Garcha RS, Schachter M, Smits P, Hughes AD. Inhibition of carbonic anhydrase accounts for the direct vascular effects of hydrochlorothiazide. Hypertension 1999; 33:1043-1048.
4. Johnson JA, Turner ST. Hypertension pharmacogenomics: current status and future directions. Curr Opin Mol Ther 2005; 7:218-225.
5. Cusi D, Barlassina C, Azzani T. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997; 349:1353-1357.
6. Glorioso N, Manunta P, Filigheddu F, Troffa C, Stella P, Barlassina C, et al. The role of alpha-adducin polymorphism in blood pressure and sodium handling regulation may not be excluded by a negative association study. Hypertension 1999; 34:649-654.
7. Sciarrone MT, Stella P, Barlassina C, Manunta P, Lanzani C, Bianchi G, et al. ACE and alpha-adducin polymorphism as markers of individual response to diuretic therapy. Hypertension 2003; 41:398-403.
8. Manunta P1, Lavery G, Lanzani C, Braund PS, Simonini M, Bodycote C, et al. Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. Hypertension 2008; 52:366-372.
9. Citterio L, Lanzani C, Manunta P. Polymorphisms, hypertension and thiazide diuretics. Pharmacogenomics 2011; 12:1587-1604.
10. Glorioso N, Argiolas G, Filigheddu F, Troffa C, Cocco F, Bulla E, et al. Study Group on Cardiovascular Pharmacogenomics of Italian Society of Hypertension. Conceptual basis and methodology of the SOPHIA study. Pharmacogenomics 2007; 8:1497-1509.
11. Frau F, Zaninello R, Salvi E, Ortu MF, Braga D, Velayutham D, et al. Gwas identifies CAMK1D variants involved in blood pressure response to losartan: The SOPHIA Study. Pharmacogenomics 2014; 15:1643-1652.
12. Medical Research Council Working Party on Mild Hypertension. Course of blood pressure in mild hypertensives after withdrawal of long term antihypertensive treatment. BMJ 1986; 293:988-992.
13. Hiltunen TP, Suonsyrjä T, Hannila-Handelberg T, Paavonen KJ, Miettinen HE, Strandberg T, et al. Predictors of antihypertensive drug responses: initial data from a placebo-controlled, randomized, cross-over study with four antihypertensive drugs (The GENRES Study). Am J Hypertens 2007; 20:311-318.
14. Chapman AB, Schwartz GL, Boerwinkle E, Turner ST. Predictors of antihypertensive response to a standard dose of hydrochlorothiazide for essential hypertension. Kidney Int 2002; 6:1047-1055.
15. Hansson L, Hedner T, Lund-Johansen P, Kjeldsen SE, Lindholm LH, Syvertsen JO, et al. Randomised trial of effects of calcium antagonists compared with diuretics and beta-blockers on cardiovascular morbidity and mortality in hypertension: the Nordic Diltiazem (NORDIL) study. Lancet 2000; 356:359-365.
16. Johnson JA, Boerwinkle E, Zineh I, Chapman AB, Bailey K, Cooper-DeHoff RM, et al. Pharmacogenomics of antihypertensive drugs: rationale and design of the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) study. Am Heart J 2009; 157:442-449.
17. Rivera NV, Carreras-Torres R, Roncarati R, Viviani-Anselmi C, De Micco F, Mezzelani A, et al. Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes. BMC Med Genet 2013; 14:11.
18. De Luca N, Izzo R, Iaccarino G, Malini PL, Morisco C, Rozza F, et al. The use of a telematic connection for the follow-up of hypertensive patients improves the cardiovascular prognosis. J Hypertens 2005; 23:1417-1423.
19. Salvi E, Kutalik Z, Glorioso N, Benaglio P, Frau F, Kuznetsova T, et al. Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension 2012; 59:248-255.
20. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through prephasing. Nat Genet 2012; 44:955-959.
21. Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc 2010; 5:1564-1573.
22. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genomewide association studies. Nat Genet 2006; 38:904-909.
23. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006; 2:2074-2093.
24. Turner ST, Bailey KR, Schwartz GL, Chapman AB, Chai HS, Boerwinkle E. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. Hypertension 2012; 59:1204-1211.
25. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010; 34:816-834.
26. Li Y, Willer CJ, Sanna S, Abecasis GR. Genotype imputation. Annu Rev Genomics Hum Genet 2009; 10:387-406.
27. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010; 26:2190-2191.
28. Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009; 324:930-935.
29. Yu Z, Kong Q, Kone BC. Aldosterone reprograms promoter methylation to regulate aENaC transcription in the collecting duct. Am J Physiol Renal Physiol 2013; 305:F1006-F1013.
30. Korte S, Sträter AS, Drüppel V, Oberleithner H, Jeggle P, Grossmann C, et al. Feedforward activation of endothelial ENaC by high sodium. FASEB J 2014; [Epub ahead of print].
31. Kusche-Vihrog K, Jeggle P, Oberleithner H. The role of ENaC in vascular endothelium. Pflugers Arch 2014; 466:851-859.
32. Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Analysis of the human VPS13 gene family. Genomics 2004; 84:536-549.
33. Kristiansen M, Kozyraki R, Jacobsen C, Nexø E, Verroust PJ, Moestrup SK. Molecular dissection of the intrinsic factor-vitamin B12 receptor, cubilin, discloses regions important for membrane association and ligand binding. J Biol Chem 1999; 274:20540-20544.
34. Lau WL, Scholnick SB. Identification of two new members of the CSMD gene family. Genomics 2003; 82:412-415.
35. Koriyama H, Nakagami H, Katsuya T, Sugimoto K, Yamashita H, Takami Y, et al. Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population. J Atheroscler Thromb 2010; 17:1054-1062.
36. Nock NL, Wang X, Thompson CL, Song Y, Baechle D, Raska P, et al. Defining genetic determinants of the Metabolic Syndrome in the Framingham Heart Study using association and structural equation modelling methods. BMC Proc 2009; 3 (Suppl 7):S50.
37. Hong KW, Go MJ, Jin HS, Lim JE, Lee JY, Han BG, et al. Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. J Hum Hypertens 2010; 24:367-372.
38. Takeda Y, Seko A, Hachisu M, Daikoku S, Izumi M, Koizumi A, et al. Both isoforms of human UDP-glucose: glycoprotein glucosyltransferase are enzymatically active. Glycobiology 2014; 24:344-350.
39. Turner ST, Schwartz GL, Chapman AB, Boerwinkle E. C825T polymorphism of the G-protein b(3)-subunit and antihypertensive response to a thiazide diuretic. Hypertension 2001; 37:739-743.
40. Schwartz GL, Turner ST, Chapman AB, Boerwinkle E. Interacting effects of gender and genotype on blood pressure response to hydrochlorothiazide. Kidney Int 2002; 62:1718-1723.
41. Turner ST, Chapman AB, Schwartz GL, Boerwinkle E. Effects of endothelial nitric oxide synthase, a-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide. Am J Hypertens 2003; 16:834-839.
42. Turner ST, Schwartz GL, Chapman AB, Boerwinkle E. WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. Hypertension 2005; 46:758-765.
43. Luo F, Wang Y, Wang X, Sun K, Zhou X, Hui R. A functional variant of NEDD4L is associated with hypertension, antihypertensive response, and orthostatic hypotension. Hypertension 2009; 54:796-801.
44. Duarte JD, Lobmeyer MT, Wang Z, Chapman AB, Gums JG, Langaee TY, et al. Lack of association between polymorphisms in STK39, a putative thiazide response gene, and blood pressure response to hydrochlorothiazide. Pharmacogenet Genom 2010; 20:516-519.
45. Wang Y, O'Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ, et al. From the cover: whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106:226-231.
46. Han YF, Fan XH, Wang XJ, Sun K, Xue H, Li WJ, et al. Association of intergenic polymorphism of organic anion transporter 1 and 3 genes with hypertension and blood pressure response to hydrochlorothiazide. Am J Hypertens 2010; 24:340-346.
47. Lobmeyer MT, Wang L, Zineh I, Turner ST, Gums JG, Chapman AB, et al. Polymorphisms in genes coding for GRK2 and GRK5 and response differences in antihypertensive-treated patients. Pharmacogenet Genom 2011; 21:42-49.
48. Turner ST, Bailey KR, Fridley BL, Chapman AB, Schwartz GL, Chai HS, et al. Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic. Hypertension 2008; 52:359-365.
49. Duarte JD, Zineh I, Burkley B, Gong Y, Langaee TY, Turner ST, et al. Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide. J Transl Med 2012; 10:56.
50. McDonough CW, Burbage SE, Duarte JD, Gong Y, Langaee TY, Turner ST, et al. Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics. J Hypertens 2013; 31:698-704.
51. Turner ST, Boerwinkle E, O'Connell JR, Bailey KR, Gong Y, Chapman AB, et al. Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide. Hypertension 2013; 62:391-397.