Association of intronic single-nucleotide polymorphisms in the EMILIN1 gene with essential hypertension in a Chinese population

Journal of Human Hypertension

Volumn 26, Issue 9, 2012, Pages 553-561

  Oh, V M S ^a   Chua, B M ^a   Heng, C K ^b   Yeo, S B ^a   Yim, O S ^b   Yap, E P H ^c  

^a Dept Medicine Endocrinol Diabet   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c DSO NATIONAL LABORATORIES   (Singapore)

Author keywords

blood pressure; Chinese; elastin microfibril interfacer 1; essential hypertension; genetic polymorphism; haplotype

Indexed keywords

MEMBRANE PROTEIN; PROTEIN EMILIN1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BODY MASS; CHINESE; CONTROLLED STUDY; ESSENTIAL HYPERTENSION; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OBESITY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; EXONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYPERTENSION; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84865258422     PISSN: 09509240     EISSN: 14765527     Source Type: Journal    
DOI: 10.1038/jhh.2011.68     Document Type: Article

References (39)

1. Epidemiology and Disease Control Department, Ministry of Health, Singapore. National Health Survey 2004. http://www.moh.gov.sg/mohcorp/ uploadedfiles/Publications/Reports/2005/NHS-2004(Part3).pdf (accessed 4 March 2009).
2. Chobanian AV, Prescott MF, Haudenschild CC. Recent advances in molecular pathology. The effects of hypertension on the arterial wall. Exp Mol Pathol 1984; 41: 153-169.
3. Shepherd JT. Franz Volhard lecture. Increased systemic vascular resistance and primary hypertension: the expanding complexity. J Hypertens Suppl 1990; 8: S15-S27.
4. Arribas SM, Hinek A, Gonza'lez MC. Elastic fibers and vascular structure in hypertension. Pharmacol Ther 2006; 111: 771-791.
5. Faury G, Pezet M, Knutsen RH, Boyle WA, Heximer SP, McLean SE et al. Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency. J Clin Invest 2003; 112: 1419-1428.
6. Bressan GM, Daga-Gordini D, Colombatti A, Castellani I, Marigo V, Volpin D. Emilin, a component of elastic fibers preferentially located at the elastin-microfibrils interface. J Cell Biol 1993; 121: 201-212.
7. Miriam Z, Braghetta P, Sabatelli P, Mura I, Doliana R, Colombatti A et al. Emilin-1 deficiency induces elastogenesis and vascular cell defects. Mol Cell Biol 2004; 24: 638-650.
8. Zacchigna L, Vecchione C, Notte A, Cordenonsi M, Dupont S, Maretto S et al. Emilin1 links TGF-beta maturation to blood pressure homeostasis. Cell 2006; 24: 929-942.
9. Lijnen PJ, Petrov VV, Fagard RH. Association between transforming growth factor-beta and hypertension. Am J Hypertens 2003; 6: 604-611.
10. Li B, Khanna A, Sharma V, Singh T, Suthanthiran M, August P. TGF-beta-1 DNA polymorphisms, protein levels, and blood pressure. Hypertens 1999; 33: 271-275.
11. Cambien F, Ricard S, Troesch A, Mallet C, Generenaz L, Evans A et al. Polymorphism of the transforming growth factor-beta-1 gene in relation to myocardial infarction and blood pressure: The Etude Cas-Temoin de l'Infarctur du Myocarde (ECTIM) Study. Hypertens 1996; 8: 881-887.
12. Suthanthiran M, Li B, Song JO, Ding R, Sharma VK, Schwartz JE et al. Transforming growth factor-beta-1
13. hyperexpression in African-American hypertensives: a novel mediator of hypertension and/or target organ damage. Proc Natl Acad Sci 2000; 97: 3479-3484.
14. August P, Suthanthiran M. Transforming growth factor beta signaling, vascular remodeling, and hypertension. N Engl J Med 2006; 54: 2721-2723.
15. Raman M, Cobb MH. TGF-beta regulation by Emilin1: new links in the etiology of hypertension. Cell 2006; 124: 893-895.
16. Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N et al. Association study of the elastin microfibril interface 1 (Emilin1) gene in essential hypertension. Am J Hypertens 2010; 22: 547-555.
17. Lee YW, Oh VMS, Garcia E, Taylor EA, Wu H, Yap EP et al. Haplotypes of the beta2-adrenergic receptor gene are associated with essential hypertension in a Singaporean Chinese population. J Hypertens 2004; 22: 2111-2116.
18. Epidemiology and Disease Control Department, Ministry of Health, Singapore. National Health Survey 1998. http://www.moh.gov.sg/mohcorp/ uploadedfiles/Publications/Reports/1999/nhs.pdf. (accessed 4 March 2009).
19. Caulfield M, Munroe P, Pembroke J, Samani N, Dominiczak A, Brown M et al. MRC British Genetics of Hypertension Study. Genome-wide mapping of human loci for primary hypertension. Lancet 2003; 9375: 2118-2123.
20. Chomczynski P, Sacchi N. The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: twenty-something years on. Nat Protoc 2006; 1: 581-585.
21. Zhou L, Mayers AN, Vandersteen JG, Wang L, Wittwer CT. Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye. Clin Chem 2004; 50: 1296-1298.
22. Bennett CD, Campbell MN, Cook CJ, Eyre DJ, Nay LM, Nielsen DR et al. The LightTyper: high-throughput genotyping using fluorescent melting-curve analysis. Biotechniques 2003; 34: 1288-1292.
23. Lemeshow S, Hosmer Jr DW, Klar J. Sample size requirements for studies estimating odds ratios or relative risks. Stat Med 1988; 7: 759-764.
24. Sole X, Guino E, Valls J, Iniesta R, Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006; 22: 1928-1929.
25. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
26. Sham PC, Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995; 59: 97-105.
27. Zhou L, Chen Y, Sun N, Liu X. Family history of hypertension and arterial elasticity characteristics in healthy young people. Hypertens Res 2008; 31: 833-839.
28. Goldstein IB, Shapiro D, Weiss RE. How family history and risk factors for hypertension relate to ambulatory blood pressure in healthy adults. J Hypertens 2008; 26: 276-283.
29. Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L et al. Emilin 1
30. gene and essential hypertension: a two-stage association study in a northern Han Chinese population. BMC Med Genet 2009; 10: 118.
31. http://www.illumina.com/products/human1m-duo-dna
32. analysis-beadchip-kits.ilm (accessed 18 December 2010).
33. http://www.affymetrix.com/estore/browse/products.jsp? navMode34000&productId131533&navAction
34. jump&aId productsNav#1-1 (accessed 18 December 2010).
35. http://www.affymetrix.com/browse/products.jsp? pro ductId131459& navMode34000&navActionjump
36. aIdproductsNav#1-3 (accessed 18 December 2010).
37. Cho YS, Go MJ, Kim YJ, Heo JY, Oh HJ, Ban H-J et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet 2009; 41: 527-534.
38. Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009; 41: 666-676.
39. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A et al. Genome-wide association study of blood pressure and hypertension. Nat Genet 2009; 41: 677-687.