Emilin1 gene and essential hypertension: A two-stage association study in northern Han Chinese population

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Shen, Chong ^a,b   Lu, Xiangfeng ^a   Li, Yun ^a   Zhao, Qi ^a   Liu, Xiaoli ^a   Hou, Liping ^a   Wang, Laiyuan ^a   Chen, Shufeng ^a   Huang, Jianfeng ^a   Gu, Dongfeng ^a  

^a FUWAI HOSPITAL   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

EMILIN 1; GENE PRODUCT; UNCLASSIFIED DRUG; ELASTIN MICROFIBRIL INTERFACE LOCATED PROTEIN; MEMBRANE PROTEIN;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; ESSENTIAL HYPERTENSION; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE MAP; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION BASED CASE CONTROL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; ALLELE; ASIAN; CASE CONTROL STUDY; CHINA; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HYPERTENSION; MIDDLE AGED;

ANIMALIA;

ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; HYPERTENSION; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 71549141611     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-118     Document Type: Article

References (39)

1. Staessen JA, Wang J, Bianchi G, Birkenhager WH. Essential hypertension. Lancet 2003, 361:1629-1641. 10.1016/S0140-6736(03)13302-8, 12747893.
2. Zacchigna L, Vecchione C, Notte A, Cordenonsi M, Dupont S, Maretto S, Cifelli G, Ferrari A, Maffei A, Fabbro C. Emilin1 links TGF-beta maturation to blood pressure homeostasis. Cell 2006, 124:929-942. 10.1016/j.cell.2005.12.035, 16530041.
3. Lee DS, Massaro JM, Wang TJ, Kannel WB, Benjamin EJ, Kenchaiah S, Levy D, D'Agostino RB, Vasan RS. Antecedent blood pressure, body mass index, and the risk of incident heart failure in later life. Hypertension 2007, 50:869-876. 10.1161/HYPERTENSIONAHA.107.095380, 17893376.
4. Arribas SM, Hinek A, Gonzalez MC. Elastic fibres and vascular structure in hypertension. Pharmacol Ther 2006, 111:771-791. 10.1016/j.pharmthera.2005.12.003, 16488477.
5. Argano C, Duro G, Corrao S, Di Chiara T, Nuzzo D, Colomba D, Scaglione R, Licata G. Transforming growth factor beta1 T29C gene polymorphism and hypertension: relationship with cardiovascular and renal damage. Blood Press 2008, 17:220-226. 10.1080/08037050802431416, 18821144.
6. Schiffrin EL. Remodeling of resistance arteries in essential hypertension and effects of antihypertensive treatment. Am J Hypertens 2004, 17:1192-1200. 10.1016/j.amjhyper.2004.05.023, 15607629.
7. Raman M, Cobb MH. TGF-beta regulation by Emilin1: new links in the etiology of hypertension. Cell 2006, 124:893-895. 10.1016/j.cell.2006.02.031, 16530037.
8. August P, Suthanthiran M. Transforming growth factor beta signaling, vascular remodeling, and hypertension. N Engl J Med 2006, 354:2721-2723. 10.1056/NEJMcibr062143, 16790709.
9. Zanetti M, Braghetta P, Sabatelli P, Mura I, Doliana R, Colombatti A, Volpin D, Bonaldo P, Bressan GM. EMILIN-1 deficiency induces elastogenesis and vascular cell defects. Mol Cell Biol 2004, 24:638-650. 10.1128/MCB.24.2.638-650.2004, 343785, 14701737.
10. 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. 10.1083/jcb.121.1.201, 2119774, 8458869.
11. Thomas D, Xie R, Gebregziabher M. Two-Stage sampling designs for gene association studies. Genet Epidemiol 2004, 27:401-414. 10.1002/gepi.20047, 15543639.
12. Gu D, Reynolds K, Wu X, Chen J, Duan X, Muntner P, Huang G, Reynolds RF, Su S, Whelton PK, He J. Prevalence, awareness, treatment, and control of hypertension in china. Hypertension 2002, 40:920-927. 10.1161/01.HYP.0000040263.94619.D5, 12468580.
13. Gu D, Reynolds K, Wu X, Chen J, Duan X, Reynolds RF, Whelton PK, He J. Prevalence of the metabolic syndrome and overweight among adults in China. Lancet 2005, 365:1398-1405. 10.1016/S0140-6736(05)66375-1, 15836888.
14. Perloff D, Grim C, Flack J, Frohlich ED, Hill M, McDonald M, Morgenstern BZ. Human blood pressure determination by sphygmomanometry. Circulation 1993, 88:2460-2470.
15. Lu X, Zhao W, Huang J, Li H, Yang W, Wang L, Huang W, Chen S, Gu D. Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study. Hum Genet 2007, 121:327-335. 10.1007/s00439-007-0340-4, 17318641.
16. Zhao Q, Fan Z, He J, Chen S, Li H, Zhang P, Wang L, Hu D, Huang J, Qiang B, Gu D. Renalase gene is a novel susceptibility gene for essential hypertension: a two-stage association study in northern Han Chinese population. J Mol Med 2007, 85:877-885. 10.1007/s00109-006-0151-4, 17216203.
17. Sharma P, Fatibene J, Ferraro F, Jia H, Monteith S, Brown C, Clayton D, O'Shaughnessy K, Brown MJ. A genome-wide search for susceptibility loci to human essential hypertension. Hypertension 2000, 35:1291-1296.
18. Gu D, Su S, Ge D, Chen S, Huang J, Li B, Chen R, Qiang B. Association study with 33 single-nucleotide polymorphisms in 11 candidate genes for hypertension in Chinese. Hypertension 2006, 47:1147-1154. 10.1161/01.HYP.0000219041.66702.45, 16636198.
19. Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, Lin YJ, Wang HH, Yao A, Chen YT, Hsu CN. FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res 2006, 34:W635-641. 10.1093/nar/gkl236, 1538865, 16845089.
20. Guo SW, Thompson EA. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 1992, 48:361-372. 10.2307/2532296, 1637966.
21. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006, 38:209-213. 10.1038/ng1706, 16415888.
22. Zuo Y, Zou G, Wang J, Zhao H, Liang H. Optimal two-stage design for case-control association analysis incorporating genotyping errors. Ann Hum Genet 2008, 72:375-387. 10.1111/j.1469-1809.2007.00419.x, 18215207.
23. Lake SL, Lyon H, Tantisira K, Silverman EK, Weiss ST, Laird NM, Schaid DJ. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered 2003, 55:56-65. 10.1159/000071811, 12890927.
24. Levy BI, Ambrosio G, Pries AR, Struijker-Boudier HA. Microcirculation in hypertension: a new target for treatment?. Circulation 2001, 104:735-740. 10.1161/hc3101.091158, 11489784.
25. Doliana R, Mongiat M, Bucciotti F, Giacomello E, Deutzmann R, Volpin D, Bressan GM, Colombatti A. EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins. J Biol Chem 1999, 274:16773-16781. 10.1074/jbc.274.24.16773, 10358019.
26. Beck S, Le Good JA, Guzman M, Ben Haim N, Roy K, Beermann F, Constam DB. Extraembryonic proteases regulate Nodal signalling during gastrulation. Nat Cell Biol 2002, 4:981-985. 10.1038/ncb890, 12447384.
27. Fabbro C, de Gemmis P, Braghetta P, Colombatti A, Volpin D, Bonaldo P, Bressan GM. Analysis of regulatory regions of Emilin1 gene and their combinatorial contribution to tissue-specific transcription. J Biol Chem 2005, 280:15749-15760. 10.1074/jbc.M412548200, 15705587.
28. Braghetta P, Ferrari A, De Gemmis P, Zanetti M, Volpin D, Bonaldo P, Bressan GM. Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family. Matrix Biol 2004, 22:549-556. 10.1016/j.matbio.2003.10.005, 14996434.
29. Mongiat M, Mungiguerra G, Bot S, Mucignat MT, Giacomello E, Doliana R, Colombatti A. Self-assembly and supramolecular organization of EMILIN. J Biol Chem 2000, 275:25471-25480. 10.1074/jbc.M001426200, 10821830.
30. Hamet P, Pausova Z, Adarichev V, Adaricheva K, Tremblay J. Hypertension: genes and environment. J Hypertens 1998, 16:397-418. 10.1097/00004872-199816040-00001, 9797185.
31. Bao X, Mills PJ, Rana BK, Dimsdale JE, Schork NJ, Smith DW, Rao F, Milic M, O'Connor DT, Ziegler MG. Interactive effects of common beta2-adrenoceptor haplotypes and age on susceptibility to hypertension and receptor function. Hypertension 2005, 46:301-307. 10.1161/01.HYP.0000175842.19266.95, 16027244.
32. Shi G, Gu CC, Kraja AT, Arnett DK, Myers RH, Pankow JS, Hunt SC, Rao DC. Genetic effect on blood pressure is modulated by age: the Hypertension Genetic Epidemiology Network Study. Hypertension 2009, 53:35-41. 10.1161/HYPERTENSIONAHA.108.120071, 19029486.
33. Percy CJ, Brown L, Power DA, Johnson DW, Gobe GC. Obesity and hypertension have differing oxidant handling molecular pathways in age-related chronic kidney disease. Mech Ageing Dev 2009, 130:129-138. 10.1016/j.mad.2008.10.003, 19041334.
34. Lasky-Su J, Lyon HN, Emilsson V, Heid IM, Molony C, Raby BA, Lazarus R, Klanderman B, Soto-Quiros ME, Avila L. On the replication of genetic associations: timing can be everything!. Am J Hum Genet 2008, 82:849-858. 10.1016/j.ajhg.2008.01.018, 2427263, 18387595.
35. Lunetta KL, D'Agostino RB, Karasik D, Benjamin EJ, Guo CY, Govindaraju R, Kiel DP, Kelly-Hayes M, Massaro JM, Pencina MJ. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. BMC Med Genet 2007, 8(Suppl 1):S13. 10.1186/1471-2350-8-S1-S13, 1995604, 17903295.
36. Safar ME, Lajemi M, Rudnichi A, Asmar R, Benetos A. Angiotensin-converting enzyme D/I gene polymorphism and age-related changes in pulse pressure in subjects with hypertension. Arterioscler Thromb Vasc Biol 2004, 24:782-786. 10.1161/01.ATV.0000119354.41615.33, 14751812.
37. Dao HH, Essalihi R, Bouvet C, Moreau P. Evolution and modulation of age-related medial elastocalcinosis: impact on large artery stiffness and isolated systolic hypertension. Cardiovasc Res 2005, 66:307-317. 10.1016/j.cardiores.2005.01.012, 15820199.
38. Bhatti P, Church DM, Rutter JL, Struewing JP, Sigurdson AJ. Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists. Am J Epidemiol 2006, 164:794-804. 10.1093/aje/kwj269, 16923772.
39. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265. 10.1093/bioinformatics/bth457, 15297300.