Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese

Clinical Genetics

Volumn 66, Issue 5, 2004, Pages 409-416

  Gu, Dongfeng ^a,b   Ge, D ^a,b   He, J ^c   Li, B ^d   Chen, J ^a   Liu, D ^a   Chen, R ^d  

^a FUWAI HOSPITAL   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^c TULANE UNIVERSITY MEDICAL CENTER   (United States)

^d INSTITUTE OF BIOPHYSICS   (China)

Author keywords

Association study; CYP11B2; Haplotype; Hypertension

Indexed keywords

ALDOSTERONE SYNTHASE; ANTIHYPERTENSIVE AGENT; ARGININE; CYTOSINE; LYSINE; THYMINE;

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE CONVERSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HAPLOTYPE; HUMAN; HYPERTENSION; INTRON; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; SCORING SYSTEM; SEX DIFFERENCE; STATISTICAL SIGNIFICANCE;

ALDOSTERONE SYNTHASE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS;

EID: 7244261896     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00317.x     Document Type: Article

References (37)

1. Kawamoto T, Mitsuuchi Y, Toda K et al. Role of steroid 11b-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans. Proc Natl Acad Sci USA 1992: 89: 1458-1462.
2. Curnow KM, Tusie-Luna MT, Pascoe L et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 1991: 5: 1513-1522.
3. Fardella CE, Rodriguez H, Montero J et al. Genetic variation in P450c11AS in Chilean patients with low renin hypertension. J Clin Endocrinol Metab 1996: 81: 4347-4351.
4. Brand E, Chatelain N, Mulatero P et al. Structural analysis and evaluation of the aldosterone synthase gene in hypertension. Hypertension 1998: 32: 198-204.
5. Tamaki S, Iwai N, Tsujita Y, Kinoshita M. Genetic polymorphisms of CYP11B2 gene and hypertension in Japanese. Hypertension 1999: 33 (Part II): 266-270.
6. Lim PO, Macdonald TM, Holloway C et al. Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio. J Clin Endocrinol Metab 2002: 87: 4398-4402.
7. Davies E, Kenyon CJ. CYP11B2 polymorphisms and cardiovascular risk factors. J Hypertens 2003: 21: 1249-1253.
8. Nicod J, Bruhin D, Auer L et al. A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone to renin ratio in selected hypertensive patients. J Clin Endocrinol Metab 2003: 88 (6): 2495-2500.
9. White PC, Slutsker L. Haplotype analysis of CYP11B2. Endocrinol Res 1995: 21: 437-442.
10. Clyne CD, Zhang Y, Slutsker L et al. Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements. Mol Endocrinol 1997: 11: 638-649.
11. Kupari M, Hautanen A, Lankinen L et al. Association between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass and function. Circulation 1998: 97: 569-575.
12. Komiya I, Yamada T, Takara M et al. Lys173Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. Hypertension 2000: 35: 699-703.
13. Wu X, Duan X, Gu D et al. Prevalence of hypertension and its trends in Chinese population. Int J Cardiol 1995: 52: 39-45.
14. Ge D, Yang W, Huang J et al. Linkage analysis of 2q14-q23 and 5q22 with blood pressure quantitative traits in Chinese sib pairs. J Hypertens 2003: 21: 305-310.
15. Gu D, Reynolds K, Wu X et al. Prevalence, awareness, treatment, and control of hypertension in China. Hypertension 2002: 40: 920-927.
16. Perloff D, Grim C, Flack J et al. Human blood pressure determination by sphygmomanometry. Circulation 1993: 88 (5 Part 1): 2460-2470.
17. JNC 7. Classification of blood pressure. In: The seventh report of the Joint National Committee on prevention, detection, evaluation, and treatment of high blood pressure. U.S. Department of Health and Human Services, National Institutes of Health, National Heart, Lung, and Blood Institute, 2003: 2-3.
18. Joseph S, David WR. Isolation of high-molecular-weight DNA from mammalian cells using proteinase K and phenol. In: Molecular cloning: a laboratory manual, 3rd edn (Joseph S, David WR, eds). New York: Cold Spring Harbor Laboratory Press, 2001: 6.4-6.11.
19. Davies E, Holloway CD, Ingram MC et al. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2. Hypertension 1999: 33: 703-707.
20. Xie X, Ott J. Testing linkage disequilibrium between a disease gene and marker loci. Am J Hum Genet 1993: 53 (Suppl.): 1107.
21. Zhao JH, Curtis D, Sham PC. Model-free analysis and permutation tests for allelic associations. Hum Hered 2000: 50 (2): 133-139.
22. Zapata C, Carollo C, Rodriguez S. Sampling variance and distribution of the D'measure of overall gametic disequlibrium between multiallelic loci. Ann Hum Genet 2001: 65: 395-406.
23. Schaid DJ, Rowland CM, Tines DE et al. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002: 70: 425-434.
24. Lake SL, Lyon H, Tantisira K et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered 2003: 55: 56-65.
25. Song J, Narita I, Goto S et al. Gender specific association of aldosterone synthase gene polymorphism with renal survival in patients with IgA nephropathy. J Med Genet 2003: 40: 372-376.
26. Kumar NN, Benjafield AV, Lin RC et al. Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension. J Hypertens 2003: 21: 1331-1337.
27. Reckelhoff JF, Zhang H, Granger JP. Testosterone exacerbates hypertension and reduces pressure-natriuresis in male spontaneously hypertensive rats. Hypertension 1998: 31: 435-439.
28. Reckelhoff JF, Zhang H, Srivastava K et al. Gender differences in hypertension in spontaneously hypertensive rats: role of androgens and androgen receptor. Hypertension 1999: 34: 920-923.
29. Giacche M, Vuagnat A, Hunt SC et al. Aldosterone stimulation by angiotensin II: influence of gender, plasma renin, and familial resemblance. Hypertension 2000: 35: 710-716.
30. Tsukada K, Ishimitsu T, Teranishi M et al. Positive association of CYP11B2 gene polymorphism with genetic predisposition to essential hypertension. J Hum Hypertens 2002: 16 (11): 789-793.
31. Matsubara M, Sato T, Nishimura T et al. CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study. Hypertens Res 2004: 27 (1): 1-6.
32. Hautanena A, Lankinen L, Kupari M et al. Associations between aldosterone synthase gene polymorphism and the adrenocortical function in males. J Intern Med 1998: 244 (1): 11-18.
33. Silvestre J-S, Robert V, Heymes C et al. Myocardial production of aldosterone and corticosterone in the rat. J Biol Chem 1998: 237: 4883-4891.
34. MacKenzie SM, Clark CJ, Fraser R et al. Expression of 11β-hydroxylase and aldosterone synthase genes in the rat brain. J Mol Endocrinol 2000: 24: 321-328.
35. Gomez-Sanchez CE, Zhou M, Cozza EN et al. Aldosterone biosynthesis in the rat brain. Endocrinology 1997: 138: 3369-3373.
36. Wu P, Guo Z, Zhang Y et al. Aldosterone overproduction and CYP11B2 mRNA overexpression in vessels of spontaneously hypertensive rats. Horm Res 1998: 50: 28-31.
37. Sirianni R, Seely JB, Attia G et al. Liver receptor homologue-1 is expressed in human steroidogenic tissues and activates transcription of genes encoding steroidogenic enzymes. J Endocrinol 2002: 174: R13-R17.