Sex-Specific Effects of NLRP6/AVR and ADM Loci on Susceptibility to Essential Hypertension in a Sardinian Population

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Glorioso, Nicola ^a   Herrera, Victoria L ^b   Didishvili, Tamara ^b   Ortu, Maria F ^a   Zaninello, Roberta ^a   Fresu, Giovanni ^a   Argiolas, Guiseppe ^a   Troffa, Chiara ^a   Ruiz Opazo, Nelson ^b  

^a UNIVERSITY OF SASSARI   (Italy)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOMEDULLIN; ANGIOTENSIN VASOPRESSIN RECEPTOR; HORMONE RECEPTOR; MEMBRANE PROTEIN; NLR FAMILY PYRIN DOMAIN CONTAINING 6 PROTEIN; UNCLASSIFIED DRUG; ADM PROTEIN, HUMAN; NLRP6 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADM GENE; ADULT; AGED; ARTICLE; AVR GENE; CHROMOSOME 1; CHROMOSOME 11P; COHORT ANALYSIS; CONTROLLED STUDY; DAHL SALT SENSITIVE RAT; ESSENTIAL HYPERTENSION; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME SIZE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MOLECULAR PATHOLOGY; NLRP6 GENE; POPULATION GENETICS; QUANTITATIVE TRAIT LOCUS; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNTENY; ALLELE; CAUCASIAN; CHROMOSOME 11; DISEASE PREDISPOSITION; GENE ORDER; GENETICS; GENOTYPE; HYPERTENSION; MIDDLE AGED; ODDS RATIO;

ADRENOMEDULLIN; ADULT; AGED; ALLELES; CHROMOSOMES, HUMAN, PAIR 11; DISEASE SUSCEPTIBILITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE ORDER; GENOTYPE; HUMANS; HYPERTENSION; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ITALY; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; SEX FACTORS;

EID: 84885407835     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0077562     Document Type: Article

References (31)

1. Messerli FH, Williams B, Ritz E, (2007) Essential hypertension. Lancet 370: 591-603. doi:10.1016/S0140-6736(07)61299-9. PubMed: 17707755.
2. Pedelty L, Gorelick PB, (2008) Management of hypertension and cerebrovascular disease in the elderly. Am J Med 121: S23-S31. doi:10.1016/j.amjmed.2008.03.036. PubMed: 18638616.
3. Charchar F, Zimmerli L, Tomaszewski M, (2008) The pressure of finding human hypertension genes: new tools, old dilemmas. J Hum Hypertens 22: 821-828. doi:10.1038/jhh.2008.67. PubMed: 18633428.
4. Ehret GB, Morrison AC, O'Connor AA, Grove ML, Baird L, et al. (2008) Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program. Eur J Hum Genet 16: 1507-1511. doi:10.1038/ejhg.2008.102. PubMed: 18523456.
5. Gong M, Hubner N, (2006) Molecular genetics of human hypertension. Clin Sci 110: 315-326. doi:10.1042/CS20050208. PubMed: 16464173.
6. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, et al. (2009) Genome-wide association study of blood pressure and hypertension. Nat Genet 41: 677-687. doi:10.1038/ng.384. PubMed: 19430479.
7. Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, et al. (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41: 666-676. doi:10.1038/ng.361. PubMed: 19430483.
8. The International Consortium for Blood Pressure Genome-Wide Association Studies (2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478: 103-109.
9. the Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678. doi:10.1038/nature05911. PubMed: 17554300.
10. Herrera VL, Ruiz-Opazo N, (1990) Alteration of alpha 1 Na+,K(+)-ATPase 86Rb+ influx by a single amino acid substitution. Science 249: 1023-1026. doi:10.1126/science.1975705. PubMed: 1975705.
11. Herrera VL, Xie HX, Lopez LV, Schork NJ, Ruiz-Opazo N, (1998) The α1 Na,K-ATPase gene is a susceptibility hypertension gene in the Dahl salt-sensitiveHSD rat. J Clin Invest 102: 1102-1111. doi:10.1172/JCI3868. PubMed: 9739044.
12. Herrera VL, Tsikoudakis A, Ponce LR, Matsubara Y, Ruiz-Opazo N, (2006) Sex-specific QTLs and interacting loci underlie salt-sensitive hypertension and target organ complications in Dahl S/jrHS hypertensive rats. Physiol Genomics 26: 172-179. doi:10.1152/physiolgenomics.00285.2005. PubMed: 16720678.
13. Kaneko Y, Herrera VL, Didishvili T, Ruiz-Opazo N, (2005) Sex-specific effects of dual ET-1/ANG II receptor (Dear) variants in Dahl salt-sensitive/resistant hypertension rat model. Physiol Genomics 20: 157-164. doi:10.1152/physiolgenomics.00108.2004. PubMed: 15561758.
14. Glorioso N, Filigheddu F, Troffa C, Dettori F, Soro A, et al. (2001) Interaction of α1Na,K-ATPase and Na.K: 2Cl-cotransporter genes in human essential hypertension. Hypertension 38: 204-209.
15. Glorioso N, Herrera VL, Bagamasbad P, Filigheddu F, Troffa C, et al. (2007) Association of ATP1A1 and dear single-nucleotide polymorphism haplotypes with essential hypertension: sex-specific and haplotype-specific effects. Circ Res 100: 1522-1529. doi:10.1161/01.RES.0000267716.96196.60. PubMed: 17446437.
16. Glorioso N, Herrera VL, Didishvili T, Argiolas G, Troffa C, et al. (2011) DEspR T/CATAAAA-box promoter variant decreases DEspR transcription and is associated with increased BP in Sardinian males. Physiol Genomics 43: 1219-1225. doi:10.1152/physiolgenomics.00012.2011. PubMed: 21862670.
17. Ruiz-Opazo N, Lopez LV, Herrera VL, (2002) The dual AngII/AVP receptor gene N119S/C163R variant exhibits sodium-induced dysfunction and cosegregates with salt-sensitive hypertension in the Dahl Salt sensitive hypertensive rat model. Mol Medicine 8: 24-32.
18. Nishikimi T, (2007) Adrenomedullin in the kidney-renal physiological and pathophysiological roles. Curr Med Chem 14: 1689-1699. doi:10.2174/092986707780830943. PubMed: 17584073.
19. Wang Z, Liu Y, Liu J, Wen J, Wen S, et al. (2008) A pilot study on level of blood vasoactive factors in prehypertensive and hypertensive patients. Clin Exp Hypertens 30: 598-605. doi:10.1080/10641960802443068. PubMed: 18855263.
20. Piazza A, (1993) Who are the Europeans? Science 260: 9-11. doi:10.1126/science.260.5104.9. PubMed: 17793514.
21. Cappello N, Rendine S, Griffo R, Mameli GE, Succa V, et al. (1996) Genetic analysis of Sardinia: I. data on 12 polymorphisms in 21 linguistic domains. Ann Hum Genet 60: 125-141. doi:10.1111/j.1469-1809.1996.tb01183.x. PubMed: 8839127.
22. Chen G, Adeyemo A, Zhou J, Yuan A, Chen Y, et al. (2005) Genome scan linkage analysis comparing microsatellites and single-nucleotide polymorphisms markers for two measures of alcoholism in chromosomes 1, 4, and 7. BMC Genetics 6: S4.
23. Kauwe JS, Bertelsen S, Bierut LJ, Dunn G, Hinrichs AL, et al. (2005) The efficacy of short tandem repeat polymorphisms versus single-nucleotide polymorphisms for resolving population structure. BMC Genet 6 (Suppl 1):: S84. doi:10.1186/1471-2156-6-S1-S84. PubMed: 16451699.
24. Cao YN, Kitamura K, Kato J, Kuwasako K, Ito K, et al. (2003) Chronic salt loading upregulates expression of adrenomedullin and its receptors in adrenal glands and kidneys of the rat. Hypertension 42: 369-372. doi:10.1161/01.HYP.0000088560.10830.37. PubMed: 12913064.
25. Chao J, Chao L, (2002) The role of adrenomedullin in cardiovascular and renal function. Drug News Perspect 15: 511-518. doi:10.1358/dnp.2002.15.8.840072. PubMed: 12677190.
26. Shindo T, Kurihara Y, Nishimatsu H, Moriyama N, Kakoki M, et al. (2001) Vascular abnormalities and elevated blood pressure in mice lacking adrenomedullin gene. Circulation 104: 1964-1971. doi:10.1161/hc4101.097111. PubMed: 11602502.
27. Kobayashi Y, Nakayama T, Sato N, Izumi Y, Kokubun S, et al. (2005) Haplotype-based case-control study revealing an association between the adrenomedullin gene and proteinuria in subjects with essential hypertension. Hypertens Res 28: 229-236. doi:10.1291/hypres.28.229. PubMed: 16097366.
28. Chen S, Lu X, Zhao Q, Wang L, Li H, et al. (2013) Association of adrenomedullin gene polymorphisms and blood pressure in a Chinese population. Hypertens Res 36: 74-78. doi:10.1038/hr.2012.132. PubMed: 22932875.
29. Levy D, Hwang SJ, Kayalar A, Benjamin EJ, Vasan RS, et al. (2007) Associations of plasma natriuretic peptide, adrenomedullin, and homocysteine levels with alterations in arterial stiffness: the Framingham Heart Study. Circulation 115: 3079-3085. doi:10.1161/CIRCULATIONAHA.106.652842. PubMed: 17533184.
30. Herrera VL, Bagamasbad P, Didishvili T, Decano JL, Ruiz-Opazo N, (2008) Overlapping genes in Nalp6/PYPAF5 locus encode two V2-type vasopressin isoreceptors: angiotensin-vasopressin receptor (AVR) and non-AVR. Physiol Genomics 34: 65-77. doi:10.1152/physiolgenomics.00199.2007. PubMed: 18413781.
31. Herrera VL, Bagamasbad P, Decano JL, Ruiz-Opazo N, (2011) AVR/NAVR deficiency lowers blood pressure and differentially affects urinary concentrating ability, cognition, and anxiety-like behavior in male and female mice. Physiol Genomics 43: 32-42. doi:10.1152/physiolgenomics.00154.2010. PubMed: 20923861.