Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages 81-

  Mocci, Evelina ^a   Concas, Maria P ^b   Fanciulli, Manuela ^a   Pirastu, Nicola ^a   Adamo, Mauro ^a   Cabras, Valentina ^a   Fraumene, Cristina ^a   Persico, Ivana ^b   Sassu, Alessandro ^a   Picciau, Andrea ^a   Prodi, Dionigio A ^a   Serra, Donatella ^a   Biino, Ginevra ^a,b   Pirastu, Mario ^a,b   Angius, Andrea ^a,b  

^a Shardna Life Sciences   (Italy)

^b CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 2Q; ESSENTIAL HYPERTENSION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; ITALY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; FEMALE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HYPERTENSION; MALE; MIDDLE AGED; PEDIGREE;

MICROSATELLITE DNA;

ADULT; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPERTENSION; ITALY; LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70149084369     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-81     Document Type: Article

References (56)

1. Kearney PM, Whelton M, Reynolds K, Muntner P, Whelton PK, He J. Global burden of hypertension: analysis of worldwide data. Lancet 2005, 365:217-223.
2. Chockalingam A, Campbell NR, Fodor JG. Worldwide epidemic of hypertension. Can J Cardiol 2006, 22(7):553-5. 2560860, 16755308.
3. Schiffrin EL, Lipman ML, Mann JF. Chronic kidney disease: effects on the cardiovascular system. Circulation 2007, 116(1):85-97. 10.1161/CIRCULATIONAHA.106.678342, 17606856.
4. Ward R. Familial aggregation and genetic epidemiology of blood pressure. Hypertension: pathophysiology, diagnosis and management 1980, 81-89. Raven Press, New York, Laragh JH, Brenner BM.
5. Cowley AW. The genetic dissection of essential hypertension. Nat Rev Genet 2006, 7(11):829-40. 10.1038/nrg1967, 17033627.
6. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001, 104:545-556. 10.1016/S0092-8674(01)00241-0, 11239411.
7. Lalouel JM. Large-scale search for genes predisposing to essential hypertension. Am J Hypertens 2003, 16:163-166. 10.1016/S0895-7061(02)03201-6, 12559687.
8. Lee WK, Padmanabhan S, Dominiczak AF. Genetics of hypertension: from experimental models to clinical applications. J Hum Hypertens 2000, 14:631-647. 10.1038/sj.jhh.1001043, 11095156.
9. Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447(7145):661-78. 10.1038/nature05911, 2719288, 17554300.
10. Wang Y, O'Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ, Shi X, Pan L, Rampersaud E, Shen H. From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009, 106(1):226-31. 10.1073/pnas.0808358106, 2629209, 19114657.
11. Garcia EA, Newhouse S, Caulfield MJ, Munroe PB. Genes and hypertension. Curr Pharm 2003, 9:1679-1689.
12. Samani NJ. Genome scans for hypertension and blood pressure regulation. Am J Hypertens 2003, 16:167-171. 10.1016/S0895-7061(02)03244-2, 12559688.
13. Marcano AC, Onipinla AK, Caulfield MJ, Munroe PB. Recent advances in the identification of genes for human hypertension. Expert Rev Cardiovasc Ther 2005, 3(4):733-41. 10.1586/14779072.3.4.733, 16076282.
14. Bourgain C. Comparing strategies for association mapping in samples with related individuals. BMC Genet 2005, 6:S1-S98. 10.1186/1471-2156-6-S1-S98, 1866841, 16451554.
15. Wright AF, Carothers AD, Pirastu M. Population choice in mapping genes for complex diseases. Nat Genet 1999, 23:397-404. 10.1038/70501, 10581024.
16. Bonnen PE, Peter I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE. Evaluating potential for whole - genome studies in Kosrae, an isolated population in Micronesia. Nat Genet 2006, 38:214-217. 10.1038/ng1712, 16429162.
17. Fraumene C, Petretto E, Angius A, Pirastu M. Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Hum Genet 2003, 114:1-10. 10.1007/s00439-003-1008-3, 13680359.
18. Angius A, Hyland FC, Persico I, Pirastu N, Woodage T, Pirastu M, De la Vega FM. Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies. Hum Hered 2008, 65:9-22. 10.1159/000106058, 17652959.
19. Pistis G, Piras I, Pirastu N, Persico I, Sassu A, Picciau A, Prodi DA, Fraumene C, Mocci E, Manias T. Extreme differentiation between eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. PLoS ONE 2009, 4(2):e4654. 10.1371/journal.pone.0004654, 2646134, 19247500.
20. Cavalli-Sforza LL, Menozzi P, Piazza A. The history and geography of human genes. 1996, 413. Princeton (New Jersey): Princeton University Press.
21. Mancosu G, Cosso M, Marras F, Borlino CC, Ledda G, Manias T, Adamo M, Serra D, Melis P, Pirastu M. Browsing isolated population data. BMC Bioinformatics 2005, 6(Suppl 4):S17. 10.1186/1471-2105-6-S4-S17, 1866391, 16351743.
22. Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL, Jones DW, Materson BJ, Oparil S, Wright JT. Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension 2003, 42(6):1206. 10.1161/01.HYP.0000107251.49515.c2, 14656957.
23. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998, 63(1):259-66. 10.1086/301904, 1377228, 9634505.
24. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30(1):97-101. 10.1038/ng786, 11731797.
25. Whittemore AS, Halpern J. Probability of gene identity by descent: computation and applications. Biometrics 1994, 50(1):109-17. 10.2307/2533201, 8086594.
26. Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997, 61(5):1179-88. 10.1086/301592, 1716027, 9345087.
27. Lander ES, Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 1987, 84(8):2363-7. 10.1073/pnas.84.8.2363, 304651, 3470801.
28. Liu F, Arias-Vásquez A, Sleegers K, Aulchenko YS, Kayser M, Sanchez-Juan P, Feng BJ, Bertoli-Avella AM, van Swieten J, Axenovich TI. A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet 2007, 81(1):17-31. 10.1086/518720, 1950931, 17564960.
29. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11(3):241-7. 10.1038/ng1195-241, 7581446.
30. The Italian Cardiovascular Epidemiological Observatory. Ital Heart J 2004, 5(Suppl 3):49S-92S.
31. Nath SK, Chakravarti A, Chen CH, Cooper R, Weder A, Schork NJ. Segregation analysis of blood pressure and body mass index in a rural US community. Hum Biol 2002, 74(1):11-23. 10.1353/hub.2002.0010, 11931572.
32. A Van Rooyen JM, Kruger HS, Huisman HW, Wissing MP, BM M, Venter CS, Vorster HH. An epidemiological study of hypertension and its determinants in a population in transition: the THUSA study. J Hum Hypertens 2000, 14(12):779-787. 10.1038/sj.jhh.1001098, 11114693.
33. Mbanya JN, Minkoulu EM, Salah JN, Balkau B. The prevalence of hypertension in rural and urban Camerun. Int J Epidemiol 1998, 27(2):181-185. 10.1093/ije/27.2.181, 9602396.
34. Evans DM, Cardon LR. Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. Am J Hum Genet 2004, 75(4):687-92. 10.1086/424696, 1182056, 15311375.
35. Bellenguez C, Ober C, Bourgain C. A multiple splitting approach to linkage analysis in large pedigrees identifies a linkage to asthma on chromosome 12. Genet Epidemiol 2009, 33(3):207-16. 10.1002/gepi.20371, 18839415.
36. Zhu DL, Wang HY, Xiong MM, He X, Chu SL, Jin L, Wang GL, Yuan WT, Zhao GS, Boerwinkle E. Linkage of hypertension to chromosome 2q14-q23 in Chinese families. J Hypertens 2001, 19(1):55-61. 10.1097/00004872-200101000-00008, 11204305.
37. Caulfield M, Munroe P, Pembroke J, Samani N, Dominiczak A, Brown M, Benjamin N, Webster J, Ratcliffe P, O'Shea S. MRC British Genetics of Hypertension Study. Genome-wide mapping of human loci for essential hypertension. Lancet 2003, 361(9375):2118-23. 10.1016/S0140-6736(03)13722-1, 12826435.
38. Perola M, Kainulainen K, Pajukanta P, Terwilliger JD, Hiekkalinna T, Ellonen P, Kaprio J, Koskenvuo M, Kontula K, Peltonen L. Genome-wide scan of predisposing loci for increased diastolic blood pressure in Finnish siblings. J Hypertens 2000, 18(11):1579-85. 10.1097/00004872-200018110-00008, 11081770.
39. Kalmyrzaev B, Aldashev A, Khalmatov M, Polupanov A, Jumagulova A, Mamanova L, Wilkins MR, Town M. Genome-wide scan for premature hypertension supports linkage to chromosome 2 in a large Kyrgyz family. Hypertension 2006, 48(5):908-13. 10.1161/01.HYP.0000244107.13957.2b, 17000929.
40. Falchi M, Forabosco P, Mocci E, Borlino CC, Picciau A, Virdis E, Persico I, Parracciani D, Angius A, Pirastu M. A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia. Am J Hum Genet 2004, 75(6):1015-31. 10.1086/426155, 1182138, 15478097.
41. Zhang KX, Zhu DL, He X, Zhang Y, Zhang H, Zhao R, Lin J, Wang GL, Zhang KY, Huang W. Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003, 20(6):463-7.
42. Meyers KJ, Mosley TH, Fox E, Boerwinkle E, Arnett DK, Devereux RB, Kardia SL. Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks. Hypertension 2007, 49(5):992-9. 10.1161/HYPERTENSIONAHA.106.081265, 17339538.
43. Ohya S, Horowitz B, Greenwood IA. Functional and molecular identification of ERG channels in murine portal vein myocytes. Am J Physiol Cell Physiol 2002, 283:C866-C877.
44. 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(6):1291-6.
45. Rice T, Rankinen T, Chagnon YC, Province MA, Pérusse L, Leon AS, Skinner JS, Wilmore JH, Bouchard C, Rao DC. Genomewide linkage scan of resting blood pressure: HERITAGE Family Study. Health, Risk Factors, Exercise Training, and Genetics. Hypertension 2002, 39(6):1037-43. 10.1161/01.HYP.0000018911.46067.6E, 12052838.
46. Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007, 116(2):134-42. 10.1161/CIRCULATIONAHA.106.659086, 17592081.
47. Saunders CL, Chiodini BD, Sham P, Lewis CM, Abkevich V, Adeyemo AA, de Andrade M, Arya R, Berenson GS, Blangero J. Meta-analysis of genome-wide linkage studies in BMI and obesity. Obesity 2007, 15(9):2263-75. 10.1038/oby.2007.269, 17890495.
48. Angius A, Petretto E, Maestrale GB, Forabosco P, Casu G, Piras D, Fanciulli M, Falchi M, Melis PM, Palermo M. A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search. Am J Hum Genet 2002, 71(4):893-905. 10.1086/342929, 378544, 12228842.
49. Atwood LD, Samollow PB, Hixson JE, Stern MP, MacCluer JW. Genome-wide linkage analysis of blood pressure in Mexican Americans. Genet Epidemiol 2001, 20(3):373-82. 10.1002/gepi.7, 11255245.
50. Barkley RA, Chakravarti A, Cooper RS, Ellison RC, Hunt SC, Province MA, Turner ST, Weder AB, Boerwinkle E. Family Blood Pressure Program. Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension 2004, 43(2):477-82. 10.1161/01.HYP.0000111585.76299.f7, 14732741.
51. Chen W, Li S, Srinivasan SR, Boerwinkle E, Berenson GS. Autosomal genome scan for loci linked to blood pressure levels and trends since childhood: the Bogalusa Heart Study. Hypertension 2005, 45(5):954-9. 10.1161/01.HYP.0000161881.02361.11, 15809362.
52. Cooper RS, Luke A, Zhu X, Kan D, Adeyemo A, Rotimi C, Bouzekri N, Ward R. Genome scan among Nigerians linking blood pressure to chromosomes 2, 3, and 19. Hypertension 2002, 40(5):629-33. 10.1161/01.HYP.0000035708.02789.39, 12411454.
53. Hunt SC, Ellison RC, Atwood LD, Pankow JS, Province MA, Leppert MF. Genome scans for blood pressure and hypertension: the National Heart, Lung, and Blood Institute Family Heart Study. Hypertension 2002, 40(1):1-6. 10.1161/01.HYP.0000022660.28915.B1, 12105129.
54. Daley D, Edwards SR, Song Y, Baechle D, Puppala S, Schick JH, Olson JM, Goddard KA. Framingham Heart Study. Interaction of gender and body mass index (BMI) reveals evidence of linkage for hypertension in the Framingham Heart Study. BMC Genet 2003, 4(Suppl 1):S45. 10.1186/1471-2156-4-S1-S45, 1866481, 14975113.
55. Ng MC, So WY, Lam VK, Cockram CS, Bell GI, Cox NJ, Chan JC. Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes 2004, 53(10):2676-83. 10.2337/diabetes.53.10.2676, 15448100.
56. Rao DC, Province MA, Leppert MF, Oberman A, Heiss G, Ellison RC, Arnett DK, Eckfeldt JH, Schwander K, Mockrin SC. HyperGEN Network: A genome-wide affected sibpair linkage analysis of hypertension: the HyperGEN network. Am J Hypertens 2003, 16(2):148-50. 10.1016/S0895-7061(02)03247-8, 12559683.