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. Author manuscript; available in PMC: 2013 Jun 1.
Published in final edited form as: J Cardiovasc Transl Res. 2012 Apr 11;5(3):302–308. doi: 10.1007/s12265-012-9362-y

Table 1.

Loci and Genes Associated with Pulse Pressure, Systolic and Diastolic Blood Pressure and Hypertension

Study Race-ethnicity/country Genotyping Platform Traits Discovery
FBPP1 AA (n=3962)/Whites
(n=3667)/Hispanics
(n=1612)/Asian(n=1557)
U.S.
Genome-wide linkage Pulse pressure chromosome 7 at 75 cM,
LOD 3.1 in AA, chromosome
19 at 0 cM LOD 3.1
in combined sample whites
and AA, and a region on
chromosome 18 at 71 cM
LOD score of 3.2 in whites,
AA, and Hispanics.
FBPP2 AA (n=3962)/Whites
(n=3667)/Hispanics
(n=1612)/Asian(n=2154):
U.S.
Genome-wide linkage,
race-specific meta-
analyses
Pulse pressure chromosome 6, 42.27 cM
LOD 3.76 Raw PP, LOD
3.23 Medication adjusted PP,
(META): chromosome 1
212.44 LOD 2.82 Raw PP,
LOD 3.16 Medication
adjusted PP, HyperGEN)
HyperGEN3 AA(n=1251) U.S. Genome Scan Pulse Pressure Chromosome 1, 215 cM,
LOD 3.08, Chromosome 14,
85 cM, LOD 2.42
Howard University
Family Study4
AA (n=1017) U.S.
2nd cohort of 980 West
Africans
GWAS
Affymetrix 6.0
Systolic BP rs5743185, rs16877320,
rs11160059, rs17365948,
rs12279202, rs3751664
FBPP5 AA (n=737) (cases)
European Americans
(n=573)(controls)
microsatellite markers
and a set of informative
SNPs: Admixture mapping
hypertension 5 markers on chromosome
6q (near region 6q24); 2
markers on chromosome 21
(near region 21q21) may
contain genes influencing
risk of hypertension in AA
Dallas Heart Study6 AA (n=1743), White
(n=1000), Mexican
American (n=581)
Admixture mapping
2,270 ancestral informative
markers
Hypertension rs2272996
CARe7 AA (n=8591), replication
Cohorts: Women’s
Health Initiative; Maywood,
GENOA, Howard University
Family Study, native Nigerian
African Sample (n=11,882)
GWAS Affymetrix 6.0
50K Cardiovascular
gene-centric array
Systolic and diastolic
blood pressure
none of the top SNPs
replicated
CARe8 AA (n=6303), replication
Cohorts: Women’s Health Initiative, Maywood,
GENOA, Howard University
Family Study, native Nigerian
African Sample (n=11,882)
admixture mapping
follow up association
Systolic and Diastolic
blood pressure
rs7726475 between genes
SUB1 and NPR3
International
Consortium for
Blood Pressure
Association Studies9
AA (n=19,775), Europeans
(n=200,000), East Asians
(n=29,719), South Asians
GWAS Meta-analysis Systolic and Diastolic
blood pressure,
Hypertension
rs13082711 (SLC4A7)
(SBP/DBP); rs419076
(MECOM), (SBP);
rs13107325 (SLC39A8)
(SBP/DBP); rs13139571
(GUCY1A3-GUCY1B3)
(SBP/DBP); rs1173771
(NPR3-C5orf23) (SBP);
rs11953630 (EBF1)
(SBP/DBP); rs805303
(BAT2-BAT5) (DBP);
rs7129220 (ADM)
(SBP/DBP); rs633185
(FLJ32810/TMEM133)
(SBP); rs2521501 (FURIN-
FES) (SBP/DBP);
rs17608766 (GOSR2)
(SBP/DBP); rs1327235
(JAG1) (SBP/DBP);
rs6015450 (GNAS-EDN3)
(SBP/DBP); rs17367504
(MTHFR-NPPB) (SBP/DBP);
rs3774372 (ULK4)
(SBP/DBP); rs1458038
(FGF5) (SBP/DBP);
rs1813353 (CACNB2(3’)
(SBP/DBP); rs11191548
(CYP17A1-NT5C2)
(SBP/DBP); rs381815
(PLEKHA7) (SBP/DBP);
rs3184504 (SH2B3)
(SBP/DBP); rs1378942
(CYP1A1-ULK3) (SBP):
rs12940887 (ZNF652)
(SBP/DBP)
1

Bielinski SJ, Lynch AI, Miller MB, Weder A, Cooper R, Oberman A, Chen YD, Turner ST, Fornage M, Province M, Arnett DK. Genome-wide linkage analysis for loci affecting pulse pressure: The family blood pressure program. Hypertension. 2005;46:1286–1293

2

Simino J, Shi G, Kume R, Schwander K, Province MA, Gu CC, Kardia S, Chakravarti A, Ehret G, Olshen RA, Turner ST, Ho LT, Zhu X, Jaquish C, Paltoo D, Cooper RS, Weder A, Curb JD, Boerwinkle E, Hunt SC, Rao DC. Five blood pressure loci identified by an updated genome-wide linkage scan: Meta-analysis of the family blood pressure program. Am J Hypertens. 2011;24:347–354

3

Sherva R, Miller MB, Lynch AI, Devereux RB, Rao DC, Oberman A, Hopkins PN, Kitzman DW, Atwood LD, Arnett DK. A whole genome scan for pulse pressure/stroke volume ratio in african americans: The hypergen study. Am J Hypertens. 2007;20:398–402

4

Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, Chen Y, Christman M, Rotimi C. A genome-wide association study of hypertension and blood pressure in african americans. PLoS Genet. 2009;5:e1000564

5

Zhu X, Luke A, Cooper RS, Quertermous T, Hanis C, Mosley T, Gu CC, Tang H, Rao DC, Risch N, Weder A. Admixture mapping for hypertension loci with genome-scan markers. Nat Genet. 2005;37:177–181

6

Zhu X, Cooper RS. Admixture mapping provides evidence of association of the vnn1 gene with hypertension. PLoS One. 2007;2:e1244

7

Fox ER, Young JH, Li Y, Dreisbach AW, Keating BJ, Musani SK, Liu K, Morrison AC, Ganesh S, Kutlar A, Ramachandran VS, Polak JF, Fabsitz RR, Dries DL, Farlow DN, Redline S, Adeyemo A, Hirschorn JN, Sun YV, Wyatt SB, Penman AD, Palmas W, Rotter JI, Townsend RR, Doumatey AP, Tayo BO, Mosley TH, Jr., Lyon HN, Kang SJ, Rotimi CN, Cooper RS, Franceschini N, Curb JD, Martin LW, Eaton CB, Kardia SL, Taylor HA, Caulfield MJ, Ehret GB, Johnson T, Chakravarti A, Zhu X, Levy D, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sober S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Kumari M, Go MJ, van der Harst P, Kao WH, Sjogren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J, Seielstad M, Sim X, Nguyen KD, Lehtimaki T, Matullo G, Wu Y, Gaunt TR, Onland-Moret NC, Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Campbell H, Ludwig B, Tomaszewski M, Tzoulaki I, Palmer ND, Aspelund T, Garcia M, Chang YP, O'Connell JR, Steinle NI, Grobbee DE, Arking DE, Hernandez D, Najjar S, McArdle WL, Hadley D, Brown MJ, Connell JM, Hingorani AD, Day IN, Lawlor DA, Beilby JP, Lawrence RW, Clarke R, Collins R, Hopewell JC, Ongen H, Bis JC, Kahonen M, Viikari J, Adair LS, Lee NR, Chen MH, Olden M, Pattaro C, Hoffman Bolton JA, Kottgen A,Bergmann S, Mooser V, Chaturvedi N, Frayling TM, Islam M, Jafar TH,Erdmann J, Kulkarni SR, Bornstein SR, Grassler J, Groop L, Voight BF, Kettunen J, Howard P, Taylor A, Guarrera S, Ricceri F, Emilsson V, Plump A, Barroso I, Khaw KT, Weder AB, Hunt SC, Bergman RN, Collins FS, Bonnycastle LL, Scott LJ, Stringham HM, Peltonen L, Perola M, Vartiainen E, Brand SM, Staessen JA, Wang TJ, Burton PR, Soler Artigas M, Dong Y, Snieder H, Wang X,Zhu H, Lohman KK, Rudock ME, Heckbert SR, Smith NL, Wiggins KL, Shriner D, Veldre G, Viigimaa M, Kinra S, Prabhakaran D, Tripathy V, Langefeld CD, Rosengren A, Thelle DS, Corsi AM, Singleton A, Forrester T, Hilton G, McKenzie CA, Salako T, Iwai N, Kita Y, Ogihara T, Ohkubo T, Okamura T, Ueshima H, Umemura S, Eyheramendy S, Meitinger T, Wichmann HE, Cho YS, Kim HL, Lee JY, Scott J, Sehmi JS, Zhang W, Hedblad B, Nilsson P, Smith GD, Wong A, Narisu N, Stancakova A, Raffel LJ, Yao J, Kathiresan S, O'Donnell C, Schwartz SM, Ikram MA, Longstreth WT, Jr., Seshadri S, Shrine NR, Wain LV, Morken MA, Swift AJ, Laitinen J, Prokopenko I, Zitting P, Cooper JA, Humphries SE, Danesh J, Rasheed A, Goel A, Hamsten A, Watkins H, Bakker SJ, van Gilst WH, Janipalli C, Mani KR, Yajnik CS, Hofman A, Mattace-Raso FU, Oostra BA, Demirkan A, Isaacs A, Rivadeneira F, Lakatta EG, Orru M, Scuteri A, Ala-Korpela M, Kangas AJ, Lyytikainen LP, Soininen P, Tukiainen T, Wurz P, Ong RT, Dorr M, Kroemer HK, Volker U, Volzke H, Galan P, Hercberg S, Lathrop M, Zelenika D, Deloukas P, Mangino M, Spector TD, Zhai G, Meschia JF, Nalls MA, Sharma P, Terzic J, Kumar MJ, Denniff M, Zukowska-Szczechowska E, Wagenknecht LE, Fowkes FG, Charchar FJ, Schwarz PE, Hayward C, Guo X, Bots ML, Brand E, Samani N, Polasek O, Talmud PJ, Nyberg F, Kuh D, Laan M, Hveem K, Palmer LJ, van der Schouw YT, Casas JP, Mohlke KL, Vineis P, Raitakari O, Wong TY, Tai ES, Laakso M, Rao DC, Harris TB, Morris RW, Dominiczak AF, Kivimaki M, Marmot MG, Miki T, Saleheen D, Chandak GR, Coresh J, Navis G, Salomaa V, Han BG, Kooner JS, Melander O, Ridker PM, Bandinelli S, Gyllensten UB, Wright AF, Wilson JF, Ferrucci L, Farrall M, Tuomilehto J, Pramstaller PP, Elosua R, Soranzo N, Sijbrands EJ, Altshuler D, Loos RJ, Shuldiner AR, Gieger C, Meneton P, Uitterlinden AG, Wareham NJ, Gudnason V, Rettig R, Uda M, Strachan DP, Witteman JC, Hartikainen AL, Beckmann JS, Boerwinkle E, Boehnke M, Larson MG, Jarvelin MR, Psaty BM, Abecasis GR, Elliott P, van Duijn CM, Newton-Cheh C. Association of genetic variation with systolic and diastolic blood pressure among african americans: The candidate gene association resource study. Hum Mol Genet. 2011;20:2273–2284

8

Zhu X, Young JH, Fox E, Keating BJ, Franceschini N, Kang S, Tayo B, Adeyemo A, Sun YV, Li Y, Morrison A, Newton-Cheh C, Liu K, Ganesh SK, Kutlar A, Vasan RS, Dreisbach A, Wyatt S, Polak J, Palmas W, Musani S, Taylor H, Fabsitz R, Townsend RR, Dries D, Glessner J, Chiang CW, Mosley T, Kardia S, Curb D, Hirschhorn JN, Rotimi C, Reiner A, Eaton C, Rotter JI, Cooper RS, Redline S, Chakravarti A, Levy D. Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: Contributions from the care consortium. Hum Mol Genet. 2011;20:2285–2295

9

Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sober S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Fox ER, Kumari M, Go MJ, van der Harst P, Kao WH, Sjogren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J, Tayo B, Seielstad M, Sim X, Nguyen KD, Lehtimaki T, Matullo G, Wu Y, Gaunt TR, Onland-Moret NC, Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Adeyemo A, Palmas W, Campbell H, Ludwig B, Tomaszewski M, Tzoulaki I, Palmer ND, Aspelund T, Garcia M, Chang YP, O'Connell JR, Steinle NI, Grobbee DE, Arking DE, Kardia SL, Morrison AC, Hernandez D, Najjar S, McArdle WL, Hadley D, Brown MJ, Connell JM, Hingorani AD, Day IN, Lawlor DA, Beilby JP, Lawrence RW, Clarke R,Hopewell JC, Ongen H, Dreisbach AW, Li Y, Young JH, Bis JC, Kahonen M, Viikari J, Adair LS, Lee NR, Chen MH, Olden M, Pattaro C, Bolton JA, Kottgen A, Bergmann S, Mooser V, Chaturvedi N, Frayling TM, Islam M, Jafar TH, Erdmann J, Kulkarni SR, Bornstein SR, Grassler J, Groop L, Voight BF, Kettunen J, Howard P, Taylor A, Guarrera S, Ricceri F, Emilsson V, Plump A, Barroso I, Khaw KT, Weder AB, Hunt SC, Sun YV, Bergman RN, Collins FS, Bonnycastle LL, Scott LJ, Stringham HM, Peltonen L, Perola M, Vartiainen E, Brand SM, Staessen JA, Wang TJ, Burton PR, Artigas MS, Dong Y, Snieder H, Wang X, Zhu H, Lohman KK, Rudock ME, Heckbert SR, Smith NL, Wiggins KL, Doumatey A, Shriner D, Veldre G, Viigimaa M, Kinra S, Prabhakaran D, Tripathy V, Langefeld CD, Rosengren A, Thelle DS, Corsi AM, Singleton A, Forrester T, Hilton G, McKenzie CA, Salako T, Iwai N, Kita Y, Ogihara T, Ohkubo T, Okamura T, Ueshima H, Umemura S, Eyheramendy S, Meitinger T, Wichmann HE, Cho YS, Kim HL, Lee JY, Scott J, Sehmi JS, Zhang W, Hedblad B, Nilsson P, Smith GD, Wong A, Narisu N, Stancakova A, Raffel LJ, Yao J, Kathiresan S, O'Donnell CJ, Schwartz SM, Ikram MA, Longstreth WT, Jr., Mosley TH, Seshadri S, Shrine NR, Wain LV, Morken MA, Swift AJ, Laitinen J, Prokopenko I, Zitting P, Cooper JA, Humphries SE, Danesh J, Rasheed A, Goel A, Hamsten A, Watkins H, Bakker SJ, van Gilst WH, Janipalli CS, Mani KR, Yajnik CS, Hofman A, Mattace-Raso FU, Oostra BA, Demirkan A, Isaacs A, Rivadeneira F, Lakatta EG, Orru M, Scuteri A, Ala-Korpela M, Kangas AJ,Lyytikainen LP, Soininen P, Tukiainen T, Wurtz P, Ong RT, Dorr M, Kroemer HK, Volker U, Volzke H, Galan P, Hercberg S, Lathrop M, Zelenika D, Deloukas, Mangino M, Spector TD, Zhai G, Meschia JF, Nalls MA, Sharma P, Terzic J, Kumar MV, Denniff M, Zukowska-Szczechowska E, Wagenknecht LE, Fowkes FG, Charchar FJ, Schwarz PE, Hayward C, Guo X, Rotimi C, Bots ML, Brand E, Samani NJ, Polasek O, Talmud PJ, Nyberg F, Kuh D, Laan M, Hveem K, Palmer LJ, van der Schouw YT, Casas JP, Mohlke KL, Vineis P, Raitakari O, Ganesh SK, Wong TY, Tai ES, Cooper RS, Laakso M, Rao DC, Harris TB, Morris RW, Dominiczak AF, Kivimaki M, Marmot MG, Miki T, Saleheen D, Chandak GR, Coresh J, Navis G, Salomaa V, Han BG, Zhu X, Kooner JS, Melander O, Ridker PM, Bandinelli S, Gyllensten UB, Wright AF, Wilson JF, Ferrucci L, Farrall M, Tuomilehto J, Pramstaller PP, Elosua R, Soranzo N, Sijbrands EJ, Altshuler D, Loos RJ, Shuldiner AR, Gieger C, Meneton P, Uitterlinden AG, Wareham NJ, Gudnason V, Rotter JI, Rettig R, Uda M, Strachan DP, Witteman JC, Hartikainen AL, Beckmann JS, Boerwinkle E, Vasan RS, Boehnke M, Larson MG, Jarvelin MR, Psaty BM, Abecasis GR, Chakravarti A, Elliott P, van Duijn CM, Newton-Cheh C, Levy D, Caulfield MJ, Johnson T, Tang H, Knowles J, Hlatky M, Fortmann S, Assimes TL, Quertermous T, Go A, Iribarren C, Absher D, Risch N, Myers R, Sidney S, Ziegler A, Schillert A, Bickel C, 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