메뉴 건너뛰기




Volumn 2, Issue 1, 2000, Pages 23-31

Use of single nucleotide polymorphisms for gene discovery in hypertension

Author keywords

[No Author keywords available]

Indexed keywords

EXONUCLEASE;

EID: 0034137620     PISSN: 15226417     EISSN: 15343111     Source Type: Journal    
DOI: 10.1007/s11906-000-0054-7     Document Type: Article
Times cited : (6)

References (40)
  • 1
    • 0002966223 scopus 로고
    • Familial aggregation and genetic epidemiology of blood pressure
    • Edited by Laragh JH and Brenner BM. New York: Raven
    • Ward R: Familial aggregation and genetic epidemiology of blood pressure. In Hypertension: Pathophysiology, Diagnosis and Management. Edited by Laragh JH and Brenner BM. New York: Raven; 1995: 67-88.
    • (1995) Hypertension: Pathophysiology, Diagnosis and Management , pp. 67-88
    • Ward, R.1
  • 2
    • 0032798794 scopus 로고    scopus 로고
    • Hypertension
    • Warnock DG: Hypertension. Semin Nephrol 1999, 19: 374-380.
    • (1999) Semin Nephrol , vol.19 , pp. 374-380
    • Warnock, D.G.1
  • 3
    • 0030068024 scopus 로고    scopus 로고
    • Molecular genetics of human blood pressure variation
    • Lifton RP: Molecular genetics of human blood pressure variation. Science 1996, 272: 676-680.
    • (1996) Science , vol.272 , pp. 676-680
    • Lifton, R.P.1
  • 4
    • 0025817650 scopus 로고
    • Blood pressure control-special role of the kidney and body fluids
    • Guyton AC: Blood pressure control-special role of the kidney and body fluids. Science 1991, 252: 1813-1816.
    • (1991) Science , vol.252 , pp. 1813-1816
    • Guyton, A.C.1
  • 5
    • 0027389091 scopus 로고
    • Genetics of essential hypertension
    • Kurtz TW, Spence MA: Genetics of essential hypertension. Am J Med 1993, 94: 77-84.
    • (1993) Am J Med , vol.94 , pp. 77-84
    • Kurtz, T.W.1    Spence, M.A.2
  • 6
    • 0028017911 scopus 로고
    • Traversing the biological complexity in the hierarchy between genome and CAD endpoints in the population at large
    • Sing C F, Zerba KE, Reilly SL: Traversing the biological complexity in the hierarchy between genome and CAD endpoints in the population at large. Clin Genet 1994, 46: 6-14.
    • (1994) Clin Genet , vol.46 , pp. 6-14
    • Sing, C.F.1    Zerba, K.E.2    Reilly, S.L.3
  • 7
    • 0026669336 scopus 로고
    • Molecular basis of human hypertension: Role of angiotensinogen
    • Jeunemaitre X, Soubrier F, Kotelevtsev YV, et al.: Molecular basis of human hypertension: role of angiotensinogen. Cell 1992, 71: 169-180. This study presents an important landmark as an early example of linkage studies that suggest a positional candidate hypertension gene, identification of single nucleotide polymorphism variation in the gene, and an examination of its association of such single nucleotide polymorphism variation with hypertension.
    • (1992) Cell , vol.71 , pp. 169-180
    • Jeunemaitre, X.1    Soubrier, F.2    Kotelevtsev, Y.V.3
  • 8
    • 0028966390 scopus 로고
    • Association of the alpha-adducin locus with essential hypertension
    • Casari G, Barlassina C, Cusi D, et al.: Association of the alpha-adducin locus with essential hypertension. Hypertension 1995, 25: 320-326.
    • (1995) Hypertension , vol.25 , pp. 320-326
    • Casari, G.1    Barlassina, C.2    Cusi, D.3
  • 9
    • 0344193095 scopus 로고    scopus 로고
    • Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males
    • Fornage M, Amos CI, Kardia S, et al.: Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. Circulation 1998, 97: 1773-1779.
    • (1998) Circulation , vol.97 , pp. 1773-1779
    • Fornage, M.1    Amos, C.I.2    Kardia, S.3
  • 10
    • 0345486977 scopus 로고    scopus 로고
    • Evidence for association and genetic linkage of the angiotensin- converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study
    • O'Donnell CJ, Lindpaintner K, Larson MG, et al.: Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 1998, 97: 1766-1772.
    • (1998) Circulation , vol.97 , pp. 1766-1772
    • O'Donnell, C.J.1    Lindpaintner, K.2    Larson, M.G.3
  • 11
    • 0033596973 scopus 로고    scopus 로고
    • Genome-wide linkage analyses of systolic blood pressure using highly discordant siblings
    • Krushkal J, Ferrell R, Mockrin SC, et al.: Genome-wide linkage analyses of systolic blood pressure using highly discordant siblings. Circulation 1999, 99: 1407-1410.
    • (1999) Circulation , vol.99 , pp. 1407-1410
    • Krushkal, J.1    Ferrell, R.2    Mockrin, S.C.3
  • 12
    • 0032734970 scopus 로고    scopus 로고
    • Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population
    • Xu X, Yang J, Rogus J, et al.: Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population. Hum Mol Genet 1999, 8: 2551-2555.
    • (1999) Hum Mol Genet , vol.8 , pp. 2551-2555
    • Xu, X.1    Yang, J.2    Rogus, J.3
  • 13
    • 9844221411 scopus 로고    scopus 로고
    • Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10
    • Julier C, Delepine M, Keavney B, et al.: Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Hum Mol Genet 1997, 6: 2077-2085.
    • (1997) Hum Mol Genet , vol.6 , pp. 2077-2085
    • Julier, C.1    Delepine, M.2    Keavney, B.3
  • 14
    • 0027409212 scopus 로고
    • Linkage analysis of "necessary" disease loci versus "susceptibility" loci
    • Greenberg DA: Linkage analysis of "necessary" disease loci versus "susceptibility" loci. Am J Hum Genet 1993, 52: 135-143.
    • (1993) Am J Hum Genet , vol.52 , pp. 135-143
    • Greenberg, D.A.1
  • 15
    • 0032429154 scopus 로고    scopus 로고
    • A DNA polymorphism discovery resource for research on human genetic variation
    • Collins FS, Brooks LD, Chakravarti A: A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 1998, 8: 1229-1231.
    • (1998) Genome Res , vol.8 , pp. 1229-1231
    • Collins, F.S.1    Brooks, L.D.2    Chakravarti, A.3
  • 16
    • 17344364213 scopus 로고    scopus 로고
    • DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
    • Nickerson DA, Taylor SL, Weiss KM, et al.: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998, 19: 233-240. Provides important insight into the frequency of single nucleotide polymorphism variation and the haplotype structure of a single gene by sequencing the gene from 142 chromosomes. Recognition of the extent of variation in the gene studied has made clearer the difficult challenge of recognizing single nucleotide polymorphism variation or combinations of single nucleotide polymorphism variation that underlie disease susceptibility.
    • (1998) Nat Genet , vol.19 , pp. 233-240
    • Nickerson, D.A.1    Taylor, S.L.2    Weiss, K.M.3
  • 17
    • 0026053092 scopus 로고
    • Low nucleotide diversity in man
    • Li WH, Sadler LA: Low nucleotide diversity in man. Genetics 1991, 129: 513-523.
    • (1991) Genetics , vol.129 , pp. 513-523
    • Li, W.H.1    Sadler, L.A.2
  • 18
    • 0032524383 scopus 로고    scopus 로고
    • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
    • Wang DG, Fan J, Siao C, et al.: Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome Science 1998, 280: 1077-1082. Introduced the use of high-density DNA arrays for the study of human gene sequence variation and compared the ability of this technique with detect variation with direct sequencing. These studies have given the first comprehensive view of human sequence diversity across the genome and permit reliable representations of both the types and frequency of such variation.
    • (1998) Science , vol.280 , pp. 1077-1082
    • Wang, D.G.1    Fan, J.2    Siao, C.3
  • 20
    • 0033015046 scopus 로고    scopus 로고
    • Mining SNPs from EST databases
    • Picoult-Newberg L, Ideker TE, Pohl MG, et al.: Mining SNPs from EST databases. Genome Res 1999, 9: 167-174. Much information on human gene sequence variation already exists obscurely in sequence databases. This study provides an efficient model for accurately identifying such variation.
    • (1999) Genome Res , vol.9 , pp. 167-174
    • Picoult-Newberg, L.1    Ideker, T.E.2    Pohl, M.G.3
  • 21
    • 0032533647 scopus 로고    scopus 로고
    • A 4-Mb high-density single nucleotide polymorphism-based map around human APOE
    • Lai E, Riley J, Purvis I, Roses A: A 4-Mb high-density single nucleotide polymorphism-based map around human APOE. Genomics 1998, 54: 31-38.
    • (1998) Genomics , vol.54 , pp. 31-38
    • Lai, E.1    Riley, J.2    Purvis, I.3    Roses, A.4
  • 22
    • 0030660620 scopus 로고    scopus 로고
    • Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
    • Underhill PA, Jin L, Lin AA, et al.: Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 1997, 7: 996-1005. Denaturing HPLC has proven to be a valuable tool in novel single nucleotide polymorphism detection because of its accuracy and capacity for automation. The authors discuss their identification of human Y chromosome variation and demonstrate how this information can be applied to examining the genetic relationships between geographically separate contemporary human populations.
    • (1997) Genome Res , vol.7 , pp. 996-1005
    • Underhill, P.A.1    Jin, L.2    Lin, A.A.3
  • 23
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • Jones AC, Austin J, Hansen N, et al.: Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 1999, 45: 1133-1140.
    • (1999) Clin Chem , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3
  • 24
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill M, Altshuler D, Ireland J, et al.: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999, 22: 231-238. Using DNA chips and denaturing HPLC, 106 genes were screened over 11 4 chromosomes to identify single nucleotide polymorphisms and to determine coding sequence variation in the human population. Five hundred six single nucleotide polymorphisms were identified; 392 were in coding sequence, of which approximately half caused synonymous and half caused nonsynonymous changes. This study provides a broad representation of the type and frequency of single nucleotide polymorphism variation in human genes.
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3
  • 25
    • 0032990407 scopus 로고    scopus 로고
    • Patterns of singlenucleotide polymorphisms in candidate genes for blood-pressure homeostasis
    • Halushka MK, Fan JB, Bentley K, et al.: Patterns of singlenucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999, 22: 239-247. By screening 75 genes and 148 chromosomes, 874 single nucleotide polymorphisms were identified. Among those identifies, 44% were in the coding sequence, of which 54% lead to a change in the predicted protein encoded.
    • (1999) Nat Genet , vol.22 , pp. 239-247
    • Halushka, M.K.1    Fan, J.B.2    Bentley, K.3
  • 26
    • 0030890116 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
    • Haff LA, Smirnov IP: Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res 1997, 7: 378-388.
    • (1997) Genome Res , vol.7 , pp. 378-388
    • Haff, L.A.1    Smirnov, I.P.2
  • 27
    • 0031734601 scopus 로고    scopus 로고
    • High level multiplex genotyping by MALDI-TOF mass spectrometry
    • Ross P, Hall L, Smirnov I, Haff L: High level multiplex genotyping by MALDI-TOF mass spectrometry. Nat Biotechnol 1998, 16: 1347-1351.
    • (1998) Nat Biotechnol , vol.16 , pp. 1347-1351
    • Ross, P.1    Hall, L.2    Smirnov, I.3    Haff, L.4
  • 28
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenic probes and the 5' nuclease assay
    • Livak KJ: Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 1999, 14: 143-149.
    • (1999) Genet Anal , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 29
    • 0031451539 scopus 로고    scopus 로고
    • Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR
    • Lay MJ, Wittwer CT: Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997, 43: 2262-2267.
    • (1997) Clin Chem , vol.43 , pp. 2262-2267
    • Lay, M.J.1    Wittwer, C.T.2
  • 31
    • 0032998425 scopus 로고    scopus 로고
    • Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
    • Lyamichev V, Mast AL, Hall JG, et al.: Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nat Biotechnol 1999, 17: 292-296.
    • (1999) Nat Biotechnol , vol.17 , pp. 292-296
    • Lyamichev, V.1    Mast, A.L.2    Hall, J.G.3
  • 32
    • 0033032090 scopus 로고    scopus 로고
    • Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry
    • Griffin TJ, Hall JG, Prudent JR, Smith LM: Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry. Proc Natl Acad Sci USA 1999, 96: 6301-6306.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 6301-6306
    • Griffin, T.J.1    Hall, J.G.2    Prudent, J.R.3    Smith, L.M.4
  • 33
    • 0032231888 scopus 로고    scopus 로고
    • Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
    • Clark AG, Weiss KM, Nickerson DA, et al.: Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998, 63: 595-612. Using the allelic variation described in reference 16, Clark et al. reconstructed the haplotype structure of the genetic variation in the LPL gene and described aspects of the evolutionary processes that produced this variation. Their analysis indicates that gene exhibits considerable population structure (ie, segregating variants with different frequencies in one group than another). Furthermore, they found evidence of abundant intragenic recombination so that recombination and mutation contributed approximately equally to the creation of existing human haplotypes in this gene.
    • (1998) Am J Hum Genet , vol.63 , pp. 595-612
    • Clark, A.G.1    Weiss, K.M.2    Nickerson, D.A.3
  • 34
    • 0033358728 scopus 로고    scopus 로고
    • Sequence diversity in 36 candidate genes for cardiovascular disorders
    • Cambien F, Poirier O, Nicaud V, et al.: Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet 1999, 65: 183-191.
    • (1999) Am J Hum Genet , vol.65 , pp. 183-191
    • Cambien, F.1    Poirier, O.2    Nicaud, V.3
  • 35
    • 0028264894 scopus 로고
    • The effec of variation in the apolipoprotein B gene on plasmid lipid and apolipoprotein B levels: A likelihood-based approach to cladistic analysis
    • Hallman DM, Visvikis S, Steinmetz J, Boerwinkle E: The effec of variation in the apolipoprotein B gene on plasmid lipid and apolipoprotein B levels: a likelihood-based approach to cladistic analysis. Ann Hum Genet 1994, 58: 35-64.
    • (1994) Ann Hum Genet , vol.58 , pp. 35-64
    • Hallman, D.M.1    Visvikis, S.2    Steinmetz, J.3    Boerwinkle, E.4
  • 36
    • 0029058158 scopus 로고
    • Separating population structure from population history: A cladistic analysis of the geographical distribution of mitochondrial DNA haplotypes in the tiger salamander, Ambystoma tigrinum
    • Templeton AR, Routman E, Phillips CA: Separating population structure from population history: a cladistic analysis of the geographical distribution of mitochondrial DNA haplotypes in the tiger salamander, Ambystoma tigrinum. Genetics 1995, 140: 767-782.
    • (1995) Genetics , vol.140 , pp. 767-782
    • Templeton, A.R.1    Routman, E.2    Phillips, C.A.3
  • 37
    • 0023425198 scopus 로고
    • A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping: Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila
    • Templeton AR, Boerwinkle E, Sing CF: A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping: basic theory and an analysis of alcohol dehydrogenase activity in Drosophila. Genetics 1987, 117: 343-351.
    • (1987) Genetics , vol.117 , pp. 343-351
    • Templeton, A.R.1    Boerwinkle, E.2    Sing, C.F.3
  • 38
    • 0030861903 scopus 로고    scopus 로고
    • The use of a genetic map of biallelic markers in linkage studies
    • Kruglyak L: The use of a genetic map of biallelic markers in linkage studies Nat Genet 1997, 17: 21-24.
    • (1997) Nat Genet , vol.17 , pp. 21-24
    • Kruglyak, L.1
  • 39
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome linkage disequilibrium mapping of common disease genes
    • Kruglyak L: Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 1999, 22: 139-144.
    • (1999) Nat Genet , vol.22 , pp. 139-144
    • Kruglyak, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.