메뉴 건너뛰기




Volumn 20, Issue 9, 2012, Pages 956-964

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers

Author keywords

HAPMAP; POPRES; population genetics; Sardinia

Indexed keywords

ARTICLE; AUTOSOME; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOIDY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN EXPERIMENT; ITALY; MALE; MITOCHONDRIAL GENETICS; POPULATION GENETICS; POPULATION STRUCTURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN EUROPE; STRATIFICATION; Y CHROMOSOME;

EID: 84865260276     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.22     Document Type: Article
Times cited : (12)

References (40)
  • 1
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362-9367.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 2
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ et al: Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 3
    • 0036796422 scopus 로고    scopus 로고
    • Gene finding in genetically isolated populations
    • Heutink P, Oostra BA: Gene finding in genetically isolated populations. Hum Mol Genet 2002; 11: 2507-2515. (Pubitemid 35174715)
    • (2002) Human Molecular Genetics , vol.11 , Issue.20 , pp. 2507-2515
    • Heutink, P.1    Oostra, B.A.2
  • 4
    • 59949103364 scopus 로고    scopus 로고
    • Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae
    • Lowe JK, Maller JB, Pe'er I et al: Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet 2009; 5: e1000365.
    • (2009) PLoS Genet , vol.5
    • Lowe, J.K.1    Maller, J.B.2    Pe'Er, I.3
  • 5
    • 18144362129 scopus 로고    scopus 로고
    • The effect of genetic drift in a young genetically isolated population
    • DOI 10.1046/j.1529-8817.2005.00162.x
    • Pardo LM, MacKay I, Oostra B, van Duijn CM, Aulchenko YS: The effect of genetic drift in a young genetically isolated population. Ann Hum Genet 2005; 69: 288-295. (Pubitemid 40613730)
    • (2005) Annals of Human Genetics , vol.69 , Issue.3 , pp. 288-295
    • Pardo, L.M.1    MacKay, I.2    Oostra, B.3    Van Duijn, C.M.4    Aulchenko, Y.S.5
  • 6
    • 56749098072 scopus 로고    scopus 로고
    • Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
    • Aulchenko YS, Hoppenbrouwers IA, Ramagopalan SV et al: Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet 2008; 40: 1402-1403.
    • (2008) Nat Genet , vol.40 , pp. 1402-1403
    • Aulchenko, Y.S.1    Hoppenbrouwers, I.A.2    Ramagopalan, S.V.3
  • 8
    • 0037439542 scopus 로고    scopus 로고
    • Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree
    • DOI 10.1093/hmg/ddg012
    • Newman DL, Abney M, Dytch H, Parry R, McPeek MS, Ober C: Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree. Hum Mol Genet 2003; 12: 137-144. (Pubitemid 36124449)
    • (2003) Human Molecular Genetics , vol.12 , Issue.2 , pp. 137-144
    • Newman, D.L.1    Abney, M.2    Dytch, H.3    Parry, R.4    McPeek, M.S.5    Ober, C.6
  • 10
    • 79955767066 scopus 로고    scopus 로고
    • Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    • Chio A, Borghero G, Pugliatti M et al: Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011; 68: 594-598.
    • (2011) Arch Neurol , vol.68 , pp. 594-598
    • Chio, A.1    Borghero, G.2    Pugliatti, M.3
  • 11
    • 33646375453 scopus 로고    scopus 로고
    • Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    • Service S, DeYoung J, Karayiorgou M et al: Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006; 38: 556-560.
    • (2006) Nat Genet , vol.38 , pp. 556-560
    • Service, S.1    Deyoung, J.2    Karayiorgou, M.3
  • 13
    • 0026556474 scopus 로고
    • Molecular characterization of beta-thalassemia in the Sardinian population
    • Rosatelli MC, Dozy A, Faa V et al: Molecular characterization of beta-thalassemia in the Sardinian population. Am J Hum Genet 1992; 50: 422-426.
    • (1992) Am J Hum Genet , vol.50 , pp. 422-426
    • Rosatelli, M.C.1    Dozy, A.2    Faa, V.3
  • 14
    • 77952884985 scopus 로고    scopus 로고
    • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
    • Sanna S, Pitzalis M, Zoledziewska M et al: Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet 2010; 42: 495-497.
    • (2010) Nat Genet , vol.42 , pp. 495-497
    • Sanna, S.1    Pitzalis, M.2    Zoledziewska, M.3
  • 15
    • 38949113705 scopus 로고    scopus 로고
    • Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: Inference for association scans
    • Contu D, Morelli L, Santoni F, Foster JW, Francalacci P, Cucca F: Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans. PLoS One 2008; 3: e1430.
    • (2008) PLoS One , vol.3
    • Contu, D.1    Morelli, L.2    Santoni, F.3    Foster, J.W.4    Francalacci, P.5    Cucca, F.6
  • 16
    • 84864287131 scopus 로고    scopus 로고
    • High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis
    • Pistis G, Piras I, Pirastu N et al: High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. PLoS One 2009; 4: e4654.
    • (2009) PLoS One , vol.4
    • Pistis, G.1    Piras, I.2    Pirastu, N.3
  • 17
    • 0034634349 scopus 로고    scopus 로고
    • The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A y chromosome perspective
    • Semino O, Passarino G, Oefner PJ et al: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 2000; 290: 1155-1159.
    • (2000) Science , vol.290 , pp. 1155-1159
    • Semino, O.1    Passarino, G.2    Oefner, P.J.3
  • 18
    • 33645775067 scopus 로고    scopus 로고
    • An utter refutation of the /'Fundamental Theorem of the HapMap/'
    • Terwilliger JD, Hiekkalinna T: An utter refutation of the /'Fundamental Theorem of the HapMap/'. Eur J Hum Genet 2006; 14: 426-437.
    • (2006) Eur J Hum Genet , vol.14 , pp. 426-437
    • Terwilliger, J.D.1    Hiekkalinna, T.2
  • 20
    • 85007110786 scopus 로고    scopus 로고
    • Arlequin (version 3.0): An integrated software package for population genetics data analysis
    • Excoffier L, Laval G, Schneider S: Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform 2007; 1: 47-50.
    • (2007) Evol Bioinform , vol.1 , pp. 47-50
    • Excoffier, L.1    Laval, G.2    Schneider, S.3
  • 24
    • 66049132908 scopus 로고    scopus 로고
    • Global distribution of genomic diversity underscores rich complex history of continental human populations
    • Auton A, Bryc K, Boyko AR et al: Global distribution of genomic diversity underscores rich complex history of continental human populations, 2009. Genome Res 19: 795-803.
    • (2009) Genome Res , vol.19 , pp. 795-803
    • Auton, A.1    Bryc, K.2    Boyko, A.R.3
  • 25
    • 50949096560 scopus 로고    scopus 로고
    • The population reference sample, POPRES: A resource for population, disease, and pharmacological genetics research
    • Nelson MR, Bryc K, King KS, et al: The population reference sample, POPRES: a resource for population, disease, and pharmacological genetics research. Am J Hum Genet 2008; 83: 347-358.
    • (2008) Am J Hum Genet , vol.83 , pp. 347-358
    • Nelson, M.R.1    Bryc, K.2    King, K.S.3
  • 26
    • 55549115654 scopus 로고    scopus 로고
    • Genes mirror geography within Europe
    • Novembre J, Johnson T, Bryc K et al: Genes mirror geography within Europe. Nature 2008; 456: 98-101.
    • (2008) Nature , vol.456 , pp. 98-101
    • Novembre, J.1    Johnson, T.2    Bryc, K.3
  • 27
    • 49649084390 scopus 로고    scopus 로고
    • Correlation between genetic and geographic structure in Europe
    • Lao O, Lu TT, Nothnagel M et al: Correlation between genetic and geographic structure in Europe. Curr Biol 2008; 18: 1241-1248.
    • (2008) Curr Biol , vol.18 , pp. 1241-1248
    • Lao, O.1    Lu, T.T.2    Nothnagel, M.3
  • 28
    • 0003028629 scopus 로고    scopus 로고
    • Correlation
    • WH Freeman and Co (ed.). New York
    • Sokal R, Rohlf F: Correlation; in WH Freeman and Co (ed.): Biometry. New York, 2003, Vol 1, pp 555-608.
    • (2003) Biometry , vol.1 , pp. 555-608
    • Sokal, R.1    Rohlf, F.2
  • 31
    • 43149087535 scopus 로고    scopus 로고
    • New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree
    • DOI 10.1101/gr.7172008
    • Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF: New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 2008; 18: 830-838. (Pubitemid 351645073)
    • (2008) Genome Research , vol.18 , Issue.5 , pp. 830-838
    • Karafet, T.M.1    Mendez, F.L.2    Meilerman, M.B.3    Underhill, P.A.4    Zegura, S.L.5    Hammer, M.F.6
  • 32
    • 57649188638 scopus 로고    scopus 로고
    • Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the y chromosome
    • Di Gaetano C, Cerutti N, Crobu F, et al: Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome. Eur J Hum Genet 2009; 17: 91-99.
    • (2009) Eur J Hum Genet , vol.17 , pp. 91-99
    • Di Gaetano, C.1    Cerutti, N.2    Crobu, F.3
  • 33
    • 66749151442 scopus 로고    scopus 로고
    • Mitochondrial haplogroup U5b3: A distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians
    • Pala M, Achilli A, Olivieri A et al: Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 2009; 84: 814-821.
    • (2009) Am J Hum Genet , vol.84 , pp. 814-821
    • Pala, M.1    Achilli, A.2    Olivieri, A.3
  • 34
    • 0842264740 scopus 로고    scopus 로고
    • Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis
    • DOI 10.1007/s00439-003-1008-3
    • 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. (Pubitemid 38165530)
    • (2003) Human Genetics , vol.114 , Issue.1 , pp. 1-10
    • Fraumene, C.1    Petretto, E.2    Angius, A.3    Pirastu, M.4
  • 36
    • 77953811255 scopus 로고    scopus 로고
    • New approaches to population stratification in genome-wide association studies
    • Price AL, Zaitlen NA, Reich D, Patterson N: New approaches to population stratification in genome-wide association studies. Nat Rev Genet 2010; 11: 459-463.
    • (2010) Nat Rev Genet , vol.11 , pp. 459-463
    • Price, A.L.1    Zaitlen, N.A.2    Reich, D.3    Patterson, N.4
  • 37
    • 50949096560 scopus 로고    scopus 로고
    • The population reference sample, POPRES: A resource for population, disease, and pharmacological genetics research
    • Nelson MR, Bryc K, King KS et al: The population reference sample, POPRES: a resource for population, disease, and pharmacological genetics research. Am J Hum Genet 2008; 83: 347-358.
    • (2008) Am J Hum Genet , vol.83 , pp. 347-358
    • Nelson, M.R.1    Bryc, K.2    King, K.S.3
  • 38
    • 0037990109 scopus 로고    scopus 로고
    • Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: Implications for disease pathogenesis
    • DOI 10.1002/art.10948
    • Fiorillo MT, Cauli A, Carcassi C et al: Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. Arthritis Rheumatism 2003; 48: 1385-1389. (Pubitemid 36554537)
    • (2003) Arthritis and Rheumatism , vol.48 , Issue.5 , pp. 1385-1389
    • Fiorillo, M.T.1    Cauli, A.2    Carcassi, C.3    Bitti, P.P.4    Vacca, A.5    Passiu, G.6    Bettosini, F.7    Mathieu, A.8    Sorrentino, R.9
  • 39
    • 67349166489 scopus 로고    scopus 로고
    • Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations
    • Pardo L, Bochdanovits Z, de Geus E et al: Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet 2009; 17: 802-810.
    • (2009) Eur J Hum Genet , vol.17 , pp. 802-810
    • Pardo, L.1    Bochdanovits, Z.2    De Geus, E.3
  • 40
    • 37248998792 scopus 로고    scopus 로고
    • New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East
    • DOI 10.1038/sj.ejhg.5201906, PII 5201906
    • Thomas MG, Barnes I, Weale ME et al: New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East. Eur J Hum Genet 2008; 16: 124-134. (Pubitemid 350269246)
    • (2008) European Journal of Human Genetics , vol.16 , Issue.1 , pp. 124-134
    • Thomas, M.G.1    Barnes, I.2    Weale, M.E.3    Jones, A.L.4    Forster, P.5    Bradman, N.6    Pramstaller, P.P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.