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Volumn 21, Issue 1, 2013, Pages 89-94

Small effective population size and genetic homogeneity in the Val Borbera isolate

(15)  Colonna, Vincenza a,b   Pistis, Giorgio c   Bomba, Lorenzo b,d   Mona, Stefano e   Matullo, Giuseppe f,g   Boano, Rosa f   Sala, Cinzia c   Viganò, Fiammetta c   Torroni, Antonio h   Achilli, Alessandro i   Hooshiar Kashani, Baharak h   Malerba, Giovanni j   Gambaro, Giovanni k   Soranzo, Nicole b   Toniolo, Daniela c,l  


Author keywords

effective population size; genetic isolates; linkage disequilibrium; mitochondrial DNA variation

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84871242186     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.113     Document Type: Article
Times cited : (30)

References (53)
  • 1
    • 79953212557 scopus 로고    scopus 로고
    • A rare variant in myh6 is associated with high risk of sick sinus syndrome
    • Holm H, Gudbjartsson DF, Sulem P et al: A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 2011; 43: 316-320.
    • (2011) Nat Genet , vol.43 , pp. 316-320
    • Holm, H.1    Gudbjartsson, D.F.2    Sulem, P.3
  • 2
    • 80055001747 scopus 로고    scopus 로고
    • Identification of low-frequency variants associated with gout and serum uric acid levels
    • Sulem P, Gudbjartsson DF, Walters GB et al: Identification of low-frequency variants associated with gout and serum uric acid levels. Nat Genet 2011; 43: 1127-1130.
    • (2011) Nat Genet , vol.43 , pp. 1127-1130
    • Sulem, P.1    Gudbjartsson, D.F.2    Walters, G.B.3
  • 3
    • 0037730142 scopus 로고    scopus 로고
    • Anxiety with panic disorder linked to chromosome 9q in Iceland
    • Thorgeirsson TE, Oskarsson H, Desnica N et al: Anxiety with panic disorder linked to chromosome 9q in Iceland. Am J Hum Genet 2003; 72: 1221-1230.
    • (2003) Am J Hum Genet , vol.72 , pp. 1221-1230
    • Thorgeirsson, T.E.1    Oskarsson, H.2    Desnica, N.3
  • 4
    • 55849148831 scopus 로고    scopus 로고
    • Isolated populations and complex disease gene identification
    • Kristiansson K, Naukkarinen J, Peltonen L: Isolated populations and complex disease gene identification. Genome Biol 2008; 9: 109.
    • (2008) Genome Biol , vol.9 , pp. 109
    • Kristiansson, K.1    Naukkarinen, J.2    Peltonen, L.3
  • 5
    • 0034574603 scopus 로고    scopus 로고
    • Use of population isolates for mapping complex traits
    • Peltonen L, Palotie A, Lange K: Use of population isolates for mapping complex traits. Nat Rev Genet 2000; 1: 182-190.
    • (2000) Nat Rev Genet , vol.1 , pp. 182-190
    • Peltonen, L.1    Palotie, A.2    Lange, K.3
  • 6
    • 60349093708 scopus 로고    scopus 로고
    • Fundamental concepts in genetics: Effective population size and patterns of molecular evolution and variation
    • Charlesworth B: Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation. Nat Rev Genet 2009; 10: 195-205.
    • (2009) Nat Rev Genet , vol.10 , pp. 195-205
    • Charlesworth, B.1
  • 7
    • 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
  • 8
    • 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
  • 9
    • 50449089222 scopus 로고    scopus 로고
    • Detection of sharing by descent, long-range phasing and haplotype imputation
    • Kong A, Masson G, Frigge ML et al: Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet 2008; 40: 1068-1075.
    • (2008) Nat Genet , vol.40 , pp. 1068-1075
    • Kong, A.1    Masson, G.2    Frigge, M.L.3
  • 10
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini J, Howie B: Genotype imputation for genome-wide association studies. Nat Rev Genet 2010; 11: 499-511.
    • (2010) Nat Rev Genet , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 11
    • 82355190213 scopus 로고    scopus 로고
    • Identity-by-descent-based phasing and imputation in founder populations using graphical models
    • Palin K, Campbell H, Wright AF, Wilson JF, Durbin R: Identity-by-descent- based phasing and imputation in founder populations using graphical models. Genet Epidemiol 2011; 35: 853-860.
    • (2011) Genet Epidemiol , vol.35 , pp. 853-860
    • Palin, K.1    Campbell, H.2    Wright, A.F.3    Wilson, J.F.4    Durbin, R.5
  • 12
    • 70449597270 scopus 로고    scopus 로고
    • Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes
    • Traglia M, Sala C, Masciullo C et al: Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One 2009; 4: e7554.
    • (2009) PLoS One , vol.4
    • Traglia, M.1    Sala, C.2    Masciullo, C.3
  • 13
    • 84855929976 scopus 로고    scopus 로고
    • Computer-based genealogy reconstruction in founder populations
    • Milani G, Masciullo C, Sala C et al: Computer-based genealogy reconstruction in founder populations. Biomed Inform 2011; 44: 997-1003.
    • (2011) Biomed Inform , vol.44 , pp. 997-1003
    • Milani, G.1    Masciullo, C.2    Sala, C.3
  • 14
    • 77957753324 scopus 로고    scopus 로고
    • Inference of unexpected genetic relatedness among individuals in HapMap Phase III
    • Pemberton TJ, Wang C, Li JZ, Rosenberg NA: Inference of unexpected genetic relatedness among individuals in HapMap Phase III. Am J Hum Genet 2010; 87: 457-464.
    • (2010) Am J Hum Genet , vol.87 , pp. 457-464
    • Pemberton, T.J.1    Wang, C.2    Li, J.Z.3    Rosenberg, N.A.4
  • 15
    • 78149317307 scopus 로고    scopus 로고
    • Prevalence of CKD in northeastern Italy: Results of the INCIPE study and comparison with NHANES
    • Gambaro G, Yabarek T, Graziani MS et al: Prevalence of CKD in northeastern Italy: results of the INCIPE study and comparison with NHANES. Clin J Am Soc Nephrol 2010; 5: 1946-1953.
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 1946-1953
    • Gambaro, G.1    Yabarek, T.2    Graziani, M.S.3
  • 16
    • 12144289934 scopus 로고    scopus 로고
    • The western and eastern roots of the saami-the story of genetic 'outliers' told by mitochondrial DNA and y chromosomes
    • Tambets K, Rootsi S, Kivisild T et al: The western and eastern roots of the Saami-the story of genetic 'outliers' told by mitochondrial DNA and Y chromosomes. Am J Hum Genet 2004; 74: 661-682.
    • (2004) Am J Hum Genet , vol.74 , pp. 661-682
    • Tambets, K.1    Rootsi, S.2    Kivisild, T.3
  • 17
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • Altshuler DM, Gibbs RA, Peltonen L et al: Integrating common and rare genetic variation in diverse human populations. Nature 2010; 467: 52-58.
    • (2010) Nature , vol.467 , pp. 52-58
    • Altshuler, D.M.1    Gibbs, R.A.2    Peltonen, L.3
  • 18
    • 65249157933 scopus 로고    scopus 로고
    • Diagnostic accuracy of a reagent strip for assessing urinary albumin excretion in the general population
    • Graziani MS, Gambaro G, Mantovani L et al: Diagnostic accuracy of a reagent strip for assessing urinary albumin excretion in the general population. Nephrol Dial Transplant 2009; 24: 1490-1494.
    • (2009) Nephrol Dial Transplant , vol.24 , pp. 1490-1494
    • Graziani, M.S.1    Gambaro, G.2    Mantovani, L.3
  • 19
    • 67349176068 scopus 로고    scopus 로고
    • Genetics in geographically structured populations: Defining, estimating and interpreting F(ST)
    • Holsinger KE, Weir BS: Genetics in geographically structured populations: defining, estimating and interpreting F(ST). Nat Rev Genet 2009; 10: 639-650.
    • (2009) Nat Rev Genet , vol.10 , pp. 639-650
    • Holsinger, K.E.1    Weir, B.S.2
  • 21
    • 69749099417 scopus 로고    scopus 로고
    • Fast model-based estimation of ancestry in unrelated individuals
    • Alexander DH, Novembre J, Lange K: Fast model-based estimation of ancestry in unrelated individuals. Genome Res 2009; 19: 1655-1664.
    • (2009) Genome Res , vol.19 , pp. 1655-1664
    • Alexander, D.H.1    Novembre, J.2    Lange, K.3
  • 22
    • 64149094545 scopus 로고    scopus 로고
    • Linkage analysis with dense SNP maps in isolated populations
    • Bellenguez C, Ober C, Bourgain C: Linkage analysis with dense SNP maps in isolated populations. Hum Hered 2009; 68: 87-97.
    • (2009) Hum Hered , vol.68 , pp. 87-97
    • Bellenguez, C.1    Ober, C.2    Bourgain, C.3
  • 23
  • 24
    • 73349108482 scopus 로고    scopus 로고
    • A genealogical interpretation of principal components analysis
    • McVean G: A genealogical interpretation of principal components analysis. PLoS Genet 2009; 5: e1000686.
    • (2009) PLoS Genet , vol.5
    • McVean, G.1
  • 25
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 26
    • 79957956814 scopus 로고    scopus 로고
    • Human population dispersal 'Out of Africa' estimated from linkage disequilibrium and allele frequencies of SNPs
    • McEvoy BP, Powell JE, Goddard ME, Visscher PM: Human population dispersal 'Out of Africa' estimated from linkage disequilibrium and allele frequencies of SNPs. Genome Res 2011; 21: 821-829.
    • (2011) Genome Res , vol.21 , pp. 821-829
    • McEvoy, B.P.1    Powell, J.E.2    Goddard, M.E.3    Visscher, P.M.4
  • 27
    • 34147165220 scopus 로고    scopus 로고
    • Recent human effective population size estimated from linkage disequilibrium
    • Tenesa A, Navarro P, Hayes BJ et al: Recent human effective population size estimated from linkage disequilibrium. Genome Res 2007; 17: 520-526.
    • (2007) Genome Res , vol.17 , pp. 520-526
    • Tenesa, A.1    Navarro, P.2    Hayes, B.J.3
  • 28
    • 0242500969 scopus 로고    scopus 로고
    • Novel multilocus measure of linkage disequilibrium to estimate past effective population size
    • Hayes BJ, Visscher PM, McPartlan HC, Goddard ME: Novel multilocus measure of linkage disequilibrium to estimate past effective population size. Genome Res 2003; 13: 635-643.
    • (2003) Genome Res , vol.13 , pp. 635-643
    • Hayes, B.J.1    Visscher, P.M.2    McPartlan, H.C.3    Goddard, M.E.4
  • 29
    • 26044441323 scopus 로고    scopus 로고
    • Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies
    • Fenner JN: Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies. Am J Phys Anthropol 2005; 128: 415-423.
    • (2005) Am J Phys Anthropol , vol.128 , pp. 415-423
    • Fenner, J.N.1
  • 30
    • 79958285686 scopus 로고    scopus 로고
    • Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole
    • Achilli A, Olivieri A, Pala M et al: Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. PLoS One 2011; 6: e21029.
    • (2011) PLoS One , vol.6
    • Achilli, A.1    Olivieri, A.2    Pala, M.3
  • 31
    • 38649110663 scopus 로고    scopus 로고
    • BEAST: Bayesian evolutionary analysis by sampling trees
    • Drummond AJ, Rambaut A: BEAST: Bayesian evolutionary analysis by sampling trees. BMC Evol Biol 2007; 7: 214.
    • (2007) BMC Evol Biol , vol.7 , pp. 214
    • Drummond, A.J.1    Rambaut, A.2
  • 32
    • 0022376704 scopus 로고
    • Dating of the human-ape splitting by a molecular clock of mitochondrial DNA
    • Hasegawa M, Kishino H, Yano T: Dating of the human-ape splitting by a molecular clock of mitochondrial DNA. J Mol Evol 1985; 22: 160-174.
    • (1985) J Mol Evol , vol.22 , pp. 160-174
    • Hasegawa, M.1    Kishino, H.2    Yano, T.3
  • 33
    • 60549111699 scopus 로고    scopus 로고
    • Bayesian inference of population size history from multiple loci
    • Heled J, Drummond AJ: Bayesian inference of population size history from multiple loci. BMC Evol Biol 2008; 8: 289.
    • (2008) BMC Evol Biol , vol.8 , pp. 289
    • Heled, J.1    Drummond, A.J.2
  • 34
    • 0029794184 scopus 로고    scopus 로고
    • Origin and evolution of Native American mtDNA variation: A reappraisal
    • Forster P, Harding R, Torroni A, Bandelt HJ: Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 1996; 59: 935-945.
    • (1996) Am J Hum Genet , vol.59 , pp. 935-945
    • Forster, P.1    Harding, R.2    Torroni, A.3    Bandelt, H.J.4
  • 35
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • Frazer KA, Ballinger DG, Cox DR et al: A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449: 851-861.
    • (2007) Nature , vol.449 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3
  • 36
    • 38049164192 scopus 로고    scopus 로고
    • Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia
    • Lencz T, Lambert C, DeRosse P et al: Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci USA 2007; 104: 19942-19947.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 19942-19947
    • Lencz, T.1    Lambert, C.2    Derosse, P.3
  • 39
    • 34249040258 scopus 로고    scopus 로고
    • Campora: A young genetic isolate in South Italy
    • Colonna V, Nutile T, Astore M et al: Campora: a young genetic isolate in South Italy. Hum Hered 2007; 64: 123-135.
    • (2007) Hum Hered , vol.64 , pp. 123-135
    • Colonna, V.1    Nutile, T.2    Astore, M.3
  • 40
    • 79961091828 scopus 로고    scopus 로고
    • Demographic history and rare allele sharing among human populations
    • Gravel S, Henn BM, Gutenkunst RN et al: Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci USA 2011; 108: 11983-11988.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 11983-11988
    • Gravel, S.1    Henn, B.M.2    Gutenkunst, R.N.3
  • 41
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst RN, Hernandez RD, Williamson SH, Bustamante CD: Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet 2009; 5: e1000695.
    • (2009) PLoS Genet , vol.5
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 43
    • 65549126774 scopus 로고    scopus 로고
    • Genetic structure of Europeans: A view from the North-East
    • Nelis M, Esko T, Magi R et al: Genetic structure of Europeans: a view from the North-East. PLoS One 2009; 4: e5472.
    • (2009) PLoS One , vol.4
    • Nelis, M.1    Esko, T.2    Magi, R.3
  • 44
    • 77958495096 scopus 로고    scopus 로고
    • Population structure and genome-wide patterns of variation in Ireland and Britain
    • O'Dushlaine CT, Morris D, Moskvina V et al: Population structure and genome-wide patterns of variation in Ireland and Britain. Eur J Hum Genet 2010; 18: 1248-1254.
    • (2010) Eur J Hum Genet , vol.18 , pp. 1248-1254
    • O'Dushlaine, C.T.1    Morris, D.2    Moskvina, V.3
  • 45
    • 70450278912 scopus 로고    scopus 로고
    • Comparing population structure as inferred from genealogical versus genetic information
    • Colonna V, Nutile T, Ferrucci RR et al: Comparing population structure as inferred from genealogical versus genetic information. Eur J Hum Genet 2009; 17: 1635-1641.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1635-1641
    • Colonna, V.1    Nutile, T.2    Ferrucci, R.R.3
  • 46
    • 0034758281 scopus 로고    scopus 로고
    • Gene genealogies in a metapopulation
    • Wakeley J, Aliacar N: Gene genealogies in a metapopulation. Genetics 2001; 159: 893-905.
    • (2001) Genetics , vol.159 , pp. 893-905
    • Wakeley, J.1    Aliacar, N.2
  • 47
    • 34250717529 scopus 로고    scopus 로고
    • Stepping-stone spatial structure causes slow decay of linkage disequilibrium and shifts the site frequency spectrum
    • De A, Durrett R: Stepping-stone spatial structure causes slow decay of linkage disequilibrium and shifts the site frequency spectrum. Genetics 2007; 176: 969-981.
    • (2007) Genetics , vol.176 , pp. 969-981
    • De, A.1    Durrett, R.2
  • 48
    • 0037227366 scopus 로고    scopus 로고
    • Intra-deme molecular diversity in spatially expanding populations
    • Ray N, Currat M, Excoffier L: Intra-deme molecular diversity in spatially expanding populations. Mol Biol Evol 2003; 20: 76-86.
    • (2003) Mol Biol Evol , vol.20 , pp. 76-86
    • Ray, N.1    Currat, M.2    Excoffier, L.3
  • 49
    • 67849119548 scopus 로고    scopus 로고
    • The impact of sampling schemes on the site frequency spectrum in nonequilibrium subdivided populations
    • Stadler T, Haubold B, Merino C, Stephan W, Pfaffelhuber P: The impact of sampling schemes on the site frequency spectrum in nonequilibrium subdivided populations. Genetics 2009; 182: 205-216.
    • (2009) Genetics , vol.182 , pp. 205-216
    • Stadler, T.1    Haubold, B.2    Merino, C.3    Stephan, W.4    Pfaffelhuber, P.5
  • 50
    • 0032736182 scopus 로고    scopus 로고
    • Nonequilibrium migration in human history
    • Wakeley J: Nonequilibrium migration in human history. Genetics 1999; 153: 1863-1871.
    • (1999) Genetics , vol.153 , pp. 1863-1871
    • Wakeley, J.1
  • 51
    • 83055161438 scopus 로고    scopus 로고
    • New gene functions in megakaryopoiesis and platelet formation
    • Gieger C, Radhakrishnan A, Cvejic A et al: New gene functions in megakaryopoiesis and platelet formation. Nature 2011; 480: 201-208.
    • (2011) Nature , vol.480 , pp. 201-208
    • Gieger, C.1    Radhakrishnan, A.2    Cvejic, A.3
  • 52
    • 79959824142 scopus 로고    scopus 로고
    • Multiple loci are associated with white blood cell phenotypes
    • Nalls MA, Couper DJ, Tanaka T et al: Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011; 7: e1002113.
    • (2011) PLoS Genet , vol.7
    • Nalls, M.A.1    Couper, D.J.2    Tanaka, T.3
  • 53
    • 80053383403 scopus 로고    scopus 로고
    • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
    • Wain LV, Verwoert GC, O'Reilly PF et al: Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011; 43: 1005-1011.
    • (2011) Nat Genet , vol.43 , pp. 1005-1011
    • Wain, L.V.1    Verwoert, G.C.2    O'Reilly, P.F.3


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