Skip to main content
    • Aa
    • Aa
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 3
  • Cited by
    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Jenkins, W.D. Lipka, A.E. Fogleman, A.J. Delfino, K.R. Malhi, R.S. Hendricks, B. and Cristescu, M.E. 2016. Variance in disease risk: rural populations and genetic diversity. Genome, Vol. 59, Issue. 7, p. 519.

    Biino, Ginevra Portas, Laura Murgia, Federico Vaccargiu, Simona Parracciani, Debora Pirastu, Mario and Balduini, Carlo L. 2012. A population-based study of an Italian genetic isolate reveals that mean platelet volume is not a risk factor for thrombosis. Thrombosis Research, Vol. 129, Issue. 4, p. e8.

    Poveda, Alaitz Ibáñez, Ma Eugenia and Rebato, Esther 2012. Heritability and genetic correlations of obesity-related phenotypes among Roma people. Annals of Human Biology, Vol. 39, Issue. 3, p. 183.


History, geography and population structure influence the distribution and heritability of blood and anthropometric quantitative traits in nine Sardinian genetic isolates


Isolated founder populations which exhibit great genetic and environmental homogeneity provide an attractive setting for the study of quantitative traits (QTs). Geneticists have repeatedly turned to population isolates and the past successes have prompted increased interest among medical researchers. We studied nine small isolated villages of a secluded area of Sardinia (Ogliastra), all of them characterized by a few founders, high endogamy rates, slow population expansion and a distinct genetic makeup. Anthropometric and blood parameters, 43 QTs in all, were analysed in about 9000 voluntary subjects for whom extended genealogical information was available. We explored the distribution and examined mean differences of each trait among villages by analysis of variance (ANOVA). A heritability analysis with the variance component (VC) method was performed. Results show significant differences in the distribution of most traits between groups of villages located in two distinct geographical areas already identified by a previous population structure analysis, thus supporting the existence of differentiation among sub-populations in the same region. Heritability estimates range between 30 and 89%, demonstrating that genetic effects substantially contribute to phenotypic variation of all investigated traits and that this population provides excellent research conditions for gene-mapping projects. Results suggest that history, geographic location and population structure may have influenced the genetic and phenotypic features of these isolates. Our findings may be useful for the ongoing linkage and association studies in these isolates and suggest that a thorough characterization of population is valuable to better identify genes or variants that may be rare in the population at large and peculiar to single villages.

Corresponding author
Corresponding author: Institute of Population Genetics, National Council of Research, Traversa La Crucca, 3 Regione Baldinca, 07100 Sassari, Italy. Tel: (+39)079-2841301. Fax: (+39)079-2841399. e-mail:
Linked references
Hide All

This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

L. Almasy & J. Blangero (1998). Multipoint quantitative-trait linkage analysis in general pedigrees. American Journal of Human Genetics 62, 1981211.

A. Angius , P. M. Melis , L. Morelli , E. Petretto , G. Casu , G. B. Maestrale , C. Fraumene , D. Bebbere , P. Forabosco & M. Pirastu (2001). Archival demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits. Human Genetics 109, 198209.

M. Beekman , B. T. Heijmans , N. G. Martin , N. L. Pedersen , J. B. Whitfield , U. DeFaire , G. C. van Baal , H. Snieder , G. P. Vogler , P. E. Slagboom & D. I. Boomsma (2002). Heritabilities of apolipoprotein and lipid levels in three countries. Twin Research 5, 8797.

N. Cappello , S. Rendine , R. Griffo , G. E. Mameli , V. Succa , G. Vona & A. Piazza (1996). Genetic analysis of Sardinia: I. data on 12 polymorphisms in 21 linguistic domains. Annals of Human Genetics 60, 125141.

D. M. Evans , I. H. Frazer & N. G. Martin (1999). Genetic and environmental causes of variation in basal levels of blood cells. Twin Research 2, 250257.

A. Falchi , L. Giovannoni , C. M. Calò , I. S. Piras , P. Moral , G. Paoli , G. Vona & L. Varesi (2006). Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms. Journal of Human Genetics 51, 914.

C. Fraumene , E. M. Belle , L. Castrì , S. Sanna , G. Mancosu , M. Cosso , F. Marras , G. Barbujani , M. Pirastu & A. Angius (2006). High resolution analysis and phylogenetic network construction using complete mtDNA sequences in sardinian genetic isolates. Molecular Biology and Evolution 23, 21012111.

C. Fraumene , E. Petretto , A. Angius & M. Pirastu (2003). Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Human Genetics 114, 110.

H. O. Hartley & J. N. K. Rao (1967). Maximum likelihood estimation for the mixed analysis of variance model. Biometrika 54, 93108.

H. F. Lin , B. Boden-Albala , S. H. Juo , N. Park , T. Rundek & R. L. Sacco (2005). Heritabilities of the metabolic syndrome and its components in the Northern Manhattan Family Study. Diabetologia 48, 20062012.

A. Malhotra & J. K. Wolford (2005). Analysis of quantitative lipid traits in the genetics of NIDDM (GENNID) study. Diabetes 54, 3007–14.

G. Mancosu , G. Ledda & P. M. Melis (2003). PedNavigator: a pedigree drawing servlet for large and inbred populations. Bioinformatics 19, 669670.

F. Marroni , D. Grazio , C. Pattaro , M. Devoto & P. Pramstaller (2008). Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol. Italy. Human Heredity 65, 175182.

L. J. Martin , S. A. Cole , J. E. Hixson , M. C. Mahaney , S. A. Czerwinski , L. Almasy , J. Blangero & G. Comuzzie (2002). Genotype by smoking interaction for leptin levels in the San Antonio Family Heart Study. Genetic Epidemiology 22, 105115.

G. Pilia , W. M. Chen , A. Scuteri , M. Orrú , G. Albai , M. Dei , S. Lai , G. Usala , M. Lai , P. Loi , C. Mameli , L. Vacca , M. Deiana , N. Olla , M. Masala , A. Cao , S. S. Najjar , A. Terracciano , T. Nedorezov , A. Sharov , A. B. Zonderman , G. R. Abecasis , P. Costa , E. Lakatta & D. Schlessinger (2006). Heritability of cardiovascular and personality traits in 6.148 Sardinians. PLoS Genetics 2, e132.

G. Pistis , I. Piras , N. Pirastu , I. Persico , A. Sassu , A. Picciau , D. Prodi , C. Fraumene , E. Mocci , M. T. Manias , R. Atzeni , M. Cosso , M. Pirastu & A. Angius (2009). High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. PLoS One 4, e4654.

L. A. Weiss , L. Pan , M. Abney & C. Ober (2006). The sex-specific genetic architecture of quantitative traits in humans. Nature Genetics 38, 218222.

Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Genetics Research
  • ISSN: 0016-6723
  • EISSN: 1469-5073
  • URL: /core/journals/genetics-research
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
Type Description Title
Supplementary Materials

Portas supplementary material
Supplementary Figure 2

 Unknown (290 KB)
290 KB
Supplementary Materials

Portas supplementary material
Supplementary Figure 1

 Unknown (515 KB)
515 KB
Supplementary Materials

Portas supplementary material
Supplementary Table 1

 Unknown (114 KB)
114 KB