Dataset Information

Genetic comparison of a Croatian isolate and CEPH European founders.

ABSTRACT: Human isolates have been postulated as a good resource for the identification of QTL due to reduced genetic diversity and a more homogeneous environment. Isolates may also have increased linkage disequilibrium (LD) due to small effective population size and, either loss or increase in frequency of alleles that are rare in the general population from which they originate. Here we investigate the difference in allele and genotype frequencies, LD and homozygous tracts between an isolate-several villages from the island of Vis in Croatia-and an outbred population of European origin: the Hapmap CEPH founders. Using the HumanHap300 v1 Genotyping BeadChip, we show that our population does not differ greatly from the reference CEU outbred population despite having a slightly higher proportion of monomorphic loci, a slightly higher long-range LD, and a greater proportion of individuals with long homozygous tracts. We conclude that genotyping arrays should perform equally well in our isolate as in outbred European populations for disease mapping studies and that SNP-trait associations discovered in our well-characterized Croatian isolate should be valid in the general European population from which they descend.

SUBMITTER: Navarro P

PROVIDER: S-EPMC2896723 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

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Genetic comparison of a Croatian isolate and CEPH European founders.

Navarro Pau P Vitart Véronique V Hayward Caroline C Tenesa Albert A Zgaga Lina L Juricic Danica D Polasek Ozren O Hastie Nicholas D ND Rudan Igor I Campbell Harry H Wright Alan F AF Haley Chris S CS Knott Sara A SA

Genetic epidemiology 20100201 2

Human isolates have been postulated as a good resource for the identification of QTL due to reduced genetic diversity and a more homogeneous environment. Isolates may also have increased linkage disequilibrium (LD) due to small effective population size and, either loss or increase in frequency of alleles that are rare in the general population from which they originate. Here we investigate the difference in allele and genotype frequencies, LD and homozygous tracts between an isolate-several vil ...[more]

PMID: 19697321

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Project description:BackgroundHealth practice guidelines (HPGs) are important tools for the translation of evidence into practice. Reporting Items for Practice Guidelines in HealThcare (RIGHT) checklist provides guidance on reporting health practice guidelines (HPGs). We assessed the reporting completeness and quality of a set of national (Croatian) and relevant transnational (European) HPGs.MethodsThe national sample included all HPGs published in the official journal of the Croatian Medical Association in 2014-2016. We searched PubMed to identify relevant European guidelines (n = 24). Two independent reviewers assessed the adherence with the items on the RIGHT checklist. Kappa score was used to measure the level of agreement. Frequentist and Bayes statistics Bayes factor (BF10) was used to evaluate the differences between the national and transnational HPGs.ResultsOverall, Croatian and European HPGs adhered to less than 50% of RIGHT checklist items. Croatian HPGs reported a median of 14.0 (95% CI 13.0-15.0) RIGHT reporting items, and European counterparts reported a median of 16.0 (95% CI 14.0-17.2) out of the total of 35 checklist items (Mann Whitney U test, P = 0.048; BF10 = 1.543). European HPGs were better than Croatian HPGs in reporting stakeholder involvement and values and preferences (BF10 = 80.63), as well as describing the implications of costs and resources (BF10 = 55.15). Croatian HPGs better reported HPGs specified aims (BF10 = 16.90), primary intended users (BF10 = 8.70), and sources of funding (BF10 = 122.90). Most insufficiently reported items for both HPG sets were defining the guideline questions and clear outcomes, quality assurance, management of funding and conflicts of interest, and guideline limitations.ConclusionsImportant methodological details are missing from most published HPGs at national and transnational levels. To ensure better quality and adequate use of HPGs, reporting guidelines should be endorsed and used by developers and users alike.

Dataset Information

Genetic comparison of a Croatian isolate and CEPH European founders.

Publications

Genetic comparison of a Croatian isolate and CEPH European founders.

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