European Human Genetics Conference 2012 abstracts

[Polako]

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Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

Authors: L. M. Huckins1, V. Boraska1,2, C. Franklin1, J. Floyd1, Genetics Consortium of Anorexia Nervosa, Wellcome Trust Case Control Consortium, P. Sullivan3, D. Collier4, C. Bulik3, C. Tyler-Smith1, E. Zeggini1, I. Tachmazidou1;
1Wellcome Trust Sanger Institute, Hinxton, United Kingdom, 2University of Split, Split, Croatia, 3University of North Carolina, Chapel Hill, NC, United States, 4King's College, London, United Kingdom.

Abstract: The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2,907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip (UK, Dutch, Swedish, Finnish, German, Austrian, Polish, Northern Italian, Southern Italian, Greek, USA, Canadian, Czech, French, Norwegian). This offers a unique opportunity to study genomic variation within and across these populations, and establish genomic relationships with other publicly available populations of European ancestry. We have examined the allele frequency spectrum of common variants, and compared genomic characteristics across these populations and also with populations from the 1000 Genomes Project. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF)>5%; we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF>1% should be used. We have established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations (Novembre et al. 2008), some studied for the first time at this scale. We identified ancestry-informative markers using a method novel to the human genetics field, which may correct for sample size bias in smaller population sizes (following the bias-corrected entropy estimator proposed by Panzeri and Treves, 2007) and which allows for more efficient use of these SNPs. Finally, we investigated substructure within these 15 populations and identified SNPs that help capture hidden stratification. This work can inform the design and association results interpretation of trans-ethnic studies.

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Ho, ho, ho....

Analysis of mitochondrial DNA haplotypes of old human populations from the Bronze and Iron Age from Romania

Authors: A. Rodewald1, G. Cardos2, C. Tesio3;
1University of Hamburg, Hamburg, Germany, 2“Personal Genetics” Medical Genetics Center, Bucharest, Romania, 3University of Bucharest, Bucharest, Romania.

Abstract: Our genetic study was focused on old human populations from the Bronze and Iron Ages from Romania in order to analysed their genetic variation and their genetic kinship al mitochondrial DNA(mtDNA)level with today´s Romanian populations and other modern European populations.
The ancient DNA(aDNA)was extracted from skeletal remains of 50 individuals from the Bronze and Iron Age by a phenol-chloroform DNA extraction method.MtDNA HVR I and HVR II regions were amplified by PCR and sequenced by the dideoxy chain terminator method.The aDNA data were analysed in comparison with corresponding mtDNA data of modern Romanian people and other 11 European populations.The ancient mtDNA haplotypes were framed into 12 haplogroups. The most frequent mtDNA haplotype identified in the old individual sample from Romania was the CRS-like, and the most frequent haplogroup was H. Significant differences in haplogroup frequencies between the old people and modern Romanians were found. Low values of internal standard genetic diversity indices suggested reduced genetic variability within old human populations from the Bronze and Iron Age from Romania, in contrast to all modern European populations and also modern Romanians, which showed higher mitochondrial haplogroup diversity values. This fact might be the result of social and cultural local organization in small tribes, partially reproductively isolated. Concerning the genetic relationships at mitochondrial level, old human populations from Romania have shown closer genetic relationship to Turks of Thracian origin,while modern Romanians were closer to modern Bulgarian, Italian, Greek and Spanish populations.

[Hweinlant]

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Abstract: The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2,907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip (UK, Dutch, Swedish, Finnish, German, Austrian, Polish, Northern Italian, Southern Italian, Greek, USA, Canadian, Czech, French, Norwegian).

More Kuusamoans on the way.

[Lemminkäinen]

Hard to say. If they have used the disease history of same sample individuals that in earlier studies, then yes, definitely the same old story.