I am a PhD student in the Evolutionary Biology Unit at the Universitat Pompeu Fabra in Barcelona (2007-2011).
I have been working in the evolutionary history of genes associated to complex diseases, under the supervision of Prof. Arcadi Navarro
Such a great news! In this paper accepted in Human Genetics, we aimed to detect loci that may participate in the genetic architecture of the Pygmy height phenotype. Specifically, we aimed to detect alleles whose frequency in several African populations mimics the actual prevalence of height in those populations. On the bright side, this new method permits to associate alleles with phenotypes even when individual phenotypic data is not available (i.e. 1K Genomes data). Of course, this method works better when in front of i) differentiated phenotypes across populations ii) phenotypes that do not follow the clines of genetic diversity.
After detecting several locus, we show that a) they present an enrichment for different signals of recent positive selection and b) they are enriched for genes that have been associated to different bone phenotypes, enhancing its possible participation in the Pygmy phenotype.
In any case, I am very happy as a co-author...and great congratulations to David Comas, Oscar Lao and mostly Isabel Mendizabal!
The JBI2012 will take place in January 23-25, 2012 in Barcelona. I plan to talk about the GWAS project in the Phylogenetics and Evolution Session
Elodie's paper on primate CNV has been accepted in Genome Research. After strong efforts, Elodie and Fleur managed to identify segregating CNVs in 4 of the great apes: bonobos, chimpanzees, gorillas and orangutans. Striking evolutionary differences in natural selection pressures are found among species. My role focused in checking the evolutionary history of these loci in human populations. Congrats!
Nice story on Roma (Gypsy) mtDNA. In this paper, they analyzed mtDNA sequences from 214 Iberian Roma and compared to two databases of European and Indian mtDNA databases. They found low genetic diversity and, interestingly, a shared migration route shared by Roma from Poland, Lithuania, Portugal and Spain. Finally, they provide a rough estimate of the admixture with European host populations.
In this work, we show that genetic susceptibility to disease has been shaped differently between European and East Asians. Specifically, taking profit of >25 years of candidate gene association studies, we built a database of polymorphims and genes associated to disease. After calculating a measure of replication for each association, we observed that the degree of similarity in replication between Europeans and East Asians correlates with genetic differentiation; disease associations on genes that are very similar replicate more easily. Therefore, not all would be due to false positives: some of the lack of replication abunding in the field could be due to continental-specific disease variants! Anyhow, these results should be taken with caution until this hypothesis can be tested with much trustworthy GWAS...
