Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Approximately 1.1 billion people currently live in countries where consanguineous marriages are customary, and among them one in every three marriages is between cousins. Opinions diverge between those warning of the possible health risks to offspring and others who highlight the social benefits of consanguineous marriages.

The role of geography in human adaptation.

Various observations argue for a role of adaptation in recent human evolution, including results from genome-wide studies and analyses of selection signals at candidate genes. Here, we use genome-wide SNP data from the HapMap and CEPH-Human Genome Diversity Panel samples to study the geographic distributions of putatively selected alleles at a range of geographic scales. We find that the average allele frequency divergence is highly predictive of the most extreme F(ST) values across the whole genome.

Human optimal functioning: the genetics of positive orientation towards self, life, and the future.

Certain personality characteristics such as self-esteem, life satisfaction, and optimism are fundamental components of positive mental health status and well-being. There is consistent evidence that these traits tend to be substantially correlated in individuals. However, no previous studies have investigated the origin of such correlation.

Human evolution and its relevance for genetic epidemiology.

The invitation to write the prefatory article to this volume of the Annual Review of Genomics and Human Genetics inspired me to collect some thoughts, a few involving ideas that are not new, but perhaps worth resurrecting in light of recent observations made with the data emerging from the Human Genome Diversity Project (HGDP). Data from the many relevant studies based on the HGDP have been made public, as was originally the hope and plan of the project. Here I try to give a short summary of the evolution of modern humans, a unique species in many respects but of special interest to readers of this volume, and a few thoughts on the general rates of evolution that might be relevant to medical genetics and genetic epidemiology.

Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites.

Allelic frequencies of 182 tri- and tetra-autosomal microsatellites were used to examine phylogenetic relationships among 19 extant human populations. In particular, because the languages of the Basques and Hunza Burusho have been suggested to have an ancient relationship, this study sought to explore the genetic relationship between these two major language isolate populations and to compare them with other human populations. The work presented here shows that the microsatellite allelic diversity and the number of unique alleles were highest in sub-Saharan Africans.

Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms.

The genetic composition of the Norwegian population was investigated by analysing polymorphisms associated with both the mitochondrial DNA (mtDNA) and Y chromosome loci in a sample of 74 Norwegian males. The combination of their uniparental mode of inheritance and the absence of recombination make these haplotypic stretches of DNA the tools of choice in evaluating the different components of a population's gene pool. The sequencing of the Dloop and two diagnostic RFLPs (AluI 7025 and HinfI at 12 308) allowed us to classify the mtDNA molecules in 10 previously described groups.