[Linkage disequilibrium in the human genome and its exploitation].

Abstract

This present review gives an overview on Linkage disequilibrium (LD), its measures and its different utilizations in human genetics studies. In the first part, we provide a detailed and a simplified presentation focusing on the definition of LD, its measures and the major software for its evaluation. Thereafter, we describe and discuss the biological and evolutionary mechanisms which create, remodel, maintain or destroy LD in human population. Consensus has now emerged on the pattern of LD in the genome which has a block-like organization with block of high disequilibrium interrupted by recombination hotspots. However, no standard method exists for the determination of such blocks and, more importantly, for the identification of TagSNP. This would yield inconsistencies between different studies of the same genes, compromising the practical use of TagSNP in association studies. The ACE gene is used to illustrate this. Will it be possible to identify consensus TagSNP that could be used consistently in all populations for testing association of candidate genes in common diseases? What is the part of myth and reality in what is called "individualized medicine"? We conclude that further LD studies are needed to get clear insights into this matter.