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Identified main genetic variants involved in response to HIV

This international collaboration has been the largest ever to have taken place in a large scale study on genetic differences between patients infected by HIV, and is the first study of this kind in the field of infectious disease. Catalan participants have been coordinated by Javier Martínez-Picado, ICREA research professor in the Foundation irsiCaixa of Hospital Germans Trias i Pujol, and Josep M. Miró, consultant of the Unit of Infectious Diseases and AIDS of Hospital Clínic-IDIBAPS of Barcelona, and had the collaboration of Hospital de la Santa Creu i Sant Pau, and Hospital Mútua de Terrassa.

Research has been conducted with the latest genomics and bioinformatics technologies, analysing 550,000 variations of the complete human genome in 486 patients, mostly European, preselected from 30,000 potential candidates.

These variations, known as simple nucleotide polymorphisms (SNPs), are single variations affecting only one nucleotide or base of the genomic sequence. Despite humans sharing 99.9% of the genome sequence, there are still 3 million genetic variations –which make us different from one another– 90% of which are due to SNPs. Hence, a good knowledge of these variations is highly valuable for the determination of the progression of AIDS.

During the present study, obtained genetic data was compared to blood virus load in patients during the first two years after the infection, and also to the rhythm of immune degradation as a result of the infection. This type of comparison, known as association study, permitted to deduct main genetic variations playing a central role in the control of viral infection.

Results point to two gene variants related to the immune system. More precisely, these variations are in a genetic region responsible for the determination of immune response capacity against a number of infectious diseases, including AIDS. These variations are located in the short arm of chromosome 6 in genes controlling HLA-
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Source:IDIBAPS - Institut d'Investigacions Biomèdiques August Pi i Sunyer


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