Why do the genes in two genetically identical people express themselves differently? Several teams worldwide are currently working on a map of the various regions involved in gene regulation, the decision a cell makes to express or suppress genetic predispositions. This pursuit is fundamental to the comprehension of the understanding of human disease.
Consumer products like 23 and Me allows consumers to take an active role in understanding the variety of genetic predispositions they carry in their chromosomes, but the cutting edge of academia remains focused on why those predispositions either do or do not express themselves.
Emmanouil Dermitzakis, Louis-Jeantet Professor at the Faculty of Medicine and member of the NCCR Frontiers in Genetics and the Institute of Genetics and Genomics of Geneva (IGE3), is a specialist in the genetics of complex traits. His international team analyzed samples of three different tissue types (adipose tissue, skin and blood cells) from more than 800 identical and fraternal twins.
“Our work adds to those who have previously demonstrated the contribution of common variants in the predisposition to these disorders”, said Emmanouil Dermitzakis. “Thanks to this new level of knowledge, and if we manage to adapt this methodology to search for these variants in each individual, this will be a powerful tool to help prognose the predisposition to certain diseases and more importantly understand the biological aetiology in order to develop and employ individualized treatments.”
Aeitiology, the study of the causes, origins, and implications of disease and other phenomena, leads the forefront of understanding disease risk at the genetic level.
Dermitzakis’ team uncovered 358 variants involved in the predisposition to certain diseases, previously not possible to identify by previous analytic methods.
In additional to consumer products like 23 and Me, the availability of approaches like measuring telomere length as a function of lifespan and longevity, remains a growing interest to both academic and consumer arenas.
Source: Emmanouil Dermitzakis, Louis-Jeantet Professor at the Faculty of Medicine and member of the NCCR Frontiers in Genetics and the Institute of Genetics and Genomics of Geneva (IGE3) http://www.unige.ch/
Nica AC, Parts L, Glass D, Nisbet J, Barrett A, Sekowska M, Travers M, Potter S, Grundberg E, Small K, Hedman AK, Bataille V, Tzenova Bell J, Surdulescu G, Dimas AS, Ingle C, Nestle FO, di Meglio P, Min JL, Wilk A, Hammond CJ, Hassanali N, Yang TP, Montgomery SB, O’Rahilly S, Lindgren CM, Zondervan KT, Soranzo N, Barroso I, Durbin R, Ahmadi K, Deloukas P, McCarthy MI, Dermitzakis ET, Spector TD, & MuTHER Consortium (2011). The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS genetics, 7 (2) PMID: 21304890