טכניון מכון טכנולוגי לישראל
הטכניון מכון טכנולוגי לישראל - בית הספר ללימודי מוסמכים  
Ph.D Thesis
Ph.D StudentShlush Liran
SubjectPopulation Substructure in Design and Analysis of Genomic
Mapping Studies
DepartmentDepartment of Medicine
Supervisor Professor Karl Skorecki
Full Thesis textFull thesis text - English Version


Abstract

Almost all populations even those considered isolated and homogeneous are in fact

sub structured at some level. Population substructure should be taken into account while designing a genetic mapping study, and furthermore might be used to advantage as in the case of admixture mapping.

The Druze population studied in this thesis demonstrates a substantial substructure which should be further incorporated in future genetic mapping studies among the Druze.

Similar substructure was noticed among Ashkenazi Jews, but did not biased the results of a case control candidate gene approach dealing with the role of the mitochondrial haplogroup J genotype and the centenarian phenotype. In the last part of this thesis we introduce innovative admixture mapping methodologies, which successfully replicated the results of prior studies dealing with the increased risk of African Americans to develop stage V chronic kidney disease. Taken together this thesis demonstrates the importance of combining the analysis of population genetic architecture into the field of genetic mapping.