Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

@article{Durst2001RecentOA,
  title={Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.},
  author={Ronen Durst and Roberto Colombo and Shoshi Shpitzen and Liat Ben Avi and Yechiel Friedlander and Raymond Wexler and Frederick Johan Raal and David Adrian Marais and Joep C. Defesche and Michail Yu. Mandelshtam and Maritha J. Kotze and Eran Leitersdorf and Vardiella Meiner},
  journal={American journal of human genetics},
  year={2001},
  volume={68 5},
  pages={
          1172-88
        }
}
G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on disease expression. Index cases from Israel (n=46), South Africa (n=24), Russia (n=7), The Netherlands (n=1), and the United States (n=1) were enlisted. All trace their ancestry to Lithuania. A highly… CONTINUE READING

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