Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
2008

Genetic Variation in Ashkenazi Jews

Sample size: 101 publication Evidence: moderate

Author Information

Author(s): Olshen Adam B, Gold Bert, Lohmueller Kirk E, Struewing Jeffery P, Satagopan Jaya, Stefanov Stefan A, Eskin Eleazar, Kirchhoff Tomas, Lautenberger James A, Klein Robert J, Friedman Eitan, Norton Larry, Ellis Nathan A, Viale Agnes, Lee Catherine S, Borgen Patrick I, Clark Andrew G, Offit Kenneth, Boyd Jeff

Primary Institution: Memorial Sloan-Kettering Cancer Center

Hypothesis

The younger overall age of Ashkenazi Jewish populations should permit a smaller number of SNPs to explain the overall genetic variability.

Conclusion

There were small but significant differences in measures of genetic diversity between Ashkenazi Jews and CEU populations, with implications for genome-wide association mapping.

Supporting Evidence

  • A small but significant global difference in allele frequencies between AJ and CEU was demonstrated.
  • Haplotype blocks were smaller in AJ compared to CEU.
  • LD in AJ was lower than expected by some measures and higher by others.

Takeaway

Scientists studied the DNA of Ashkenazi Jews to see how their genes differ from other groups, which helps in understanding diseases.

Methodology

Genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap individuals.

Potential Biases

Potential bias due to the selection of participants and the specific population studied.

Limitations

The study was limited to healthy individuals and may not represent the entire Ashkenazi Jewish population.

Participant Demographics

102 healthy Ashkenazi Jewish women, all four grandparents were Jewish and of Eastern European ancestry.

Statistical Information

P-Value

<0.001

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1186/1471-2156-9-14

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