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Mutagenesis, Vol. 16, No. 6, 475-478, November 2001
© 2001 UK Environmental Mutagen Society/Oxford University Press

Ethnic variation in genotype frequencies of a p53 intron 7 polymorphism

Petra Berggren1,2,4, Rajiv Kumar1, Gunnar Steineck2, Masayoshi Ichiba3 and Kari Hemminki1

1 Department of Biosciences at Novum, Karolinska Institute, 141 57 Huddinge, Sweden, 2 Clinical Cancer Epidemiology and Clinical Oncology, Department of Oncology-Pathology, Karolinska Hospital, 171 76 Stockholm, Sweden and 3 Department of Community Health Science, Saga Medical School, Saga 849, Japan

Using a PCR–restriction enzyme-based method we found large ethnic variations when a C->T polymorphism in the human p53 gene at position 14181 in intron 7 was studied in Finnish, Polish, Hungarian, Italian, Japanese, Indian and Chinese populations. The largest variations were found between Caucasian and Asian, genotype frequencies varied from C 0.95 and T 0.05 in the Finnish population to C 0.67 and T 0.33 in the Chinese population, the relative risk (RR) for T being 6.5 (95% CI 3.4–12.3, P < 0.001). Variations were also found between Finnish and Italian and between Italian and Chinese (RR for T 2.4, 95% CI 1.2–4.9 and 2.7, 95% CI 1.7–4.2, respectively).

4 To whom correspondence should be addressed at: Department of Biosciences at Novum, Karolinska Institute, 141 57 Huddinge, Sweden. Tel: +46 8 608 92 38; Fax: +46-8–608 15 01; Email: petra.berggren{at}cnt.ki.se


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