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Multiple Single Nucleotide Polymorphisms on Human Chromosome 19q13.2–3 Associate with Risk of Basal Cell Carcinoma¹

Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark [J. Y., E. R., L. B., B. A. N.]; Department of Medical Genetics, Shenyang Medical College, Shenyang 110031, Liaoning, People’s Republic of China [J. Y.]; Department of Biochemistry, Johns Hopkins School of Public Health, Baltimore, Maryland 21205 [M. H., L. G.]; and Institute of Occupational Health, Lersø Parkalle 105, DK-2100 Copenhagen O, Denmark [N. R. J., U. V.]

In this paper, we present evidence that alleles of several polymorphisms in the chromosomal region 19q13.2–3, encompassing the genes RAI and XPD, are associated with occurrence of basal cell carcinoma in Caucasian Americans. The association of one of these, RAI-intron1, is sufficiently strong to make mass significance unlikely (P = 0.004, ²). We interpret our combined data to indicate that a specific haplotype partly defined by the alleles of three single nucleotide polymorphisms, RAI intron1^G, RAI exon6^T, and XPD exon 6^C, is associated with a protective gene variant in a region spanning from XPD to ERCC1.

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