Multiple single nucleotide polymorphisms on human chromosome 19q13.2-3 associate with risk of Basal cell carcinoma.
2002; National Institutes of Health; Volume: 11; Issue: 11 Linguagem: Inglês
Autores
Jiaoyang Yin, Eszter Rockenbauer, Mohammad Hedayati, Nicklas Raun Jacobsen, Ulla Vogel, Lawrence I. Grossman, Lars Bolund, Bjørn A. Nexø,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoIn 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, chi(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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