Abstract
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, 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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Biomarkers, Tumor / genetics
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Carcinoma, Basal Cell / epidemiology*
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Carcinoma, Basal Cell / genetics*
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Chromosomes, Human, Pair 19 / genetics*
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Exons / genetics
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Family Health
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Female
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Gene Frequency / genetics
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Genetic Predisposition to Disease / genetics
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Genotype
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Humans
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Introns / genetics
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Linkage Disequilibrium / genetics
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Male
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Middle Aged
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Molecular Sequence Data
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Polymorphism, Single Nucleotide / genetics*
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Risk Factors
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Sequence Analysis, DNA
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Skin Neoplasms / epidemiology*
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Skin Neoplasms / genetics
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White People
Associated data
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GENBANK/AC005781
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GENBANK/AC008622
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GENBANK/AC010519
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GENBANK/L27710
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GENBANK/L47234
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GENBANK/M63796
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GENBANK/M89651