Multiple single nucleotide polymorphisms on human chromosome 19q13.2-3 associate with risk of Basal cell carcinoma.
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.
Yin
Jiaoyang
J
Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark.
Rockenbauer
Eszter
E
Hedayati
Mohammad
M
Jacobsen
Nicklas Raun
NR
Vogel
Ulla
U
Grossman
Lawrence
L
Bolund
Lars
L
Nexø
Børn A
BA
D000483:Alleles; D014408:Biomarkers, Tumor / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000453:epidemiology* / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000453:epidemiology* / Q000235:genetics; D044465:White People
D014408:Biomarkers, Tumor