Twelve single nucleotide polymorphisms on chromosome 19q13.2-13.3: Linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients

被引:32
作者
Yin, JY
Vogel, U
Gerdes, LU
Dybdahlk, M
Bolund, L
Nexo, BA [1 ]
机构
[1] Aarhus Univ, Inst Human Genet, DK-8000 Aarhus C, Denmark
[2] Natl Inst Occupat Hlth, Copenhagen, Denmark
[3] Univ Hosp, Aarhus Kommune Hosp, Dept Clin Biochem, Aarhus C, Denmark
[4] Shenyang Med Coll, Dept Med Genet, Shenyang, Peoples R China
关键词
linkage disequilibria; basal cell carcinoma; psoriasis; nucleotide polymorphism; epidemiology; DNA repair; DNA-REPAIR GENES; POPULATION-BASED COHORT; HEREDITARY FACTORS; LIGASE-I; SKIN; DAMAGE; CANCER; XRCC1; RISK; LIGHTCYCLER(TM);
D O I
10.1023/A:1020970428370
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The genetic susceptibility to basal cell carcinoma (BCC) among Danish psoriatic patients was investigated in association studies with 12 single nucleotide polymorphisms on chromosome 19q13.2-3. The results show a significant association between BCC and the A-allele of a polymorphism in ERCCI exon4 (Odds ratio 12; 95% Confidence Interval 1.17-124; p(chi(2), two-side)=0.019) and to a lesser extent with XPD exon6 (p=0.06). This is in accordance with recent studies of a different group of BCC cases (Rockenbauer et al. (in press) Carcinogenesis; Yin et al. (manuscript submitted for publication). Cancer Epidemiol. Biomarkers Prev), which places two highly influential markers between these two genes. The analysis also confirmed that considerable linkage disequilibrium exists between SNPs both within genes and between genes in this region. The combined studies suggest that genetic variation in nucleotide excision repair is of importance for the development of BCC.
引用
收藏
页码:27 / 37
页数:11
相关论文
共 32 条
[1]  
ATHAS WF, 1991, CANCER RES, V51, P5786
[2]   ASSIGNMENT OF THE GENE ENCODING DNA LIGASE-I TO HUMAN-CHROMOSOME 19Q13.2-13.3 [J].
BARNES, DE ;
KODAMA, KI ;
TYNAN, K ;
TRASK, BJ ;
CHRISTENSEN, M ;
DEJONG, PJ ;
SPURR, NK ;
LINDAHL, T ;
MOHRENWEISER, HW .
GENOMICS, 1992, 12 (01) :164-166
[3]  
Bataille V, 2000, BRIT J CANCER, V82, P247
[4]   The genetics of psoriasis: a complex disorder of the skin and immune system [J].
Bhalerao, J ;
Bowcock, AM .
HUMAN MOLECULAR GENETICS, 1998, 7 (10) :1537-1545
[5]   Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells [J].
Duell, EJ ;
Wiencke, JK ;
Cheng, TJ ;
Varkonyi, A ;
Zuo, ZF ;
Ashok, TDS ;
Mark, EJ ;
Wain, JC ;
Christiani, DC ;
Kelsey, KT .
CARCINOGENESIS, 2000, 21 (05) :965-971
[6]   Cancer risk associated with germline DNA mismatch repair gene mutations [J].
Dunlop, MG ;
Farrington, SM ;
Carothers, AD ;
Wyllie, AH ;
Sharp, L ;
Burn, J ;
Liu, B ;
Kinzler, KW ;
Vogelstein, B .
HUMAN MOLECULAR GENETICS, 1997, 6 (01) :105-110
[7]  
Dybdahl M, 1999, CANCER EPIDEM BIOMAR, V8, P77
[8]   Low DNA repair is a risk factor in skin carcinogenesis: a study of basal cell carcinoma in psoriasis patients [J].
Dybdahl, M ;
Frentz, G ;
Vogel, U ;
Wallin, H ;
Nexo, BA .
MUTATION RESEARCH-DNA REPAIR, 1999, 433 (01) :15-22
[9]   Developmental genes and cancer: Role of patched in basal cell carcinoma of the skin [J].
Gailani, MR ;
Bale, AE .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (15) :1103-1109
[10]   RETRACTED: BRCA1 required for transcription-coupled repair of oxidative DNA damage (Retracted article. See vol 300, pg 1657, June 13 2003) [J].
Gowen, LC ;
Avrutskaya, AV ;
Latour, AM ;
Koller, BH ;
Leadon, SA .
SCIENCE, 1998, 281 (5379) :1009-1012