PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: Preliminary data on the influence of an exon 12 exon 23 haplotype
PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: Preliminary data on the influence of an exon 12 exon 23 haplotype
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DOI：
10.1002/em.20068
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发表时间：
2004-01-01
影响因子：
2.8
通讯作者：
Hoban, PR
中科院分区：
文献类型：
--
作者：
Strange, RC;El-Genidy, N;Hoban, PR
After first presentation with a basal cell carcinoma (BCC), patients demonstrate interindividual diversity in the rate of development of further BCCs (number/ year of follow-up). The mechanism for this variation is unknown. In this study, we evaluated whether PTCH variants mediate this phenomenon. We used negative binomial regression analysis to identify associations between BCC numbers/year and host characteristics, parameters of exposure to ultraviolet radiation (UVR), and PTCH exon 12(1686) C/T, intron 15(2560+ 9) G/C, and exon 23(3944) C/T genotypes and haplotypes in 279 BCC cases who presented with an initial tumor on the head/neck. PTCH genotypes were not significantly associated with BCCs/ year, although cases with two copies of the C-1686- C-3944 hoplotype developed significantly fewer BCCs/year than those without this hoplotype (rate ratio = 0.44; 95% CI = 0.27-0.71). Cases with one copy of T (1686)-T-3944 developed more BCCs/year (rate ratio = 2.46; 95% CI = 1.27-3.97) than those without the haplotype. We found no significant associations between BCCs/year and the other PTCH hoploty types studied. We reexamined the association of C-1686-C-3944 with BCCs/year in a model that included UVR exposure parameters (sunburning in childhood, sunbathing score, intermittency of exposure between 40 and 60 years of age, exposure in hours/year) and skin type, gender, and age at first presentation. The association between C-1686- C-3944 and BCCs/year remained significant (rate ratio = 0.441- 95% CI = 0.26-0.73 for two copies of the haplotype). The data show that allelic variation in PTCH contributes to the rate of development of BCC. (C) 2004 Wiley-Liss, lnc.
