{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T09:18:34Z","timestamp":1708161514491},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T00:00:00Z","timestamp":1099872000000},"content-version":"vor","delay-in-days":312,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Environ and Mol Mutagen"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010up). The mechanism for this variation is unknown. In this study, we evaluated whether <jats:italic>PTCH<\/jats:italic> 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 <jats:italic>PTCH<\/jats:italic> exon 12<jats:sup>1686<\/jats:sup> C\/T, intron 15<jats:sup>2560+9<\/jats:sup> G\/C, and exon 23<jats:sup>3944<\/jats:sup> C\/T genotypes and haplotypes in 279 BCC cases who presented with an initial tumor on the head\/neck. <jats:italic>PTCH<\/jats:italic> genotypes were not significantly associated with BCCs\/year, although cases with two copies of the C<jats:sup>1686<\/jats:sup>\u2010C<jats:sup>3944<\/jats:sup> haplotype developed significantly fewer BCCs\/year than those without this haplotype (rate ratio = 0.44; 95% CI = 0.27\u20130.71). Cases with one copy of T<jats:sup>1686<\/jats:sup>\u2010T<jats:sup>3944<\/jats:sup> developed more BCCs\/year (rate ratio = 2.46; 95% CI = 1.27\u20133.97) than those without the haplotype. We found no significant associations between BCCs\/year and the other <jats:italic>PTCH<\/jats:italic> haplotypes studied. We reexamined the association of C<jats:sup>1686<\/jats:sup>\u2010C<jats:sup>3944<\/jats:sup> 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<jats:sup>1686<\/jats:sup>\u2010C<jats:sup>3944<\/jats:sup> and BCCs\/year remained significant (rate ratio = 0.44; 95% CI = 0.26\u20130.73 for two copies of the haplotype). The data show that allelic variation in <jats:italic>PTCH<\/jats:italic> contributes to the rate of development of BCC. Environ. Mol. Mutagen., 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/em.20068","type":"journal-article","created":{"date-parts":[[2004,11,9]],"date-time":"2004-11-09T00:23:07Z","timestamp":1099959787000},"page":"469-476","source":"Crossref","is-referenced-by-count":10,"title":["<i>PTCH<\/i> polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow\u2010up: Preliminary data on the influence of an exon 12\u2010exon 23 haplotype"],"prefix":"10.1002","volume":"44","author":[{"given":"Richard C.","family":"Strange","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noha","family":"El\u2010Genidy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudarshan","family":"Ramachandran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy 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