Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

摘要: Melanocortin-1 receptor (MC1R) gene variants are associated with fair skin and red hair and, independently of these, cutaneous malignant melanoma. The association MC1R nonmelanoma cancer is largely unknown. A total 838 subjects were included in the present study: 453 patients 385 no cancer. coding sequence human was tested using single-stranded conformation polymorphism analysis followed by sequencing unknown variants. Risk dependent on various estimated exposure odds ratio. We investigated whether variant alleles at increased risk developing if so, this mediated hair. 27 found. number carriers one, two, or three 379 (45.2%), 208 (24.8%), 7 (0.9%), respectively. strong between established, especially Arg151Cys Arg160Trp (P<.0001). Carriers two for squamous cell carcinoma (odds ratio 3.77; 95% confidence interval [CI] 2.11–6.78), nodular basal 2.26; CI 1.45–3.52), superficial multifocal 3.43; 1.92–6.15), compared wild-type alleles. one allele had half risk. highest relative risks found Asp84Glu, His260Pro, Asp294His alleles, only slightly lower Val60Leu, Val92Met, Arg142His, Arg151Cys, When stratified type color, showed that these factors did not materially change risks. These findings indicate important independent