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Rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility.


ABSTRACT:

Background

Solar radiation should be avoided in melanoma patients. Nevertheless, this is the main means by which the body produces vitamin D. Evidence suggests a protective role against cancer for vitamin D. Since vitamin D performs its function by binding the receptor encoded by the vitamin D-receptor gene (VDR), most studies have focused on polymorphisms (SNPs) within this gene. However, the gene encoding the vitamin D-binding protein (GC) appears in recent studies as a major player in the role of a serum vitamin D level regulator and in Cutaneous Melanoma (CM) predisposition.

Methods

We performed a case-control study of 12 polymorphisms on GC and 9 on VDR among 530 cases and 314 controls from Spanish population.

Results

We found association between SNP rs12512631, located 3'downstream of GC, and risk of CM that seems to fit a dominant model (OR 1.63 95%CI 1.23-2.17 p-value 7×10(-4)). This association remained Bonferroni's correction and after adjustment for potential confounders (p-value 3×10(-3)) and even after increasing the sample size to 1729 individuals (p-value 0.0129). Moreover, we confirmed evidence of an association between CM susceptibility and the linkage disequilibrium block marked by tag-SNP rs222016 (p-value 0.032). This block covers the GC intron 1 region, with probable regulatory functions.

Conclusion

To our knowledge, this is the first vitamin D pathway-related polymorphism study in melanoma risk conducted in the Spanish population. Furthermore, we show an association between polymorphisms in GC and melanoma risk, confirming recent studies in different populations.

SUBMITTER: Pena-Chilet M 

PROVIDER: S-EPMC3609832 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility.

Peña-Chilet Maria M   Ibarrola-Villava Maider M   Martin-González Manuel M   Feito Marta M   Gomez-Fernandez Cristina C   Planelles Dolores D   Carretero Gregorio G   Lluch Ana A   Nagore Eduardo E   Ribas Gloria G  

PloS one 20130327 3


<h4>Background</h4>Solar radiation should be avoided in melanoma patients. Nevertheless, this is the main means by which the body produces vitamin D. Evidence suggests a protective role against cancer for vitamin D. Since vitamin D performs its function by binding the receptor encoded by the vitamin D-receptor gene (VDR), most studies have focused on polymorphisms (SNPs) within this gene. However, the gene encoding the vitamin D-binding protein (GC) appears in recent studies as a major player in  ...[more]

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