rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility.
<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...
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oai:doaj.org-article:6deef1cc95934957bb232cdf77c528d42021-11-18T07:51:47Zrs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility.1932-620310.1371/journal.pone.0059607https://doaj.org/article/6deef1cc95934957bb232cdf77c528d42013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23544077/?tool=EBIhttps://doaj.org/toc/1932-6203<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 the role of a serum vitamin D level regulator and in Cutaneous Melanoma (CM) predisposition.<h4>Methods</h4>We performed a case-control study of 12 polymorphisms on GC and 9 on VDR among 530 cases and 314 controls from Spanish population.<h4>Results</h4>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.<h4>Conclusion</h4>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.Maria Peña-ChiletMaider Ibarrola-VillavaManuel Martin-GonzálezMarta FeitoCristina Gomez-FernandezDolores PlanellesGregorio CarreteroAna LluchEduardo NagoreGloria RibasPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 3, p e59607 (2013) |
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Medicine R Science Q Maria Peña-Chilet Maider Ibarrola-Villava Manuel Martin-González Marta Feito Cristina Gomez-Fernandez Dolores Planelles Gregorio Carretero Ana Lluch Eduardo Nagore Gloria Ribas rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| description |
<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 the role of a serum vitamin D level regulator and in Cutaneous Melanoma (CM) predisposition.<h4>Methods</h4>We performed a case-control study of 12 polymorphisms on GC and 9 on VDR among 530 cases and 314 controls from Spanish population.<h4>Results</h4>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.<h4>Conclusion</h4>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. |
| format |
article |
| author |
Maria Peña-Chilet Maider Ibarrola-Villava Manuel Martin-González Marta Feito Cristina Gomez-Fernandez Dolores Planelles Gregorio Carretero Ana Lluch Eduardo Nagore Gloria Ribas |
| author_facet |
Maria Peña-Chilet Maider Ibarrola-Villava Manuel Martin-González Marta Feito Cristina Gomez-Fernandez Dolores Planelles Gregorio Carretero Ana Lluch Eduardo Nagore Gloria Ribas |
| author_sort |
Maria Peña-Chilet |
| title |
rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| title_short |
rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| title_full |
rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| title_fullStr |
rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| title_full_unstemmed |
rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. |
| title_sort |
rs12512631 on the group specific complement (vitamin d-binding protein gc) implicated in melanoma susceptibility. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/6deef1cc95934957bb232cdf77c528d4 |
| work_keys_str_mv |
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