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本文引用的文献

1
Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia.GC 和 CASR 基因的多态性变异与维生素 D 代谢物浓度和结直肠腺瘤的相关性。
Cancer Epidemiol Biomarkers Prev. 2012 Feb;21(2):368-75. doi: 10.1158/1055-9965.EPI-11-0916. Epub 2011 Dec 5.
2
Vitamin D receptor polymorphisms in patients with cutaneous melanoma.维生素 D 受体多态性与皮肤黑色素瘤。
Int J Cancer. 2012 Jan 15;130(2):405-18. doi: 10.1002/ijc.26023. Epub 2011 Apr 25.
3
Vitamin D status in paediatric patients with cancer.儿科癌症患者的维生素 D 状况。
Pediatr Blood Cancer. 2011 Oct;57(4):594-8. doi: 10.1002/pbc.22963. Epub 2011 Feb 3.
4
Vitamin D status is associated with disease-free survival and overall survival time in patients with squamous cell carcinoma of the upper aerodigestive tract.维生素 D 状态与上呼吸消化道鳞癌患者的无病生存率和总生存时间相关。
Eur Arch Otorhinolaryngol. 2011 Aug;268(8):1201-1204. doi: 10.1007/s00405-010-1481-y. Epub 2011 Jan 8.
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Vitamin D insufficiency and prognosis in chronic lymphocytic leukemia.维生素 D 不足与慢性淋巴细胞白血病的预后。
Blood. 2011 Feb 3;117(5):1492-8. doi: 10.1182/blood-2010-07-295683. Epub 2010 Nov 3.
6
Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas.维生素 D 结合蛋白多态性与(多发性)基底细胞癌的发展无关。
Exp Dermatol. 2010 Dec;19(12):1103-5. doi: 10.1111/j.1600-0625.2010.01139.x. Epub 2010 Aug 31.
7
Vitamin D pathway gene variants and prostate cancer prognosis.维生素 D 通路基因变异与前列腺癌预后。
Prostate. 2010 Sep 15;70(13):1448-60. doi: 10.1002/pros.21180.
8
Common genetic determinants of vitamin D insufficiency: a genome-wide association study.常见的维生素 D 不足遗传决定因素:全基因组关联研究。
Lancet. 2010 Jul 17;376(9736):180-8. doi: 10.1016/S0140-6736(10)60588-0. Epub 2010 Jun 10.
9
Genome-wide association study of circulating vitamin D levels.全基因组关联研究循环维生素 D 水平。
Hum Mol Genet. 2010 Jul 1;19(13):2739-45. doi: 10.1093/hmg/ddq155. Epub 2010 Apr 23.
10
Amelogenin-based sex identification as a strategy to control the identity of DNA samples in genetic association studies.基于牙釉蛋白基因的性别鉴定策略在遗传关联研究中控制 DNA 样本身份的应用。
Pharmacogenomics. 2010 Mar;11(3):449-57. doi: 10.2217/pgs.10.14.

维生素 D 代谢相关多态性与黑色素瘤风险及预后的相关性研究:病例对照研究。

No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study.

机构信息

Department of Dermatology, Venereology, and Allergology, Georg August University Göttingen, Robert-Koch-Strasse 40, 37075, Göttingen, Germany.

出版信息

Arch Dermatol Res. 2012 Jul;304(5):353-61. doi: 10.1007/s00403-012-1243-3. Epub 2012 May 11.

DOI:10.1007/s00403-012-1243-3
PMID:22576141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3382284/
Abstract

Melanoma is one of the most aggressive human cancers. The vitamin D system contributes to the pathogenesis and prognosis of malignancies including cutaneous melanoma. An expression of the vitamin D receptor (VDR) and an anti-proliferative effect of vitamin D in melanocytes and melanoma cells have been shown in vitro. Studies examining associations of polymorphisms in genes coding for vitamin D metabolism-related proteins (1α-hydroxylase [CYP27B1], 1,25(OH)(2)D-24hydroxylase [CYP24A1], vitamin D-binding protein [VDBP]) and cancer risk are scarce, especially with respect to melanoma. Mainly VDR polymorphisms regarding melanoma risk and prognosis were examined although other vitamin D metabolism-related genes may also be crucial. In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. Except VDR rs731236 and VDR rs2107301, the other six polymorphisms have not been analyzed regarding melanoma before. To further improve the prevention as well as the treatment of melanoma, it is important to identify further genetic markers for melanoma risk as well as prognosis in addition to the crude phenotypic, demographic, and environmental markers used in the clinic today. A panel of genetic risk markers could help to better identify individuals at risk for melanoma development or worse prognosis. We, however, found that none of the polymorphisms tested was associated with melanoma risk as well as prognosis in logistic and linear regression models in our study population.

摘要

黑色素瘤是最具侵袭性的人类癌症之一。维生素 D 系统有助于包括皮肤黑色素瘤在内的恶性肿瘤的发病机制和预后。已经在体外证明了维生素 D 受体 (VDR) 的表达和维生素 D 在黑素细胞和黑色素瘤细胞中的抗增殖作用。研究检查了编码维生素 D 代谢相关蛋白(1α-羟化酶 [CYP27B1]、1,25(OH)(2)D-24 羟化酶 [CYP24A1]、维生素 D 结合蛋白 [VDBP])的基因多态性与癌症风险之间的关联的研究很少,特别是关于黑色素瘤。虽然其他维生素 D 代谢相关基因也可能至关重要,但主要检查了 VDR 多态性与黑色素瘤风险和预后的关系。在我们的基于医院的病例对照研究中,包括 305 名黑色素瘤患者和 370 名健康对照者,分析了 CYP27B1(rs4646536)、CYP24A1(rs927650)、VDBP(rs1155563、rs7041)和 VDR(rs757343、rs731236、rs2107301、rs7975232)基因中的单核苷酸多态性与黑色素瘤风险和预后的关系。除了 VDR rs731236 和 VDR rs2107301 之外,以前没有分析过其他六个多态性与黑色素瘤有关。除了今天临床使用的粗略表型、人口统计学和环境标志物外,为了进一步改善黑色素瘤的预防和治疗,识别除黑色素瘤风险和预后以外的进一步遗传标志物非常重要。一组遗传风险标志物可以帮助更好地识别黑色素瘤发展或预后较差的个体。然而,在我们的研究人群中,我们发现逻辑回归和线性回归模型中测试的多态性均与黑色素瘤风险和预后无关。