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转移相关肺腺癌转录本 1 变体与黑色素瘤皮肤癌风险之间缺乏关联。

Lack of association of metastasis-associated lung adenocarcinoma transcript 1 variants with melanoma skin cancer risk.

机构信息

Section of Biology and Genetics, Department of Neurosciences, Biomedicine and Movement Sciences.

Section of Hygiene and Preventive, Department of Diagnostic and Public Health, Environmental and Occupational Medicine, University of Verona, Verona.

出版信息

Melanoma Res. 2019 Dec;29(6):660-663. doi: 10.1097/CMR.0000000000000605.

DOI:10.1097/CMR.0000000000000605
PMID:30870271
Abstract

The long noncoding RNA (lncRNA) metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) has been implicated in melanoma. Polymorphisms in MALAT1 may play a vital role in the progress of melanoma by its regulative function. However, potential genetic variants in MALAT1 affecting the risk of melanoma onset have not been explored. In this study, two single nucleotide polymorphisms (rs3200401 and rs619586) in MALAT1 were selected for genotyping of 334 melanoma patients and 291 cancer-free controls in an Italian population. The results showed that MALAT1 rs3200401 and rs619586 were not associated with melanoma risk. A further breakdown analysis by sex stratification also indicated a lack of association between these polymorphisms and melanoma. In addition, we tested 450 bp of the proximal 5´ flanking region of the gene for the presence of polymorphisms that could be associated with melanoma risk and found no variants in 96 melanoma patients. In conclusion, our results suggest that there is no contribution of MALAT1 rs3200401 and rs619586 polymorphisms or polymorphisms in the core promoter that could be associated with the risk of melanoma skin cancer in this specific study setting. Further validation will be required in larger studies involving different settings/larger populations in order to reach conclusive results.

摘要

长链非编码 RNA(lncRNA)转移相关肺腺癌转录本 1(MALAT1)已被牵涉到黑色素瘤中。MALAT1 的多态性可能通过其调节功能在黑色素瘤的进展中起着重要作用。然而,MALAT1 中潜在的遗传变异是否会影响黑色素瘤发病的风险尚未得到探索。在这项研究中,选择了 MALAT1 中的两个单核苷酸多态性(rs3200401 和 rs619586),对意大利人群中的 334 名黑色素瘤患者和 291 名无癌对照进行了基因分型。结果表明,MALAT1 rs3200401 和 rs619586 与黑色素瘤风险无关。按性别分层的进一步细分分析也表明,这些多态性与黑色素瘤之间没有关联。此外,我们检测了该基因近端 5'侧翼区 450bp 内是否存在与黑色素瘤风险相关的多态性,在 96 名黑色素瘤患者中未发现变异。总之,我们的研究结果表明,在本研究中,MALAT1 rs3200401 和 rs619586 多态性或核心启动子中的多态性与黑色素瘤皮肤癌的风险无关。需要在不同的研究环境/更大的人群中进行更大规模的验证,才能得出结论性的结果。

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