墨西哥西部基底细胞癌患者的 PTCH1 基因变异 rs357564、rs2236405、rs2297086 和 rs41313327、mRNA 和组织表达。

IF 2.6 4区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY
Marianela Zambrano-Román, Jorge R. Padilla-Gutiérrez, Yeminia Valle, José F. Muñoz-Valle, Elizabeth Guevara-Gutiérrez, Diana Emilia Martínez-Fernández, Emmanuel Valdés-Alvarado
{"title":"墨西哥西部基底细胞癌患者的 PTCH1 基因变异 rs357564、rs2236405、rs2297086 和 rs41313327、mRNA 和组织表达。","authors":"Marianela Zambrano-Román,&nbsp;Jorge R. Padilla-Gutiérrez,&nbsp;Yeminia Valle,&nbsp;José F. Muñoz-Valle,&nbsp;Elizabeth Guevara-Gutiérrez,&nbsp;Diana Emilia Martínez-Fernández,&nbsp;Emmanuel Valdés-Alvarado","doi":"10.1002/jcla.25010","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Basal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in <i>PTCH1</i> gene have been previously described in association with BCC development. In addition, <i>PTCH1</i> mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>An analytical cross-sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin-embedded samples with PTCH1 antibodies. Semi-quantitative analysis was performed to determine the expression level in the immunostained cells.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>We did not find evidence of an association between <i>PTCH1</i> rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (<i>p</i> &gt; 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (<i>p</i> &gt; 0.05).</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>The studied <i>PTCH1</i> variants may not be associated with BCC development in the Western Mexico population. The <i>PTCH1</i> mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.</p>\n </section>\n </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 3","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25010","citationCount":"0","resultStr":"{\"title\":\"PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico\",\"authors\":\"Marianela Zambrano-Román,&nbsp;Jorge R. Padilla-Gutiérrez,&nbsp;Yeminia Valle,&nbsp;José F. Muñoz-Valle,&nbsp;Elizabeth Guevara-Gutiérrez,&nbsp;Diana Emilia Martínez-Fernández,&nbsp;Emmanuel Valdés-Alvarado\",\"doi\":\"10.1002/jcla.25010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>Basal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in <i>PTCH1</i> gene have been previously described in association with BCC development. In addition, <i>PTCH1</i> mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>An analytical cross-sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin-embedded samples with PTCH1 antibodies. Semi-quantitative analysis was performed to determine the expression level in the immunostained cells.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>We did not find evidence of an association between <i>PTCH1</i> rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (<i>p</i> &gt; 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (<i>p</i> &gt; 0.05).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>The studied <i>PTCH1</i> variants may not be associated with BCC development in the Western Mexico population. The <i>PTCH1</i> mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.</p>\\n </section>\\n </div>\",\"PeriodicalId\":15509,\"journal\":{\"name\":\"Journal of Clinical Laboratory Analysis\",\"volume\":\"38 3\",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-01-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25010\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Laboratory Analysis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jcla.25010\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Laboratory Analysis","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jcla.25010","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

背景:基底细胞癌(BCC)约占所有皮肤癌病例的 80%。PTCH1 是调控细胞增殖的音速刺猬信号通路中的一种跨膜蛋白。PTCH1 基因的遗传变异与 BCC 的发展有关。此外,PTCH1 mRNA 和蛋白表达分析对了解其在皮肤癌生理病理中的作用也有重要意义:方法:我们进行了一项横断面分析研究,共纳入 250 名 BCC 患者和 290 名对照组(CG)受试者,他们都出生在墨西哥西部。通过 TaqMan® 检测法确定了 mRNA 的基因型和相对表达量。用 PTCH1 抗体检测了 70 例石蜡包埋 BCC 样本的蛋白质表达。对免疫染色细胞的表达水平进行了半定量分析:结果:我们没有发现 PTCH1 rs357564、rs2297086、rs2236405 和 rs41313327 基因变异与 BCC 易感性之间存在关联的证据。同样,在 BCC 和 CG 的 mRNA 水平表达比较中,也未发现有统计学意义的差异(P > 0.05)。在分析的样本中,有 6 个样本的 PTCH1 蛋白呈低表达,1 个样本呈中度表达。遗传变异、蛋白表达和人口学-临床特征之间没有关联(P > 0.05):结论:所研究的 PTCH1 变异可能与墨西哥西部人群中 BCC 的发展无关。与对照组相比,BCC患者的PTCH1 mRNA水平较低,但其蛋白质在组织样本中表达不足。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

Background

Basal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in PTCH1 gene have been previously described in association with BCC development. In addition, PTCH1 mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.

Methods

An analytical cross-sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin-embedded samples with PTCH1 antibodies. Semi-quantitative analysis was performed to determine the expression level in the immunostained cells.

Results

We did not find evidence of an association between PTCH1 rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (p > 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (p > 0.05).

Conclusion

The studied PTCH1 variants may not be associated with BCC development in the Western Mexico population. The PTCH1 mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Clinical Laboratory Analysis
Journal of Clinical Laboratory Analysis 医学-医学实验技术
CiteScore
5.60
自引率
7.40%
发文量
584
审稿时长
6-12 weeks
期刊介绍: Journal of Clinical Laboratory Analysis publishes original articles on newly developing modes of technology and laboratory assays, with emphasis on their application in current and future clinical laboratory testing. This includes reports from the following fields: immunochemistry and toxicology, hematology and hematopathology, immunopathology, molecular diagnostics, microbiology, genetic testing, immunohematology, and clinical chemistry.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信