{"title":"人类端粒酶逆转录酶(hTERT)MNS16A多态性与乳腺癌风险之间的关系。","authors":"Seyede Mehrana Salehi-Reyhani, Mostafa Saadat","doi":"10.1007/s11033-024-09999-0","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>It is well known that telomerase activity is suppressed in normal human tissues and reactivated in tumors, suggesting that the human telomerase reverse transcriptase (hTERT, MIM: 187270) gene may be involved in carcinogenesis. A polymorphic tandem repeat minisatellite located downstream of exon 16 of hTERT and upstream in the putative promoter region of an antisense hTERT transcript, termed MNS16A, results in a functional polymorphism. Because the association between the MNS16A genetic polymorphism and breast cancer (BC) risk remains an open question, the present case-control study was conducted in Shiraz (Fars Province, Southern Iran).</p><p><strong>Methods: </strong>A total of 711 samples were collected, including 362 BC patients and 349 healthy individuals. Genotyping was performed by polymerase chain reaction method. Alleles were determined by classifying DNA amplicons of less than and greater than 300 bp as short (S) and long (L) alleles, respectively.</p><p><strong>Results: </strong>Different inheritance models (codominant, dominant, recessive, overdominant genotype models and the allele model) were used to evaluate the association between the MNS16A polymorphism and the risk of BC. No significant association was observed in any of the analyses. It should be noted that the statistical power of the comparisons was low.</p><p><strong>Conclusion: </strong>The present study did not support the association between hTERT MNS16A polymorphism and breast cancer risk. Similar studies in other populations with larger sample sizes are needed to determine the association between the hTERT MNS16A polymorphism and susceptibility to breast cancer.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association between human telomerase reverse transcriptase (hTERT) MNS16A polymorphism and risk of breast cancer.\",\"authors\":\"Seyede Mehrana Salehi-Reyhani, Mostafa Saadat\",\"doi\":\"10.1007/s11033-024-09999-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>It is well known that telomerase activity is suppressed in normal human tissues and reactivated in tumors, suggesting that the human telomerase reverse transcriptase (hTERT, MIM: 187270) gene may be involved in carcinogenesis. A polymorphic tandem repeat minisatellite located downstream of exon 16 of hTERT and upstream in the putative promoter region of an antisense hTERT transcript, termed MNS16A, results in a functional polymorphism. Because the association between the MNS16A genetic polymorphism and breast cancer (BC) risk remains an open question, the present case-control study was conducted in Shiraz (Fars Province, Southern Iran).</p><p><strong>Methods: </strong>A total of 711 samples were collected, including 362 BC patients and 349 healthy individuals. Genotyping was performed by polymerase chain reaction method. Alleles were determined by classifying DNA amplicons of less than and greater than 300 bp as short (S) and long (L) alleles, respectively.</p><p><strong>Results: </strong>Different inheritance models (codominant, dominant, recessive, overdominant genotype models and the allele model) were used to evaluate the association between the MNS16A polymorphism and the risk of BC. No significant association was observed in any of the analyses. It should be noted that the statistical power of the comparisons was low.</p><p><strong>Conclusion: </strong>The present study did not support the association between hTERT MNS16A polymorphism and breast cancer risk. Similar studies in other populations with larger sample sizes are needed to determine the association between the hTERT MNS16A polymorphism and susceptibility to breast cancer.</p>\",\"PeriodicalId\":18755,\"journal\":{\"name\":\"Molecular Biology Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-10-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Biology Reports\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s11033-024-09999-0\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Biology Reports","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s11033-024-09999-0","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景:众所周知,端粒酶活性在正常人体组织中受到抑制,而在肿瘤中被重新激活,这表明人类端粒酶逆转录酶(hTERT,MIM: 187270)基因可能与致癌有关。位于 hTERT 第 16 号外显子下游和反义 hTERT 转录本推测启动子区上游的多态串联重复小卫星(称为 MNS16A)导致了一种功能性多态性。由于 MNS16A 基因多态性与乳腺癌(BC)风险之间的关系仍是一个未决问题,因此本病例对照研究在设拉子(伊朗南部法尔斯省)进行:方法:共收集了 711 份样本,包括 362 名 BC 患者和 349 名健康人。采用聚合酶链反应法进行基因分型。通过将小于和大于 300 bp 的 DNA 扩增子分别划分为短等位基因(S)和长等位基因(L)来确定等位基因:结果:采用了不同的遗传模型(共显性、显性、隐性、过显性基因型模型和等位基因模型)来评估 MNS16A 多态性与 BC 风险之间的关联。在所有分析中均未观察到明显的关联。值得注意的是,比较的统计能力较低:本研究不支持 hTERT MNS16A 多态性与乳腺癌风险之间的关联。要确定 hTERT MNS16A 多态性与乳腺癌易感性之间的关系,还需要在其他人群中进行样本量更大的类似研究。
Association between human telomerase reverse transcriptase (hTERT) MNS16A polymorphism and risk of breast cancer.
Background: It is well known that telomerase activity is suppressed in normal human tissues and reactivated in tumors, suggesting that the human telomerase reverse transcriptase (hTERT, MIM: 187270) gene may be involved in carcinogenesis. A polymorphic tandem repeat minisatellite located downstream of exon 16 of hTERT and upstream in the putative promoter region of an antisense hTERT transcript, termed MNS16A, results in a functional polymorphism. Because the association between the MNS16A genetic polymorphism and breast cancer (BC) risk remains an open question, the present case-control study was conducted in Shiraz (Fars Province, Southern Iran).
Methods: A total of 711 samples were collected, including 362 BC patients and 349 healthy individuals. Genotyping was performed by polymerase chain reaction method. Alleles were determined by classifying DNA amplicons of less than and greater than 300 bp as short (S) and long (L) alleles, respectively.
Results: Different inheritance models (codominant, dominant, recessive, overdominant genotype models and the allele model) were used to evaluate the association between the MNS16A polymorphism and the risk of BC. No significant association was observed in any of the analyses. It should be noted that the statistical power of the comparisons was low.
Conclusion: The present study did not support the association between hTERT MNS16A polymorphism and breast cancer risk. Similar studies in other populations with larger sample sizes are needed to determine the association between the hTERT MNS16A polymorphism and susceptibility to breast cancer.
期刊介绍:
Molecular Biology Reports publishes original research papers and review articles that demonstrate novel molecular and cellular findings in both eukaryotes (animals, plants, algae, funghi) and prokaryotes (bacteria and archaea).The journal publishes results of both fundamental and translational research as well as new techniques that advance experimental progress in the field and presents original research papers, short communications and (mini-) reviews.