Olga Irtyuga, Rostislav Skitchenko, Mary Babakekhyan, Dmitrii Usoltsev, Svetlana Tarnovskaya, Anna Malashicheva, Yulya Fomicheva, Oksana Rotar, Olga Moiseeva, Ulyana Shadrina, Mykyta Artomov, Anna Kostareva, Evgeny Shlyakhto
{"title":"NOTCH 通路基因在主动脉狭窄遗传易感性中的作用。","authors":"Olga Irtyuga, Rostislav Skitchenko, Mary Babakekhyan, Dmitrii Usoltsev, Svetlana Tarnovskaya, Anna Malashicheva, Yulya Fomicheva, Oksana Rotar, Olga Moiseeva, Ulyana Shadrina, Mykyta Artomov, Anna Kostareva, Evgeny Shlyakhto","doi":"10.3390/jcdd11070226","DOIUrl":null,"url":null,"abstract":"<p><p>The NOTCH-signaling pathway is responsible for intercellular interactions and cell fate commitment. Recently, NOTCH pathway genes were demonstrated to play an important role in aortic valve development, leading to an increased calcified aortic valve disease (CAVD) later in life. Here, we further investigate the association between genetic variants in the NOTCH pathway genes and aortic stenosis in a case-control study of 90 CAVD cases and 4723 controls using target panel sequencing of full-length 20 genes from a NOTCH-related pathway (<i>DVL2</i>, <i>DTX2</i>, <i>MFNG</i>, <i>NUMBL</i>, <i>LFNG</i>, <i>DVL1</i>, <i>DTX4</i>, <i>APH1A</i>, <i>DTX1</i>, <i>APH1B</i>, <i>NOTCH1</i>, <i>ADAM17</i>, <i>DVL3</i>, <i>NCSTN</i>, <i>DTX3L</i>, <i>ILK</i>, <i>RFNG</i>, <i>DTX3</i>, <i>NOTCH4</i>, <i>PSENEN</i>). We identified a common intronic variant in <i>NOTCH1</i>, protecting against CAVD development (rs3812603), as well as several rare and unique new variants in NOTCH-pathway genes (<i>DTX4</i>, <i>NOTCH1</i>, <i>DTX1</i>, <i>DVL2</i>, <i>NOTCH1</i>, <i>DTX3L</i>, <i>DVL3</i>), with a prominent effect of the protein structure and function.</p>","PeriodicalId":2,"journal":{"name":"ACS Applied Bio Materials","volume":null,"pages":null},"PeriodicalIF":4.6000,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11277067/pdf/","citationCount":"0","resultStr":"{\"title\":\"The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis.\",\"authors\":\"Olga Irtyuga, Rostislav Skitchenko, Mary Babakekhyan, Dmitrii Usoltsev, Svetlana Tarnovskaya, Anna Malashicheva, Yulya Fomicheva, Oksana Rotar, Olga Moiseeva, Ulyana Shadrina, Mykyta Artomov, Anna Kostareva, Evgeny Shlyakhto\",\"doi\":\"10.3390/jcdd11070226\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The NOTCH-signaling pathway is responsible for intercellular interactions and cell fate commitment. Recently, NOTCH pathway genes were demonstrated to play an important role in aortic valve development, leading to an increased calcified aortic valve disease (CAVD) later in life. Here, we further investigate the association between genetic variants in the NOTCH pathway genes and aortic stenosis in a case-control study of 90 CAVD cases and 4723 controls using target panel sequencing of full-length 20 genes from a NOTCH-related pathway (<i>DVL2</i>, <i>DTX2</i>, <i>MFNG</i>, <i>NUMBL</i>, <i>LFNG</i>, <i>DVL1</i>, <i>DTX4</i>, <i>APH1A</i>, <i>DTX1</i>, <i>APH1B</i>, <i>NOTCH1</i>, <i>ADAM17</i>, <i>DVL3</i>, <i>NCSTN</i>, <i>DTX3L</i>, <i>ILK</i>, <i>RFNG</i>, <i>DTX3</i>, <i>NOTCH4</i>, <i>PSENEN</i>). We identified a common intronic variant in <i>NOTCH1</i>, protecting against CAVD development (rs3812603), as well as several rare and unique new variants in NOTCH-pathway genes (<i>DTX4</i>, <i>NOTCH1</i>, <i>DTX1</i>, <i>DVL2</i>, <i>NOTCH1</i>, <i>DTX3L</i>, <i>DVL3</i>), with a prominent effect of the protein structure and function.</p>\",\"PeriodicalId\":2,\"journal\":{\"name\":\"ACS Applied Bio Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2024-07-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11277067/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Bio Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3390/jcdd11070226\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MATERIALS SCIENCE, BIOMATERIALS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Bio Materials","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/jcdd11070226","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MATERIALS SCIENCE, BIOMATERIALS","Score":null,"Total":0}
The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis.
The NOTCH-signaling pathway is responsible for intercellular interactions and cell fate commitment. Recently, NOTCH pathway genes were demonstrated to play an important role in aortic valve development, leading to an increased calcified aortic valve disease (CAVD) later in life. Here, we further investigate the association between genetic variants in the NOTCH pathway genes and aortic stenosis in a case-control study of 90 CAVD cases and 4723 controls using target panel sequencing of full-length 20 genes from a NOTCH-related pathway (DVL2, DTX2, MFNG, NUMBL, LFNG, DVL1, DTX4, APH1A, DTX1, APH1B, NOTCH1, ADAM17, DVL3, NCSTN, DTX3L, ILK, RFNG, DTX3, NOTCH4, PSENEN). We identified a common intronic variant in NOTCH1, protecting against CAVD development (rs3812603), as well as several rare and unique new variants in NOTCH-pathway genes (DTX4, NOTCH1, DTX1, DVL2, NOTCH1, DTX3L, DVL3), with a prominent effect of the protein structure and function.
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