{"title":"在肥胖患者中使用与肥胖相关的基因的下一代测序的变异分布和新变异的鉴定：土耳其的单中心经验。","authors":"Ozlem Anlas, Ozge Ozalp, Suleyman Cetinkunar","doi":"10.1159/000541313","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Obesity has become a common public health problem all over the world today. In recent years, studies on the genetic etiology of obesity have gained importance. As a result of these studies, 127 obesity-related loci have been identified.</p><p><strong>Objectives: </strong>The aim of this work was to screen obesity-related genes and review the literature.</p><p><strong>Methods: </strong>In this retrospective study, 41 obesity-related genes were screened in 116 patients by next-generation sequencing. These genes are <i>DYRK1B</i>, <i>LEP</i>, <i>LEPR</i>, <i>MC4R</i>, <i>NR0B2</i>, <i>POMC</i>, <i>UCP3</i>, <i>ADRB2</i>, <i>ADRB3</i>, <i>AGRP</i>, <i>MC3R</i>, <i>NTRK2</i>, <i>PCSK1</i>, <i>SIM1</i>, <i>CARTPT</i>, <i>ENPP1</i>, <i>PPARG</i>, <i>PPARGC1B, PYY</i>, <i>SDC3</i>, <i>UCP1</i>, <i>ADIPOQ</i>, <i>PBEF (NAMP)</i>, <i>ADN (CFD)</i>, <i>RETN</i>, <i>PGC1 (PPARGC1A)</i>, <i>CCK</i>, <i>NPY</i>, <i>GLUT4 (SLC2A4)</i>, <i>ADD1</i>, <i>SREBP1 (SREBF1)</i>, <i>PTP1B (PTPN1)</i>, <i>IRS-1</i>, <i>GHRL</i>, <i>BDNF</i>, <i>NEGR1, SH2B1</i>, <i>GIPR</i>, <i>TMEM18</i>, <i>FTO</i>, and <i>SLC22A1</i>.</p><p><strong>Results: </strong>Seventy-six of our patients were female, and 40 were male. As a result, 43 variants were detected in 39 (34.4%) patients. Of these, <i>GHRL</i> c.152G>A, <i>MC4R</i> c.496G>A, SH2B1 c.2083G>A, <i>GIPR</i> c.548G>A, <i>ADIPOQ</i> c.268G>A, and <i>BDNF</i> c.5C>T variants have been previously reported in the literature. In addition to the aforementioned variants, there are 37 novel variants that have not been previously reported. Among these, we classified the <i>UCP3</i> c.126 + 1G>T variant as \"Pathogenic\" according to the American College of Medical Genetics and Genomics (ACMG) criteria. Four of 37 novel variants, respectively, <i>ADRB2</i> c.1160_1163delTTGT (p.Phe387Trp*55), <i>MC4R</i> c.895C>T (p.Pro299Ser), <i>POMC</i> c.304C>T (p.Gln102*), and <i>NR0B2</i> c.265C>T (p.Gln89*), were classified as \"Likely Pathogenic.\" A total of 32 novel variants among 37 novel variants were categorized as variants of uncertain significance.</p><p><strong>Conclusions: </strong>Understanding the genetics of obesity is an essential step toward treating and preventing this disease, which has become a global health problem. With this study, we wanted to contribute to the literature by reporting previously reported and novel variants we detected in our patients with obesity.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"208-215"},"PeriodicalIF":0.9000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136547/pdf/","citationCount":"0","resultStr":"{\"title\":\"Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.\",\"authors\":\"Ozlem Anlas, Ozge Ozalp, Suleyman Cetinkunar\",\"doi\":\"10.1159/000541313\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Obesity has become a common public health problem all over the world today. In recent years, studies on the genetic etiology of obesity have gained importance. As a result of these studies, 127 obesity-related loci have been identified.</p><p><strong>Objectives: </strong>The aim of this work was to screen obesity-related genes and review the literature.</p><p><strong>Methods: </strong>In this retrospective study, 41 obesity-related genes were screened in 116 patients by next-generation sequencing. These genes are <i>DYRK1B</i>, <i>LEP</i>, <i>LEPR</i>, <i>MC4R</i>, <i>NR0B2</i>, <i>POMC</i>, <i>UCP3</i>, <i>ADRB2</i>, <i>ADRB3</i>, <i>AGRP</i>, <i>MC3R</i>, <i>NTRK2</i>, <i>PCSK1</i>, <i>SIM1</i>, <i>CARTPT</i>, <i>ENPP1</i>, <i>PPARG</i>, <i>PPARGC1B, PYY</i>, <i>SDC3</i>, <i>UCP1</i>, <i>ADIPOQ</i>, <i>PBEF (NAMP)</i>, <i>ADN (CFD)</i>, <i>RETN</i>, <i>PGC1 (PPARGC1A)</i>, <i>CCK</i>, <i>NPY</i>, <i>GLUT4 (SLC2A4)</i>, <i>ADD1</i>, <i>SREBP1 (SREBF1)</i>, <i>PTP1B (PTPN1)</i>, <i>IRS-1</i>, <i>GHRL</i>, <i>BDNF</i>, <i>NEGR1, SH2B1</i>, <i>GIPR</i>, <i>TMEM18</i>, <i>FTO</i>, and <i>SLC22A1</i>.</p><p><strong>Results: </strong>Seventy-six of our patients were female, and 40 were male. As a result, 43 variants were detected in 39 (34.4%) patients. Of these, <i>GHRL</i> c.152G>A, <i>MC4R</i> c.496G>A, SH2B1 c.2083G>A, <i>GIPR</i> c.548G>A, <i>ADIPOQ</i> c.268G>A, and <i>BDNF</i> c.5C>T variants have been previously reported in the literature. In addition to the aforementioned variants, there are 37 novel variants that have not been previously reported. Among these, we classified the <i>UCP3</i> c.126 + 1G>T variant as \\\"Pathogenic\\\" according to the American College of Medical Genetics and Genomics (ACMG) criteria. Four of 37 novel variants, respectively, <i>ADRB2</i> c.1160_1163delTTGT (p.Phe387Trp*55), <i>MC4R</i> c.895C>T (p.Pro299Ser), <i>POMC</i> c.304C>T (p.Gln102*), and <i>NR0B2</i> c.265C>T (p.Gln89*), were classified as \\\"Likely Pathogenic.\\\" A total of 32 novel variants among 37 novel variants were categorized as variants of uncertain significance.</p><p><strong>Conclusions: </strong>Understanding the genetics of obesity is an essential step toward treating and preventing this disease, which has become a global health problem. With this study, we wanted to contribute to the literature by reporting previously reported and novel variants we detected in our patients with obesity.</p>\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":\"16 3\",\"pages\":\"208-215\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136547/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000541313\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/4 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000541313","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/4 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.
Background: Obesity has become a common public health problem all over the world today. In recent years, studies on the genetic etiology of obesity have gained importance. As a result of these studies, 127 obesity-related loci have been identified.
Objectives: The aim of this work was to screen obesity-related genes and review the literature.
Methods: In this retrospective study, 41 obesity-related genes were screened in 116 patients by next-generation sequencing. These genes are DYRK1B, LEP, LEPR, MC4R, NR0B2, POMC, UCP3, ADRB2, ADRB3, AGRP, MC3R, NTRK2, PCSK1, SIM1, CARTPT, ENPP1, PPARG, PPARGC1B, PYY, SDC3, UCP1, ADIPOQ, PBEF (NAMP), ADN (CFD), RETN, PGC1 (PPARGC1A), CCK, NPY, GLUT4 (SLC2A4), ADD1, SREBP1 (SREBF1), PTP1B (PTPN1), IRS-1, GHRL, BDNF, NEGR1, SH2B1, GIPR, TMEM18, FTO, and SLC22A1.
Results: Seventy-six of our patients were female, and 40 were male. As a result, 43 variants were detected in 39 (34.4%) patients. Of these, GHRL c.152G>A, MC4R c.496G>A, SH2B1 c.2083G>A, GIPR c.548G>A, ADIPOQ c.268G>A, and BDNF c.5C>T variants have been previously reported in the literature. In addition to the aforementioned variants, there are 37 novel variants that have not been previously reported. Among these, we classified the UCP3 c.126 + 1G>T variant as "Pathogenic" according to the American College of Medical Genetics and Genomics (ACMG) criteria. Four of 37 novel variants, respectively, ADRB2 c.1160_1163delTTGT (p.Phe387Trp*55), MC4R c.895C>T (p.Pro299Ser), POMC c.304C>T (p.Gln102*), and NR0B2 c.265C>T (p.Gln89*), were classified as "Likely Pathogenic." A total of 32 novel variants among 37 novel variants were categorized as variants of uncertain significance.
Conclusions: Understanding the genetics of obesity is an essential step toward treating and preventing this disease, which has become a global health problem. With this study, we wanted to contribute to the literature by reporting previously reported and novel variants we detected in our patients with obesity.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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