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

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dc.contributor.authorAnlas, Ozlem
dc.contributor.authorOzalp, Ozge
dc.contributor.authorCetinkunar, Suleyman
dc.date.accessioned2025-03-20T09:50:46Z
dc.date.available2025-03-20T09:50:46Z
dc.date.issued2024
dc.departmentİzmir Bakırçay Üniversitesi
dc.description.abstractBackground: 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.
dc.identifier.doi10.1159/000541313
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.scopus2-s2.0-85207772508
dc.identifier.scopusqualityQ4
dc.identifier.urihttps://doi.org/10.1159/000541313
dc.identifier.urihttps://hdl.handle.net/20.500.14034/2300
dc.identifier.wosWOS:001335853400001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherKarger
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250319
dc.subjectObesity
dc.subjectGenetic counseling
dc.subjectNovel mutation
dc.subjectGlobal health problem
dc.subjectNext-generation sequencing
dc.titleDistribution 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
dc.typeArticle

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