NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study
The number of people suffering from metabolic syndrome (MetS) including type 2 diabetes (T2DM), hypertension, and obesity increased over 10 times through the last 30 years and it is a severe public health concern worldwide. Uncoupling protein 1 (UCP1) is a mitochondrial carrier protein found only in...
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MDPI AG
2023-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/4/789 |
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| author | Anna Andrzejczak Agata Witkowicz Dorota Kujawa Damian Skrypnik Monika Szulińska Paweł Bogdański Łukasz Łaczmański Lidia Karabon |
| author_facet | Anna Andrzejczak Agata Witkowicz Dorota Kujawa Damian Skrypnik Monika Szulińska Paweł Bogdański Łukasz Łaczmański Lidia Karabon |
| author_sort | Anna Andrzejczak |
| collection | DOAJ |
| description | The number of people suffering from metabolic syndrome (MetS) including type 2 diabetes (T2DM), hypertension, and obesity increased over 10 times through the last 30 years and it is a severe public health concern worldwide. Uncoupling protein 1 (UCP1) is a mitochondrial carrier protein found only in brown adipose tissue involved in thermogenesis and energy expenditure. Several studies showed an association between <i>UCP1</i> variants and the susceptibility to MetS, T2DM, and/or obesity in various populations; all these studies were, however, limited to a few selected polymorphisms. The present study aimed to search within the entire <i>UCP1</i> gene for new variants potentially associated with MetS and/or T2DM risk. We performed NGS sequencing of the entire <i>UCP1</i> gene in 59 MetS patients including 29 T2DM patients, and 36 controls using the MiSeq platform. An analysis of allele and genotype distribution revealed nine variations which seem to be interesting in the context of MetS and fifteen in the context of T2DM. Altogether, we identified 12 new variants, among which only rs3811787 was investigated previously by others. Thereby, NGS sequencing revealed new intriguing <i>UCP1</i> gene variants potentially associated with MetS and/or T2DM risk in the Polish population. |
| first_indexed | 2024-03-11T05:00:33Z |
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| id | doaj.art-d7f7902562084c9d9aaf99b851e06a18 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T05:00:33Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-d7f7902562084c9d9aaf99b851e06a182023-11-17T19:22:27ZengMDPI AGGenes2073-44252023-03-0114478910.3390/genes14040789NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary StudyAnna Andrzejczak0Agata Witkowicz1Dorota Kujawa2Damian Skrypnik3Monika Szulińska4Paweł Bogdański5Łukasz Łaczmański6Lidia Karabon7Laboratory of Genetics and Epigenetics of Human Diseases, Department of Experimental Therapy, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, PolandLaboratory of Genetics and Epigenetics of Human Diseases, Department of Experimental Therapy, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, PolandLaboratory of Genomics and Bioinformatics, Department of Immunology of Infectious Diseases, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, PolandDepartment of Treatment of Obesity, Metabolic Disorders and Clinical Dietetics, Poznan University of Medical Sciences, 60-569 Poznan, PolandDepartment of Treatment of Obesity, Metabolic Disorders and Clinical Dietetics, Poznan University of Medical Sciences, 60-569 Poznan, PolandDepartment of Treatment of Obesity, Metabolic Disorders and Clinical Dietetics, Poznan University of Medical Sciences, 60-569 Poznan, PolandLaboratory of Genomics and Bioinformatics, Department of Immunology of Infectious Diseases, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, PolandLaboratory of Genetics and Epigenetics of Human Diseases, Department of Experimental Therapy, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, PolandThe number of people suffering from metabolic syndrome (MetS) including type 2 diabetes (T2DM), hypertension, and obesity increased over 10 times through the last 30 years and it is a severe public health concern worldwide. Uncoupling protein 1 (UCP1) is a mitochondrial carrier protein found only in brown adipose tissue involved in thermogenesis and energy expenditure. Several studies showed an association between <i>UCP1</i> variants and the susceptibility to MetS, T2DM, and/or obesity in various populations; all these studies were, however, limited to a few selected polymorphisms. The present study aimed to search within the entire <i>UCP1</i> gene for new variants potentially associated with MetS and/or T2DM risk. We performed NGS sequencing of the entire <i>UCP1</i> gene in 59 MetS patients including 29 T2DM patients, and 36 controls using the MiSeq platform. An analysis of allele and genotype distribution revealed nine variations which seem to be interesting in the context of MetS and fifteen in the context of T2DM. Altogether, we identified 12 new variants, among which only rs3811787 was investigated previously by others. Thereby, NGS sequencing revealed new intriguing <i>UCP1</i> gene variants potentially associated with MetS and/or T2DM risk in the Polish population.https://www.mdpi.com/2073-4425/14/4/789UCP1thermogenin 1NGSpolymorphismSNVMetS |
| spellingShingle | Anna Andrzejczak Agata Witkowicz Dorota Kujawa Damian Skrypnik Monika Szulińska Paweł Bogdański Łukasz Łaczmański Lidia Karabon NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study Genes UCP1 thermogenin 1 NGS polymorphism SNV MetS |
| title | NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study |
| title_full | NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study |
| title_fullStr | NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study |
| title_full_unstemmed | NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study |
| title_short | NGS Sequencing Reveals New <i>UCP1</i> Gene Variants Potentially Associated with MetS and/or T2DM Risk in the Polish Population—A Preliminary Study |
| title_sort | ngs sequencing reveals new i ucp1 i gene variants potentially associated with mets and or t2dm risk in the polish population a preliminary study |
| topic | UCP1 thermogenin 1 NGS polymorphism SNV MetS |
| url | https://www.mdpi.com/2073-4425/14/4/789 |
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