Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach
Background: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is <i>SERPINE1</i> whose the role in the risk of developing DN remains questionable. In order to elucidate the contribution of <i>SERPINE1...
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MDPI AG
2021-11-01
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| author | Maria Tziastoudi Efthimios Dardiotis Georgios Pissas Georgios Filippidis Spyridon Golfinopoulos Vasileios Siokas Sophia V. Tachmitzi Theodoros Eleftheriadis Georgios M. Hadjigeorgiou Evangelia Tsironi Ioannis Stefanidis |
| author_facet | Maria Tziastoudi Efthimios Dardiotis Georgios Pissas Georgios Filippidis Spyridon Golfinopoulos Vasileios Siokas Sophia V. Tachmitzi Theodoros Eleftheriadis Georgios M. Hadjigeorgiou Evangelia Tsironi Ioannis Stefanidis |
| author_sort | Maria Tziastoudi |
| collection | DOAJ |
| description | Background: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is <i>SERPINE1</i> whose the role in the risk of developing DN remains questionable. In order to elucidate the contribution of <i>SERPINE1</i> in DN progression in the context of type 2 diabetes mellitus (T2DM), we conducted an association study and meta-analysis of <i>SERPINE1</i> genetic variants. Materials and Methods: A total of 190 patients with DN, 150 T2DM (type 2 diabetes mellitus) patients without DN and 238 healthy controls were recruited. We selected five tag single-nucleotide polymorphisms (SNPs) from the HapMap. The generalized odds ratio (OR<sub>G</sub>) was calculated to estimate the risk on DN development. Subgroup analyses based on ethnicity and type of diabetes were also performed. Results: Both the present association study regarding <i>SERPINE1</i> SNPs (rs2227667, rs2070682, rs1050813, rs2227690, rs2227692) did not found any significant association between <i>SERPINE1</i> variants and DN and the meta-analysis of variant 4G>5G (rs1799889) did not also reveal a significant association between 4G>5G variant and DN in main and subgroup analyses. Discussion: In conclusion, the present association study and meta-analysis provides strong evidence that <i>SERPINE1</i> genetic variant 4G>5G is not implicated in the risk or development of DN in Caucasians. Further studies in other populations remain to further investigate the role of this variant in the course of DN. |
| first_indexed | 2024-03-10T04:02:22Z |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T04:02:22Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
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| series | Genes |
| spelling | doaj.art-5cf1d8964c094a64b7b3e47af795bcd82023-11-23T08:29:54ZengMDPI AGGenes2073-44252021-11-011212188710.3390/genes12121887Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free ApproachMaria Tziastoudi0Efthimios Dardiotis1Georgios Pissas2Georgios Filippidis3Spyridon Golfinopoulos4Vasileios Siokas5Sophia V. Tachmitzi6Theodoros Eleftheriadis7Georgios M. Hadjigeorgiou8Evangelia Tsironi9Ioannis Stefanidis10Department of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceLaboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, 41110 Larissa, GreeceDepartment of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceDepartment of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceDepartment of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceLaboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, 41110 Larissa, GreeceDepartment of Ophthalmology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceDepartment of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceLaboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, 41110 Larissa, GreeceDepartment of Ophthalmology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceDepartment of Nephrology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceBackground: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is <i>SERPINE1</i> whose the role in the risk of developing DN remains questionable. In order to elucidate the contribution of <i>SERPINE1</i> in DN progression in the context of type 2 diabetes mellitus (T2DM), we conducted an association study and meta-analysis of <i>SERPINE1</i> genetic variants. Materials and Methods: A total of 190 patients with DN, 150 T2DM (type 2 diabetes mellitus) patients without DN and 238 healthy controls were recruited. We selected five tag single-nucleotide polymorphisms (SNPs) from the HapMap. The generalized odds ratio (OR<sub>G</sub>) was calculated to estimate the risk on DN development. Subgroup analyses based on ethnicity and type of diabetes were also performed. Results: Both the present association study regarding <i>SERPINE1</i> SNPs (rs2227667, rs2070682, rs1050813, rs2227690, rs2227692) did not found any significant association between <i>SERPINE1</i> variants and DN and the meta-analysis of variant 4G>5G (rs1799889) did not also reveal a significant association between 4G>5G variant and DN in main and subgroup analyses. Discussion: In conclusion, the present association study and meta-analysis provides strong evidence that <i>SERPINE1</i> genetic variant 4G>5G is not implicated in the risk or development of DN in Caucasians. Further studies in other populations remain to further investigate the role of this variant in the course of DN.https://www.mdpi.com/2073-4425/12/12/1887<i>SERPINE1</i>diabetic nephropathygene polymorphismsystematic reviewmeta-analysis |
| spellingShingle | Maria Tziastoudi Efthimios Dardiotis Georgios Pissas Georgios Filippidis Spyridon Golfinopoulos Vasileios Siokas Sophia V. Tachmitzi Theodoros Eleftheriadis Georgios M. Hadjigeorgiou Evangelia Tsironi Ioannis Stefanidis Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach Genes <i>SERPINE1</i> diabetic nephropathy gene polymorphism systematic review meta-analysis |
| title | Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach |
| title_full | Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach |
| title_fullStr | Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach |
| title_full_unstemmed | Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach |
| title_short | Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach |
| title_sort | serpin family e member 1 tag single nucleotide polymorphisms in patients with diabetic nephropathy an association study and meta analysis using a genetic model free approach |
| topic | <i>SERPINE1</i> diabetic nephropathy gene polymorphism systematic review meta-analysis |
| url | https://www.mdpi.com/2073-4425/12/12/1887 |
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