Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe
(1) Background: Familial hypercholesterolemia (FH) is one of the most prevalent inherited metabolic disorders. The purpose of the study was to investigate the role in cardiovascular disease (CVD) of <i>PAI-1</i>, <i>ACE</i>, <i>ApoB-100</i>, <i>MTHFR A1298C&...
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MDPI AG
2022-03-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/3/429 |
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| author | Alexandra Maștaleru Sabina Alexandra Cojocariu Andra Oancea Maria Magdalena Leon Constantin Mihai Roca Ioana Mădălina Zota Irina Abdulan Cristina Rusu Roxana Popescu Lucian Mihai Antoci Cristian Gabriel Ciobanu Alexandru Dan Costache Elena Cojocaru Florin Mitu |
| author_facet | Alexandra Maștaleru Sabina Alexandra Cojocariu Andra Oancea Maria Magdalena Leon Constantin Mihai Roca Ioana Mădălina Zota Irina Abdulan Cristina Rusu Roxana Popescu Lucian Mihai Antoci Cristian Gabriel Ciobanu Alexandru Dan Costache Elena Cojocaru Florin Mitu |
| author_sort | Alexandra Maștaleru |
| collection | DOAJ |
| description | (1) Background: Familial hypercholesterolemia (FH) is one of the most prevalent inherited metabolic disorders. The purpose of the study was to investigate the role in cardiovascular disease (CVD) of <i>PAI-1</i>, <i>ACE</i>, <i>ApoB-100</i>, <i>MTHFR A1298C</i>, and <i>C677T</i>. (2) Methods: From a group of 1499 patients, we included 52 patients diagnosed with FH phenotype and 17 patients in a control group. (3) Results: Most of the FH patients had multiple comorbidities compared to the control group, such as atherosclerosis (48.1% vs. 17.6%), atherosclerotic cardiovascular disease (ASCVD 32.7% vs. 11.8%), and metabolic syndrome (MetS, 40.4% vs. 11.8%). In total, 66.7% of the FH patients had <i>PAI-1 4G/5G</i> genotype and MetS. Between <i>4G/5G</i> and <i>4G/4G</i>, a statistically significant difference was observed (<i>p</i> = 0.013). FH patients with <i>ApoB R3500Q</i> polymorphism were correlated with ASCVD (<i>p</i> = 0.031). Both <i>MTHFR C677T</i> and <i>A1298C</i> polymorphisms had a significant correlation with gender, alcohol consumption, and smoking status. <i>ACE</i> polymorphism was associated with ATS in FH patients, statistically significant differences being observed between heterozygous and homozygous D genotype (<i>p</i> = 0.036) as well as between heterozygous and homozygous I genotype (<i>p</i> = 0.021). (4) Conclusions: A link between these polymorphisms was demonstrated in the FH group for ATS, ASCVD, and MetS. |
| first_indexed | 2024-03-09T13:39:36Z |
| format | Article |
| id | doaj.art-aa1e95f7944241ef97e6491755de37e6 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T13:39:36Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-aa1e95f7944241ef97e6491755de37e62023-11-30T21:08:21ZengMDPI AGJournal of Personalized Medicine2075-44262022-03-0112342910.3390/jpm12030429Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern EuropeAlexandra Maștaleru0Sabina Alexandra Cojocariu1Andra Oancea2Maria Magdalena Leon Constantin3Mihai Roca4Ioana Mădălina Zota5Irina Abdulan6Cristina Rusu7Roxana Popescu8Lucian Mihai Antoci9Cristian Gabriel Ciobanu10Alexandru Dan Costache11Elena Cojocaru12Florin Mitu13Department of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Morphofunctional Sciences I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Medical Specialties I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania(1) Background: Familial hypercholesterolemia (FH) is one of the most prevalent inherited metabolic disorders. The purpose of the study was to investigate the role in cardiovascular disease (CVD) of <i>PAI-1</i>, <i>ACE</i>, <i>ApoB-100</i>, <i>MTHFR A1298C</i>, and <i>C677T</i>. (2) Methods: From a group of 1499 patients, we included 52 patients diagnosed with FH phenotype and 17 patients in a control group. (3) Results: Most of the FH patients had multiple comorbidities compared to the control group, such as atherosclerosis (48.1% vs. 17.6%), atherosclerotic cardiovascular disease (ASCVD 32.7% vs. 11.8%), and metabolic syndrome (MetS, 40.4% vs. 11.8%). In total, 66.7% of the FH patients had <i>PAI-1 4G/5G</i> genotype and MetS. Between <i>4G/5G</i> and <i>4G/4G</i>, a statistically significant difference was observed (<i>p</i> = 0.013). FH patients with <i>ApoB R3500Q</i> polymorphism were correlated with ASCVD (<i>p</i> = 0.031). Both <i>MTHFR C677T</i> and <i>A1298C</i> polymorphisms had a significant correlation with gender, alcohol consumption, and smoking status. <i>ACE</i> polymorphism was associated with ATS in FH patients, statistically significant differences being observed between heterozygous and homozygous D genotype (<i>p</i> = 0.036) as well as between heterozygous and homozygous I genotype (<i>p</i> = 0.021). (4) Conclusions: A link between these polymorphisms was demonstrated in the FH group for ATS, ASCVD, and MetS.https://www.mdpi.com/2075-4426/12/3/429atherosclerosismetabolic syndromeApoB R3500QMTHFR C677TMTHFR A1298CACE |
| spellingShingle | Alexandra Maștaleru Sabina Alexandra Cojocariu Andra Oancea Maria Magdalena Leon Constantin Mihai Roca Ioana Mădălina Zota Irina Abdulan Cristina Rusu Roxana Popescu Lucian Mihai Antoci Cristian Gabriel Ciobanu Alexandru Dan Costache Elena Cojocaru Florin Mitu Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe Journal of Personalized Medicine atherosclerosis metabolic syndrome ApoB R3500Q MTHFR C677T MTHFR A1298C ACE |
| title | Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe |
| title_full | Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe |
| title_fullStr | Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe |
| title_full_unstemmed | Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe |
| title_short | Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe |
| title_sort | genetic polymorphisms in a familial hypercholesterolemia population from north eastern europe |
| topic | atherosclerosis metabolic syndrome ApoB R3500Q MTHFR C677T MTHFR A1298C ACE |
| url | https://www.mdpi.com/2075-4426/12/3/429 |
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