Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients
Objective: Estrogen receptor 1 (ESR1) polymorphisms are associated with Alzheimer's disease (AD) and polymorphisms in the first intronic region of the gene are known to affect ESR1 mRNA transcription. The first intronic region of the ESR1 contains two polymorphisms that have received the most a...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2023-09-01
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| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-70481 |
| _version_ | 1827798124800770048 |
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| author | Gamze Güven Pınar Köseoğlu Büyükkaya Melisa Kılıç Damla Uzun Betül Cavuş Filiz Güçlü Geyik Ebba Lohmann Bedia Samancı Hakan Gürvit Hasmet Hanağası Başar Bilgiç |
| author_facet | Gamze Güven Pınar Köseoğlu Büyükkaya Melisa Kılıç Damla Uzun Betül Cavuş Filiz Güçlü Geyik Ebba Lohmann Bedia Samancı Hakan Gürvit Hasmet Hanağası Başar Bilgiç |
| author_sort | Gamze Güven |
| collection | DOAJ |
| description | Objective: Estrogen receptor 1 (ESR1) polymorphisms are associated with Alzheimer's disease (AD) and polymorphisms in the first intronic region of the gene are known to affect ESR1 mRNA transcription. The first intronic region of the ESR1 contains two polymorphisms that have received the most attention: PvuII rs2234693 (NM 000125.3: c.453-397T>C) and XbaI rs9340799 (NM 000125.3: c.453-351A>G). Both polymorphisms have been shown to be associated with AD, but consistent findings across populations have not been established. This study aimed to determine whether ESR1 PvuII and XbaI polymorphisms are associated with the disease in a cohort of Turkish AD patients. Whether PvuII and XbaI polymorphisms affect disease susceptibility by influencing ESR1 mRNA expression was also examined. Materials and Methods: Genotyping was performed in 424 patients with AD (mean age: 64.5 +- 11.1 yrs) and 302 controls (mean age: 56.4 +- 13.0 yrs). The polymerase chain reaction (PCR) and restriction enzyme digestion methods were used to determine the prevalence of the ESR1 PvuII and XbaI polymorphisms. The ESR1 mRNA expression was analyzed in the peripheral blood cells of 85 patients and 53 age-matched controls using quantitative real-time PCR. Results: No significant difference in genotype and allele frequencies of ESR1 PvuII and XbaI polymorphisms between the patients and controls was found. However, the frequencies of the PvuII C and XbaI G alleles were significantly higher in the patients with the apolipoprotein-E (APOE) ε4 allele. The ESR1 mRNA levels were significantly lower in the patients with AD compared with the controls (P = 0.001). The XbaI A allele was significantly associated with lower ESR1 mRNA levels (P = 0.044) and this association remained significant even after adjusting for confounders such as age, gender and APOE ε4 carrier status (P = 0.035). Conclusion: This study demonstrated that the distribution of PvuII and XbaI alleles is associated with the APOE ε4 allele. The XbaI polymorphism may be associated with a higher risk of AD by altering ESR1 mRNA levels. |
| first_indexed | 2024-03-11T19:32:27Z |
| format | Article |
| id | doaj.art-1db556c9049b4e69aaa24eb907b11600 |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-03-11T19:32:27Z |
| publishDate | 2023-09-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-1db556c9049b4e69aaa24eb907b116002023-10-06T13:15:51ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452023-09-0129319520310.4274/tnd.2023.70481TJN-70481Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish PatientsGamze Güven0Pınar Köseoğlu Büyükkaya1Melisa Kılıç2Damla Uzun3Betül Cavuş4Filiz Güçlü Geyik5Ebba Lohmann6Bedia Samancı7Hakan Gürvit8Hasmet Hanağası9Başar Bilgiç10Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeIstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeIstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeIstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeIstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeIstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, TürkiyeUniversity of Tübingen, Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Tübingen, Germany;German Center for Neurodegenerative Diseases, Tübingen, GermanyIstanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioural Neurology and Movement Disorders Unit, Istanbul, TürkiyeIstanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioural Neurology and Movement Disorders Unit, Istanbul, TürkiyeIstanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioural Neurology and Movement Disorders Unit, Istanbul, TürkiyeIstanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioural Neurology and Movement Disorders Unit, Istanbul, TürkiyeObjective: Estrogen receptor 1 (ESR1) polymorphisms are associated with Alzheimer's disease (AD) and polymorphisms in the first intronic region of the gene are known to affect ESR1 mRNA transcription. The first intronic region of the ESR1 contains two polymorphisms that have received the most attention: PvuII rs2234693 (NM 000125.3: c.453-397T>C) and XbaI rs9340799 (NM 000125.3: c.453-351A>G). Both polymorphisms have been shown to be associated with AD, but consistent findings across populations have not been established. This study aimed to determine whether ESR1 PvuII and XbaI polymorphisms are associated with the disease in a cohort of Turkish AD patients. Whether PvuII and XbaI polymorphisms affect disease susceptibility by influencing ESR1 mRNA expression was also examined. Materials and Methods: Genotyping was performed in 424 patients with AD (mean age: 64.5 +- 11.1 yrs) and 302 controls (mean age: 56.4 +- 13.0 yrs). The polymerase chain reaction (PCR) and restriction enzyme digestion methods were used to determine the prevalence of the ESR1 PvuII and XbaI polymorphisms. The ESR1 mRNA expression was analyzed in the peripheral blood cells of 85 patients and 53 age-matched controls using quantitative real-time PCR. Results: No significant difference in genotype and allele frequencies of ESR1 PvuII and XbaI polymorphisms between the patients and controls was found. However, the frequencies of the PvuII C and XbaI G alleles were significantly higher in the patients with the apolipoprotein-E (APOE) ε4 allele. The ESR1 mRNA levels were significantly lower in the patients with AD compared with the controls (P = 0.001). The XbaI A allele was significantly associated with lower ESR1 mRNA levels (P = 0.044) and this association remained significant even after adjusting for confounders such as age, gender and APOE ε4 carrier status (P = 0.035). Conclusion: This study demonstrated that the distribution of PvuII and XbaI alleles is associated with the APOE ε4 allele. The XbaI polymorphism may be associated with a higher risk of AD by altering ESR1 mRNA levels.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-70481alzheimer hastalığıöstrojen reseptörü 1pvuiixbaigen polimorfizmimrna ekspresyonu |
| spellingShingle | Gamze Güven Pınar Köseoğlu Büyükkaya Melisa Kılıç Damla Uzun Betül Cavuş Filiz Güçlü Geyik Ebba Lohmann Bedia Samancı Hakan Gürvit Hasmet Hanağası Başar Bilgiç Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients Türk Nöroloji Dergisi alzheimer hastalığı östrojen reseptörü 1 pvuii xbai gen polimorfizmi mrna ekspresyonu |
| title | Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients |
| title_full | Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients |
| title_fullStr | Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients |
| title_full_unstemmed | Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients |
| title_short | Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer's Disease in Turkish Patients |
| title_sort | association of estrogen receptor 1 pvuii and xbai polymorphisms and peripheral estrogen receptor 1 mrna levels with alzheimer s disease in turkish patients |
| topic | alzheimer hastalığı östrojen reseptörü 1 pvuii xbai gen polimorfizmi mrna ekspresyonu |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-70481 |
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