Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are au...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2016-04-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/1088 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850236630410985472 |
|---|---|
| author | Hikmet Gülşah Tanyıldız Şule Yeşil Ceyhun Bozkurt Mehmet Onur Çandır Sibel Akpınar-Tekgündüz Şule Toprak Deniz Yüksel Gürses Şahin |
| author_facet | Hikmet Gülşah Tanyıldız Şule Yeşil Ceyhun Bozkurt Mehmet Onur Çandır Sibel Akpınar-Tekgündüz Şule Toprak Deniz Yüksel Gürses Şahin |
| author_sort | Hikmet Gülşah Tanyıldız |
| collection | DOAJ |
| description |
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal. We therefore aimed to investigate the possible relationship between the MTHFR gene polymorphism and accompanying tumors such as neurofibroma, hamartoma, and optic glioma in children with NF1 found to have the MTHFR 677 and MTHFR 1298 gene polymorphism in this study. We included 55 pediatric patients diagnosed with NF1 between 2005 and 2014 in the study group. The control group included 44 healthy subjects without acute or chronic disease findings. A significant relationship was found between the MTHFR A1298C polymorphism and the incidence of optic glioma (p=0.014) (AA vs. AC: OR 11, 95% CI 1.27-95.17; AA vs. CC: OR 7.33, 95% CI 0.35-150.70). We also found a significant relationship between the MTHFR C1298C polymorphism and the incidence of hamartoma (p=0.019) (AA vs. AC: OR 2.12, 95% CI 0.662-6.809; p=0.203). Epilepsy incidence was high in subjects with MTHFR C677C. The MTHFR A1298C, C1298C, and C677C gene polymorphisms can be associated with a higher optic glioma, hamartoma, and epilepsy incidence, respectively, in patients diagnosed with neurofibromatosis type 1.
|
| format | Article |
| id | doaj-art-e95f7ce9aaee439eba63f0c5e497adc4 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2016-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e95f7ce9aaee439eba63f0c5e497adc42025-08-20T02:01:55ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212016-04-0158210.24953/turkjped.2016.02.005Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?Hikmet Gülşah Tanyıldız0Şule Yeşil1Ceyhun Bozkurt2Mehmet Onur Çandır3Sibel Akpınar-Tekgündüz4Şule Toprak5Deniz Yüksel6Gürses Şahin7Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Neurology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.Division of Pediatric Hematology Oncology, Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey. The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal. We therefore aimed to investigate the possible relationship between the MTHFR gene polymorphism and accompanying tumors such as neurofibroma, hamartoma, and optic glioma in children with NF1 found to have the MTHFR 677 and MTHFR 1298 gene polymorphism in this study. We included 55 pediatric patients diagnosed with NF1 between 2005 and 2014 in the study group. The control group included 44 healthy subjects without acute or chronic disease findings. A significant relationship was found between the MTHFR A1298C polymorphism and the incidence of optic glioma (p=0.014) (AA vs. AC: OR 11, 95% CI 1.27-95.17; AA vs. CC: OR 7.33, 95% CI 0.35-150.70). We also found a significant relationship between the MTHFR C1298C polymorphism and the incidence of hamartoma (p=0.019) (AA vs. AC: OR 2.12, 95% CI 0.662-6.809; p=0.203). Epilepsy incidence was high in subjects with MTHFR C677C. The MTHFR A1298C, C1298C, and C677C gene polymorphisms can be associated with a higher optic glioma, hamartoma, and epilepsy incidence, respectively, in patients diagnosed with neurofibromatosis type 1. https://turkjpediatr.org/article/view/1088MTHFR gene polymorphismneurofibromatosis type 1 |
| spellingShingle | Hikmet Gülşah Tanyıldız Şule Yeşil Ceyhun Bozkurt Mehmet Onur Çandır Sibel Akpınar-Tekgündüz Şule Toprak Deniz Yüksel Gürses Şahin Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? The Turkish Journal of Pediatrics MTHFR gene polymorphism neurofibromatosis type 1 |
| title | Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? |
| title_full | Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? |
| title_fullStr | Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? |
| title_full_unstemmed | Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? |
| title_short | Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? |
| title_sort | are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients |
| topic | MTHFR gene polymorphism neurofibromatosis type 1 |
| url | https://turkjpediatr.org/article/view/1088 |
| work_keys_str_mv | AT hikmetgulsahtanyıldız arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT suleyesil arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT ceyhunbozkurt arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT mehmetonurcandır arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT sibelakpınartekgunduz arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT suletoprak arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT denizyuksel arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients AT gursessahin arethemethylenetetrahydrofolatereductase1298and677genepolymorphismsrelatedtoopticgliomaandhamartomariskinneurofibromatosistype1patients |