دورية أكاديمية
Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures.
| العنوان: | Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures. |
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| المؤلفون: | Hung KL; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan, ROC; Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan, ROC., Liang JS; Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City, Taiwan, ROC., Wang JS; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan, ROC., Chen HJ; Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan, ROC; Department of Pediatric Neurology, MacKay Children's Hospital, Taipei, Taiwan, ROC., Lin LJ; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan, ROC., Lu JF; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan, ROC. Electronic address: jflu9421@gmail.com. |
| المصدر: | Epilepsy research [Epilepsy Res] 2017 Jan; Vol. 129, pp. 1-7. Date of Electronic Publication: 2016 Nov 14. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier Science Publishers, c1987- |
| مواضيع طبية MeSH: | Genetic Predisposition to Disease* , Polymorphism, Single Nucleotide* , Protein Isoforms*, Cyclooxygenase 2/*genetics , Receptors, GABA-A/*genetics , Seizures, Febrile/*genetics, Asian People ; Case-Control Studies ; Female ; Genes, Recessive ; Genetic Association Studies ; Humans ; Infant ; Interleukin 1 Receptor Antagonist Protein/genetics ; Interleukin-10/genetics ; Linkage Disequilibrium ; Male ; Models, Genetic ; Taiwan |
| مستخلص: | Febrile seizure (FS) is the most common type of convulsion in infants and young children. The occurrence of FS in a subset of children with febrile illness suggested genetic factors may have an important effect on the predisposition of the disease. Using targeted next generation sequencing (NGS), a novel splicing variation (NM_198903.2:c.1249-1G>T) was identified in the γ-aminobutyric acid type A (GABA-A) receptor γ2 subunit (GABRG2) gene of a FS patient. To investigate possible association of FS with single nucleotide polymorphisms (SNPs) in prostaglandin-endoperoxide synthase-2 (prostaglandin G/H synthase-2; PTGS2/cyclooxygenase-2; COX2) gene involving in thermoregulatory pathway, eight SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308, along with 2 previously reported variations in IL1RN (86-bp VNTR) and IL10 (rs1900872) were genotyped and utilized for case-control association studies on 35 FS and 31 non-FS controls. A single SNP (rs689466) localized at 5'-1192 of the PTGS2 gene exhibited significant association with FS (p=0.045) based on case-control allelic association analyses. A significant decrease in the frequency of the G allele in FS (0.357) was observed compared to that in controls (0.536) with an estimated odds ratio (OR) of 0.48 (95% CI, 0.23-0.99) for the G versus A allele. Using case-control genotypic association analysis, the -1192 A allele is most likely to confer susceptibility to FS by a recessive action model (p=0.045, pointwise empirical p value (EMP1)=0.049). The association of SNPs in PTGS2, in addition to IL6, IL-6 receptor (IL6R) and prostaglandin E receptor 3 (PTGER3) in prior reports, with FS suggests their possible action in concert to modulate phenotypes in FS as well as the involvement of thermoregulatory pathway in pathogenesis of FS. (Copyright © 2016 Elsevier B.V. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Association study; Febrile seizure; GABRG2; PTGS2/COX-2; Single nucleotide polymorphism (SNP); Targeted next generation DNA sequencing |
| المشرفين على المادة: | 0 (GABRG2 protein, human) 0 (IL10 protein, human) 0 (IL1RN protein, human) 0 (Interleukin 1 Receptor Antagonist Protein) 0 (Protein Isoforms) 0 (Receptors, GABA-A) 130068-27-8 (Interleukin-10) EC 1.14.99.1 (Cyclooxygenase 2) EC 1.14.99.1 (PTGS2 protein, human) |
| تواريخ الأحداث: | Date Created: 20161122 Date Completed: 20180103 Latest Revision: 20221207 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.eplepsyres.2016.11.004 |
| PMID: | 27871023 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1872-6844 |
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| DOI: | 10.1016/j.eplepsyres.2016.11.004 |