مورد إلكتروني
Genetics of pain : studies of migraine and pain insensitivity
| العنوان: | Genetics of pain : studies of migraine and pain insensitivity |
|---|---|
| بيانات النشر: | Medicinsk biovetenskap Umeå : Medicinsk biovetenskap 2006 |
| تفاصيل مُضافة: | Norberg, Anna |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Pain is a major public health issue throughout the world. Increased understanding of the different forms of pain and identification of susceptibility genes could contribute to improved treatments. The main aims of this thesis were to identify the underlying genetic causes of pain by studying two large families affected with migraine and pain insensitivity, respectively. Migraine is one of the most common neurovascular disorders, affecting over 12% of the western population. The genetic contribution to migraine is about 50% according to family and twin studies. To identify novel susceptibility loci for migraine, we performed a genome-wide screen in a large family with migraine from northern Sweden. Linkage analysis revealed significant evidence of linkage (LOD=5.41) on chromosome 6p12.2-p21.1. A predisposing haplotype spanning 10 Mb was inherited with migraine in all affected members of the pedigree. Further fine-mapping of multiple SNP markers restricted the disease critical region to 8.5 Mb. Nine candidate genes were sequenced, revealing no disease-associated polymorphisms in SLC29A1, CLIC5, PLA2G7, IL17, SLC25A27 and TNFRSF21, but rare novel polymorphisms segregating with the disease haplotype in EFHC1, RHAG and MEP1A. EFHC1 has recently been shown to be involved in epilepsy, which is interesting considering the link between migraine and epilepsy. However, association analysis of EFHC1 revealed no difference between patients and controls, suggesting that this gene is not a risk factor for migraine. The combination of the two polymorphisms in RHAG and MEP1A could, however, not be found in any control individuals, indicating that they might be involved in genetic predisposition to migraine in this family. Disorders with reduced pain sensitivity are very rare, since pain perception is essential for survival. A number of disorders have still been identified with pain insensitivity and peripheral nerve degeneration as major clinical signs, including the hereditary sens |
| مصطلحات الفهرس: | Migraine, pain insensitivity, susceptibility genes, genome-wide scan, linkage, polymorphism, association, HSAN V, nerve growth factor, neurite outgrowth, Medical Genetics, Medicinsk genetik, Doctoral thesis, comprehensive summary, info:eu-repo/semantics/doctoralThesis, text |
| URL: | Umeå University medical dissertations, 0346-6612 ; 1021 |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | application/pdf English |
| أرقام أخرى: | UPE oai:DiVA.org:umu-776 urn:isbn:91-7264-062-6 1233376584 |
| المصدر المساهم: | UPPSALA UNIV LIBR From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1233376584 |
| قاعدة البيانات: | OAIster |
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