title: Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and atherosclerosis, ischemic stroke and hyperhomocysteinemia.
abstract: ER stress is associated with a range of pathological conditions, among which, the ischemia/reperfusion injury is also found. The mechanistic array of links among the ER stress and thrombovascular diseases is poorly understood. The XBP1 gene is a transcription factor which modulates the ER stress response; and the XBP1 (-116 C/G) gene polymorphism causes an impairment of its positive feedback system. In the present study we investigated the prevalence of XBP1 gene (-116 C/G) polymorphism, separately among the patients with atherosclerosis, ischemic stroke and hyperhomocysteinemia. The G allele and the (-116 G/G) genotype of the XBP1 (-116 C/G) gene polymorphism were found to be a significant risk factor for the patients with Ischemic Stroke. Yet, this allele was seemingly less significant in case of patients with atherosclerosis and hyperhomocysteinemia. Hence, the XBP1 (-116 C/G) gene polymorphism and especially its involvement in a homozygous state are suggested to take active role in the ER stress related ischemia/reperfusion injury.
authors: Ankara University Biotechnology Institute, Ankara, Turkey. eyilmaz@medicine.ankara.edu.tr
authors: Erkan
authors: E
authors: Yilmaz
authors: Rüçhan
authors: R
authors: Akar
authors: Serap Tiraş
authors: ST
authors: Eker
authors: Gülhis
authors: G
authors: Deda
authors: Yekbun
authors: Y
authors: Adiguzel
authors: Nejat
authors: N
authors: Akar
mesh_terms: D050197:Atherosclerosis / Q000235:genetics; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D007511:Ischemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000071701:Regulatory Factor X Transcription Factors; D020521:Stroke / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000071717:X-Box Binding Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors; D000071717:X-Box Binding Protein 1; C000605543:XBP1 protein, human