0000000000362478
AUTHOR
Liene ŅIkitina-zaķe
Lack of Association Between Rs2067474 Polymorphism in the Histamine Receptor H2 Gene and Gastric Cancer In Latvian Population
Abstract Histamine has an important role in the process of the gastric mucosa inflammation acting via histamine receptor H2 (encoded by the gene HRH2). Single nucleotide polymorphism of the enhancer element of HRH2 gene promoter rs2067474 (1018G>A)may be associated with changes of expression of the receptor. We attempted to clarify the association of this polymorphism with gastric cancer and/or atrophic gastritis in the Latvian (Caucasian) population. The study group consisted of 121 gastric cancer patients and 650 patients with no evidence of gastric neoplasia on upper gastrointestinal endoscopy. Genotyping for rs2067474 was performed with the TaqMan probe-based system using a commercia…
Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia
Abstract Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum …
The Impact of Body Mass Index on Disease Progression in Ankylosing Spondylitis
Abstract Obesity can be a factor that affects the course of chronic systemic inflammatory arthritis. The objective of this study was to characterise patients with ankylosing spondylitis (AS) according to an evaluation of their body mass index (BMI) and by exploring the link between the overweightness and obesity with routinely measured disease-specific variables, including disease activity (Bath Ankylosing Spondylitis Disease Activity Index BASDAI; Ankylosing Spondylitis Disease Activity Score, using CRP, ASDAScrp), spinal mobility (Bath Ankylosing Spondylitis Metrology Index, BASMI), functional capacity (BASFI), extraspinal manifestations like fatigue, uveitis, and peripheral arthritis pre…