نتایج جستجو برای: ژن loc387715
تعداد نتایج: 15841 فیلتر نتایج به سال:
زمینه و هدف : دژنراسیون وابسته به سن ماکولا(amd) یک بیماری هتروژنی بالینی است که سبب نارسایی بینایی می¬شود. این بیماری به طور تقریبی افرادی در سنین بالای 60 سال را درگیر می کند. در کنار سن و مصرف سیگار، واریانت¬های ژنتیکی از لوکوس های ژنی متعدد با این بیماری ارتباط دارد. مطالعات پیوستگی وسیع ژنومی نشان داده¬اند که ناحیه¬ی ژنومی واقع بر بازوی بلند کروموزوم 10 (10q26) ممکن است نقش مهمی در استعداد...
مقدمه و هدف: دژنراسیون وابسته به سن ماکولا (amd) بیماری است که نواحی مرکزی رتین و کروئید را تحت تاثیر قرار می دهد و منجر به از دست دادن دید مرکزی می شود. مطالعات در زمینه اتیولوژی این بیماری پیشنهاد می کند که amd یک بیماری پیچیده میباشد که در اثر واکنشها و میان کنشهای چندین ژن و عوامل محیطی ایجاد میشود. یکی از ژنهای شناخته شده در مورد این بیماری، ژن loc387715 میباشد. جایگاه این ژن بر روی کرو...
PURPOSE To examine the association of age-related macular degeneration (AMD) with HtrA serine peptidase 1 (HTRA1) gene rs11200638 G→A polymorphism and LOC387715/ ARMS2 gene rs10490924 G→T polymorphisms, and to evaluate the magnitude of the gene effect and the possible genetic mode of action. METHODS We searched the US National Library of Medicine's PubMed, Embase, OMIM, ISI Web of Science, an...
PURPOSE Single nucleotide polymorphisms (SNPs) in the LOC387715 (rs10490924), HTRA1 (rs11200638), and CFH (rs1061170) genes have been implicated in age-related macular degeneration (AMD). The present study was undertaken to determine the involvement of the LOC387715 and HTRA1 in an AMD cohort from India. METHODS The coding region of LOC387715 (exon 1) and the promoter of HTRA1 were screened b...
Purpose: To examine the common single-nucleotide polymorphisms in complement factor H (CFH), LOC387715, and HTRA1 genes as potential risk factors for exudative age-related macular degeneration (AMD) in the mainland Chinese. Methods: A cohort of 121 unrelated patients with exudative AMD and 132 ageand sexmatched control subjects, all unrelated ethnic Chinese from Northern China, enrolled in this...
Age-related maculopathy (ARM) is an important cause of visual impairment in the elderly population. It is of crucial importance to identify genetic factors and their interactions with environmental exposures for this disorder. This study was aimed at investigating the CFH, ELOVL4, PLEKHA1 and LOC387715 genes in independent cohorts collected using different ascertainment schemes. The study used ...
BACKGROUND Variants in the complement cascade genes and the LOC387715/HTRA1, have been widely reported to associate with age-related macular degeneration (AMD), the most common cause of visual impairment in industrialized countries. METHODS/PRINCIPAL FINDINGS We investigated the association between the LOC387715 A69S and complement component C3 R102G risk alleles in the Finnish case-control m...
We investigated the association between the LOC387715/ARMS2 polymorphism (rs10490924 G>T) and susceptibility to polypoidal choroidal vasculopathy (PCV) through a meta-analysis of 1446 cases and 3255 controls from eight case-control studies. The genetic effect of the LOC387715/ARMS2 rs10490924 G>T polymorphism on PCV was assessed by calculating pooled odds ratios (ORs) with 95% confidence ...
A common haplotype on 10q26 influences the risk of age-related macular degeneration (AMD) and encompasses two genes, LOC387715 and HTRA1. Recent data have suggested that loss of LOC387715, mediated by an insertion/deletion (in/del) that destabilizes its message, is causally related with the disorder. Here we show that loss of LOC387715 is insufficient to explain AMD susceptibility, since a nons...
PURPOSE Variants in complement factor H (CFH), the hypothetical LOC387715, and the high-temperature requirement A-1 (HTRA1) genes have been reported to be associated with age-related macular degeneration (AMD). The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNPs) in CFH, LOC387715, and HTRA1 with exudative AMD in a northern Chine...
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