Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations, and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR = 25, P =2.9 × 10−14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10−8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
With information about frequency of bone fractures in Russia mostly missing, we assessed the frequency of previous bone fractures in a Russian population. The population-based study Ural Eye and Medical Study included 5899 (80.5%) out of 7328 eligible individuals (mean age: 59.0 ± 10.7 years; range: 40–94 years). The history of previous bone fractures was assessed in a standardized interview for 5397 (91.5%) individuals. Mean frequency of any previous bone fracture was 1650/5397 (30.6%; 95% confidence interval (CI): 29, 3, 31.8). In multivariate analysis, higher frequency of bone fractures was associated with male sex (P < 0.001; odds ratio (OR): 1.67; 95% CI: 1.41, 2.00), urban region (P < 0.001; OR: 1.45; 95% CI: 1.23, 1.72), higher prevalence of vigorous activity during leisure (P < 0.001; OR: 1.42; 95% CI: 1.20, 1.68), current smoking (P = 0.001; OR: 1.46; 95% CI: 1.16, 1.82) and higher prevalence of cardiovascular disease (P = 0.007; OR: 1.29; 95% CI: 1.07, 1.56), low blood pressure episodes with hospital admission (P = 0.001; OR: 2.08; 95% CI: 1.37, 3.16), tumbling (P < 0.001; OR: 2.58; 95% CI: 1.37, 3.16) and thoracic spine pain (P < 0.001; OR: 1.43; 95% CI: 1.18, 1.73). In women, menopause (P < 0.001; OR: 2.17; 95% CI: 1.47, 3.22) was additionally associated. The most common single-bone fractures involved leg and knee (229/5397; 4.2%), hand in general (n = 169; 3.1%) or hand wrist only (n = 97; 1.8%), arm (n = 94; 1.7%) and ankle (n = 67; 1.2%). Severe fractures included spine (n = 35; 0.6%), os sacrum (n = 10; 0.2%), skull (n = 6; 0.1%), pelvis (n = 5; 0.1%) and hip (n = 22; 0.4%). Most frequent combined fractures included as most important part the leg (n = 90; 1.7%), spine (n = 18; 0.3%), and hip (n = 18; 0.3). These data give hints on the epidemiology of bone fractures in Russia.
The UEMS provides population-based normative data for a Russian region on the quantitative traits such as axial length, quality of life and lifestyle including smoking and alcohol consumption, and prevalence and risk factors of ocular and systemic diseases such as diabetes mellitus, arterial hypertension, chronic obstructive pulmonary disease, and depression.
ОфтальмологияOphthalmology иабетическая ретинопатия (ДР) -микрососуди-стое осложнение сахарного диабета (СД) с пер-вичным поражением прекапиллярных артериол, капилляров и посткапиллярных венул с возможным вовле-чением сосудов более крупного калибра и развитием ми-кроаневризм, кровоизлияний, экссудативных изменений, с макулопатией и пролиферацией новообразованных со-судов на глазном дне [1]. В экономически развитых странах одной из ведущих причин слепоты у лиц трудоспособного возраста является ДР, на долю которой приходится 80-90% всей инвалидности по зрению, обусловленной СД [2]. ЭпидемиологияСогласно данным эпидемиологического исследова-ния Wisconsin Epidemiological Study of Diabetic Retinopathy (WESDR), при длительности СД 1 типа (СД1) более 20 лет частота ДР достигает почти 100% [3], с полной потерей зре-ния у каждого 30-го больного [4]. В целом признаки ДР по-являются через 5 лет после начала СД1 у 20% больных, через 10 лет -у 60%, а через 20-30 лет -практически у всех.При СД 2 типа (СД2) через 20 лет после начала за-болевания примерно 2/3 больных имеют ДР, при этом
Структурно-функциональный анализ центральной зоны сетчатки у пациентов с диабетическим макулярным отекомБикбов М.М., Файзрахманов Р.Р., Ярмухаметова А.Л., Зайнуллин Р.М. ГБУ Уфимский НИИ глазных болезней АН РБ, УфаОдним из наиболее значимых проявлений сахарного диабета является поражение сетчатки в виде диабетического макулярного отека (ДМО)
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.