巴西人群中[具体基因名称缺失]基因变异在眼部弓形虫病中的作用。 （注：原文中“Role of and variants”表述不完整，推测可能是有具体基因名称缺失）
Role of and variants on ocular toxoplasmosis in Brazilian individuals.
作者信息
Araujo Warlen Miiller Rocha, Ayo Christiane Maria, Previato Mariana, de Faria Geraldo Magela, Frederico Fábio Batista, Siqueira Rubens Camargo, de Almeida Gildásio Castello, Pereira-Chioccola Vera Lúcia, de Mattos Luiz Carlos, Brandão Cinara Cássia
机构信息
FAMERP Toxoplasma Research Group, Department of Molecular Biology, Faculdade de Medicina de São José do Rio Preto (FAMERP), São Paulo, Brazil.
Ophthalmology Outpatient Clinic, Fundação Faculdade Regional de Medicina, Hospital de Base da Fundação Faculdade Regional de Medicina (HB-FUNFARME), São Paulo, Brazil.
出版信息
Front Ophthalmol (Lausanne). 2023 Jun 29;3:1183167. doi: 10.3389/fopht.2023.1183167. eCollection 2023.
INTRODUCTION
Ocular toxoplasmosis (OT) is an intraocular inflammation caused by infection that affects the retina and choroid, giving rise to posterior uveitis. Genetic polymorphisms in cytokine genes may exert influence in the expression of these molecules and play a significant role in inflammatory responses and susceptibility to OT. The aim of this study was to evaluate the role of polymorphisms rs16944 (-511 C > T) of the gene and rs1800896 (-1082 G > A) of the gene on OT in Brazilian individuals with a serologic diagnosis of and after conducting fundoscopic exams.
METHODS
Participants with a positive serology were classified into two distinct groups according to the presence (G1; = 110) or absence (G2; = 104) of OT. The control group (G3) consisted of individuals without the infection (= 108).
RESULTS
It was observed that the C/C genotype of the gene polymorphism was a protective factor for OT ( = 0.02, OR = 0.28, 95% CI 0.08-0.78 for G1 vs. G2; = 0.03; OR = 0.29, 95% CI 0.09-0.82 for G1 vs. G3), according to the recessive inheritance model.
CONCLUSIONS
The -511C.T polymorphisms of the gene seems to play an important role in the pathogenesis of OT in Brazilian individuals.
引言
眼部弓形虫病（OT）是一种由感染引起的眼内炎症，影响视网膜和脉络膜，导致后葡萄膜炎。细胞因子基因的遗传多态性可能影响这些分子的表达，并在炎症反应和对OT的易感性中发挥重要作用。本研究的目的是评估基因rs16944（-511 C>T）和基因rs1800896（-1082 G>A）多态性在经血清学诊断且进行眼底检查后的巴西OT患者中的作用。
方法
血清学阳性的参与者根据是否存在OT分为两个不同的组（G1；n = 110）或不存在OT（G2；n = 104）。对照组（G3）由未感染的个体组成（n = 108）。
结果
根据隐性遗传模型，观察到基因多态性的C/C基因型是OT的保护因素（G1与G2相比，P = 0.02，OR = 0.28，95%CI 0.08 - 0.78；G1与G3相比，P = 0.03；OR = 0.29，95%CI 0.09 - 0.82）。
结论
基因的-511C.T多态性似乎在巴西个体OT的发病机制中起重要作用。
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