Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene.

Jakab L; Laki J; Sallai K; Temesszentandrasi G; Pozsonyi T; Kalabay L; Varga L; Gombos T; Blasko B; Biro A; Madsen HO; Radics J; Gergely P; Fust G; Czirjak L; Garred P; Fekete B

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Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene.

机译：系统性红斑狼疮（SLE）的早期发作和器官表现与MBL2基因下调的启动子多态性之间的关联。

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The serum concentration of mannose-binding lectin (MBL) is genetically determined by a series of allelic polymorphisms in the MBL2 gene. Since several polymorphisms of the MBL2 gene have been suggested to be risk locus for systemic lupus erythematosus (SLE), we investigated MBL2 polymorphisms in 315 SLE patients from Hungary and 182 geographically matched healthy controls. Within the group of patients, we found that homozygotes for an MBL2 down-regulating promoter polymorphism at position -221 (YA to XA) (rs7096206) were significantly (p=0.017) younger at diagnosis than the other patients. The frequency of juvenile-onset SLE (

机译：甘露糖结合凝集素（MBL）的血清浓度是通过MBL2基因中的一系列等位基因多态性遗传确定的。由于MBL2基因的几种多态性已被认为是系统性红斑狼疮（SLE）的危险源，我们在匈牙利的315名SLE患者和182名地理匹配的健康对照者中调查了MBL2多态性。在该组患者中，我们发现在-221位（YA至XA）（rs7096206）处MBL2下调启动子多态性的纯合子在诊断时比其他患者年轻（p = 0.017）。与其他患者（5.6％）相比，XA / XA纯合子（<7.4％）中青少年SLE的发生频率（<或= 20岁）特别高。与其余患者相比，XA / XA携带者的皮肤表现（p = 0.003）和胸膜炎/心包炎（p = 0.013）的发生风险明显更高。这些数据表明，MBL可能通过待鉴定的机制在SLE患者中充当疾病调节剂。

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《Clinical immunology: The official journal of the Clinical Immunology Society》 |2007年第3期|共7页
作者
Jakab L; Laki J; Sallai K; Temesszentandrasi G; Pozsonyi T; Kalabay L; Varga L; Gombos T; Blasko B; Biro A; Madsen HO; Radics J; Gergely P; Fust G; Czirjak L; Garred P; Fekete B;
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正文语种 eng
中图分类医学免疫学;
关键词
Adult; Age Distribution; Age of Onset; Down-Regulation; Female; Genetic Predisposition to Disease; 成年人; 年龄分布; 发病年龄; 疾病遗传易感性; 红斑狼疮; 系统性; 启动区(遗传学);

机译：Adult;Age Distribution;Age of Onset;Down-Regulation;Female;Genetic Predisposition to Disease;成年人;年龄分布;发病年龄;疾病遗传易感性;红斑狼疮;系统性;启动区(遗传学);

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1. Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene. [J] . Jakab L, Laki J, Sallai K, Clinical immunology: The official journal of the Clinical Immunology Society . 2007,第3期

机译：系统性红斑狼疮（SLE）的早期发作和器官表现与MBL2基因下调的启动子多态性之间的关联。
2. Clinical Manifestations and Disease Activity Comparison between Childhood-onset and Adult-onset Systemic Lupus Erythematosus (SLE) - The 1000 Canadian Faces of Lupus Cohort [J] . Kim Hyein, Clarke Ann, Pineau Christian, The Journal of rheumatology . 2016,第6期

机译：童年发病和成人发病系统狼疮红斑狼疮（SLE）之间的临床表现和疾病活动 - 1000年加拿大曲群
3. Mannose binding lectin (MBL) 2 gene polymorphism & its association with clinical manifestations in systemic lupus erythematosus (SLE) patients from western India [J] . Pradhan Vandana, Surve Prathamesh, Rajadhyaksha Anjali, The Indian journal of medical research. . 2015,第6期

机译：印度西部系统性红斑狼疮（SLE）患者的甘露糖结合凝集素（MBL）2基因多态性及其与临床表现的关系
4. Autoimmune hepatitis as the first manifestation of systemic lupus erythematosus (SLE) [C] . A. HINSBERGER, U. NEUDORF, A. BALLAUFF Falk Symposium . 2002

机译：自身免疫性肝炎作为Systemic Lupus红斑的第一个表现（SLE）
5. The role of interferon regulatory factor-5 in Systemic Lupus Erythematosus (SLE) and SLE-associated atherosclerosis. [D] . Watkins, Amanda A. 2014

机译：干扰素调节因子5在系统性红斑狼疮（SLE）和SLE相关的动脉粥样硬化中的作用。
6. Mannose binding lectin (MBL) 2 gene polymorphism its association with clinical manifestations in systemic lupus erythematosus (SLE) patients from western India [O] . Vandana Pradhan, Prathamesh Surve, Anjali Rajadhyaksha, 2015

机译：印度西部系统性红斑狼疮（SLE）患者的甘露糖结合凝集素（MBL）2基因多态性及其与临床表现的关系
7. Mannose binding lectin (MBL) 2 gene polymorphism & its association with clinical manifestations in systemic lupus erythematosus (SLE) patients from western India [O] . Vandana Pradhan, Prathamesh Surve, Anjali Rajadhyaksha, 2015

机译：甘露糖结合凝集素（mBL）2基因多态性及其与印度西部系统性红斑狼疮（sLE）患者临床表现的关系

Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene.

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