Oestrogen receptor α gene polymorphisms in systemic lupus erythematosus
Oestrogen receptor α gene polymorphisms in systemic lupus erythematosus
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DOI：
10.1136/ard.2004.032425
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发表时间：
2005-11-01
影响因子：
27.4
通讯作者：
Rantapää-Dahlqvist, S
中科院分区：
文献类型：
--
作者：
Johansson, M;Ärlestig, L;Rantapää-Dahlqvist, S
目的：分析瑞典北方260例系统性红斑狼疮（SLE）患者中两种雌激素受体α（OR α）基因多态性的相关性。这两个多态性，PvuII T/C和XbaI A/G，位于OR α基因的第一内含子中。方法：所有患者满足至少四个ACR标准SLE连续招募在一年内。记录SLEDAI评分和SLICC损伤指数。来自同一地理区域的670人作为对照。提取患者和对照的DNA，并使用ABI PRISM 7900 HT仪器使用59核酸酶测定进行基因分型。结果：PvuII C等位基因与颧部皮疹相关，XbaI G等位基因与光敏性相关（P = 0.007，OR = 2.12，95%CI = 1.22 ~ 3.66）。常见的XbaI AA基因型与浆膜炎相关（p = 0.013，OR = 1.92，95%CI = 1.15 ~ 3.22）。基于SLICC损伤指数，确定了常见TT基因型和AA基因型与认知功能障碍的相关性（分别为p = 0.018，OR = 2.47，95%CI = 1.17至5.25和p = 0.018，OR= 2.75，95%CI = 1.19至6.38）。XbaI AA基因型与心绞痛/冠状动脉旁路移植术变量也存在相关性（p = 0.042，OR= 2.58，95%CI = 1.03至6.43）。描述疾病的严重程度和持续时间的变量，它被发现，不寻常的PvuII C等位基因的载体表现出较晚发病的SLE（p = 0.02）和载体的不寻常的XbaI G等位基因较低的SLICC损伤index.Conclusions：不寻常的PvuII C和XbaI G等位基因与较温和的形式SLE的特点是皮肤表现，较晚发病，和较少的器官损伤。
Objective: To analyse associations of two oestrogen receptor alpha (OR alpha) gene polymorphisms in 260 patients with SLE from northern Sweden. The two polymorphisms, PvuII T/C and the XbaI A/G, are located in the first intron of the OR alpha gene.Methods: All patients fulfilling at least four of the ACR criteria for SLE were consecutively recruited during one year. The SLEDAI score and SLICC damage index were recorded. 670 individuals from the same geographical area served as controls. DNA from the patients and controls was extracted and genotyped using the 59 nuclease assay with an ABI PRISM 7900HT instrument. The genotype/phenotype relationships were calculated using SPSS.Results: The unusual PvuII C allele was associated with malar rash and the unusual XbaI G allele with photosensitivity (p = 0.001, OR = 2.53, 95% CI = 1.43 to 4.47 and p = 0.007, OR = 2.12, 95% CI = 1.22 to 3.66, respectively). The common XbaI AA genotype was associated with serositis (p = 0.013, OR = 1.92, 95% CI = 1.15 to 3.22). Based on the SLICC damage index associations of the common TT genotype and AA genotype with cognitive impairment were identified (p = 0.018, OR = 2.47, 95% CI = 1.17 to 5.25 and p = 0.018, OR= 2.75, 95% CI = 1.19 to 6.38 respectively). There was also an association of the XbaI AA genotype with the angina/coronary artery bypass variable (p = 0.042, OR= 2.58, 95% CI = 1.03 to 6.43). Of the variables describing disease severity and duration it was found that carriers of the unusual PvuII C allele showed a later onset of SLE (p = 0.02) and carriers of the unusual XbaI G allele a lower SLICC damage index.Conclusions: The unusual PvuII C and XbaI G alleles were associated with a milder form of SLE characterised by skin manifestations, later onset, and less organ damage.