Laboratory of Immunogenomics and Proteomics, Dept of Immunology, Medical Faculty of Palacky University and University Hospital, Olomouc, Czech Republic.
Genes Immun. 2011 Sep;12(6):490-4. doi: 10.1038/gene.2011.27. Epub 2011 May 12.
In the recent genome-wide association study the polymorphisms of annexin A11 (ANXA11) gene were associated with susceptibility to sarcoidosis. Beside the replication of this finding and analysis of local ANXA11 expression in bronchoalveolar lavage cells, we wondered whether 'leading' ANXA11 rs1049550 (R230C) variant might also be related to the clinical manifestation of sarcoidosis. The study included 245 Czech patients with sarcoidosis and 254 healthy control subjects. The frequency of ANXA11()T allele was significantly lower in patients with sarcoidosis (35%) compared with controls (42%, P=0.04, odds ratio=0.77). Furthermore, ANXA11()T allele was less frequent in patients with the infiltration of lung parenchyma by comparison with those with isolated hilar lymphadenopathy (P=0.01). In line with the previous observation, ANXA11 mRNA expression was not deregulated in sarcoidosis and was independent from rs1049550 variant. In conclusion, ANXA11 rs1049550 single nucleotide polymorphism is the susceptibility marker in sarcoidosis, at least in Caucasians. Its role as a disease modifier should be independently replicated.
在最近的全基因组关联研究中，膜联蛋白 A11（ANXA11）基因的多态性与类肉瘤病的易感性有关。除了复制这一发现并分析支气管肺泡灌洗液中局部 ANXA11 的表达外，我们还想知道“主导”的 ANXA11 rs1049550（R230C）变体是否也与类肉瘤病的临床表现有关。该研究包括 245 名捷克类肉瘤病患者和 254 名健康对照者。与对照组（42%）相比，类肉瘤病患者的 ANXA11()T 等位基因频率明显降低（35%，P=0.04，优势比=0.77）。此外，与孤立性肺门淋巴结病患者相比，肺实质浸润患者的 ANXA11()T 等位基因频率较低（P=0.01）。与先前的观察结果一致，ANXA11 mRNA 表达在类肉瘤病中没有失调，并且与 rs1049550 变体无关。总之，ANXA11 rs1049550 单核苷酸多态性是类肉瘤病的易感标志物，至少在白种人中是这样。其作为疾病修饰因子的作用应独立复制。
