Lan Chenghong, Tam Pancy O S, Chiang Sylvia W Y, Chan Carmen K M, Luk Fiona O J, Lee Gary K Y, Ngai Jasmine W S, Law Jason S S, Lam Dennis S C, Pang Chi-Pui, Lai Timothy Y Y
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong.
Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5596-600. doi: 10.1167/iovs.09-3661. Epub 2009 Jul 23.
To investigate the association of single-nucleotide polymorphisms (SNPs) in the manganese superoxide dismutase (MnSOD) and two chemokine genes (CCL2 and CCL5) in patients with anterior uveitis (AU).
Seventy-nine Chinese patients with acute AU were recruited, and genotyping of four SNPs including MnSOD 47, CCL2 -2518, CCL2 -2076, and CCL5 -403 alleles was performed with SNP genotyping assays. The genotype and allele frequencies were compared between patients with AU and 206 healthy control subjects. Analyses were also stratified according to the HLA-B27 status of the patients.
There were significant increases in the frequency of the AA homozygosity in the MnSOD 47 SNP (P = 0.049) and in the CCL2 -2518G allele frequency and GG homozygosity in patients with AU compared with control subjects (P = 0.017 and P = 0.024, respectively). No significant association was found between AU with the CCL2 -2076 and CCL5 -403 SNPs. Subgroup analyses showed that the MnSOD 47A polymorphism was significantly associated with AU in HLA-B27-positive patients, but not in HLA-B27-negative patients, whereas the CCL2 -2518G polymorphism was significantly associated with AU in HLA-B27-negative patients, but not in HLA-B27-positive patients.
The 47A polymorphism in the MnSOD gene and the -2518G polymorphism in the CCL2 gene are associated with the development of AU in HLA-B27-positive and -negative Chinese patients, respectively. Further studies to evaluate the interactions of the HLA-B27 status and these SNPs are warranted.
研究前葡萄膜炎(AU)患者锰超氧化物歧化酶(MnSOD)及两个趋化因子基因(CCL2和CCL5)中的单核苷酸多态性(SNP)之间的关联。
招募79例中国急性AU患者,采用SNP基因分型检测法对包括MnSOD 47、CCL2 -2518、CCL2 -2076和CCL5 -403等位基因在内的4个SNP进行基因分型。比较AU患者与206例健康对照者的基因型和等位基因频率。分析也根据患者的HLA-B27状态进行分层。
与对照者相比,AU患者中MnSOD 47 SNP的AA纯合子频率显著增加(P = 0.049),CCL2 -2518G等位基因频率及GG纯合子频率也显著增加(分别为P = 0.017和P = 0.024)。未发现AU与CCL2 -2076和CCL5 -403 SNPs之间存在显著关联。亚组分析显示,MnSOD 47A多态性在HLA-B27阳性患者中与AU显著相关,但在HLA-B27阴性患者中无相关性;而CCL2 -2518G多态性在HLA-B27阴性患者中与AU显著相关,但在HLA-B27阳性患者中无相关性。
MnSOD基因的47A多态性和CCL2基因的-2518G多态性分别与HLA-B27阳性和阴性中国患者的AU发生相关。有必要进一步开展研究以评估HLA-B27状态与这些SNP之间的相互作用。