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MIF 基因多态性与汉族人易患 Vogt-Koyanagi-Harada 综合征相关。

MIF gene polymorphisms confer susceptibility to Vogt-Koyanagi-Harada syndrome in a Han Chinese population.

机构信息

Jinan Mingshui Eye Hospital, Jinan, People's Republic of China.

出版信息

Invest Ophthalmol Vis Sci. 2013 Nov 21;54(12):7734-8. doi: 10.1167/iovs.13-12187.

Abstract

PURPOSE

The aim of the study was to determine the association of macrophage migration inhibitory factor (MIF) gene polymorphisms with Vogt-Koyanagi-Harada (VKH) syndrome.

METHODS

A total of 600 Han Chinese VKH patients and 600 healthy controls were genotyped for rs755622 and rs2096525 of MIF by PCR-restriction fragment length polymorphism (PCR-RFLP) assay. Data were analyzed by χ(2) analysis.

RESULTS

Genotype distribution in controls was in Hardy-Weinberg equilibrium. The frequencies of the rs755622 GG genotype and G allele were significantly lower in VKH patients compared with controls (Pc = 0.006 and 0.016). Stratification analysis showed decreased frequencies of the rs755622 GG genotype and G allele in patients, respectively with headache, tinnitus, alopecia, poliosis or vitiligo compared with controls (all Pc < 0.05). rs2096525 genotype and allele frequencies were not different between VKH patients and controls. However, a lower frequency of the rs2096525 TT genotype was observed in patients with headache compared with controls (Pc < 0.05). The frequencies of the rs2096525 T allele in patients with headache or vitiligo were significantly decreased compared with controls (Pc = 8.54 × 10(-4) and 0.012). In addition, the results showed a significantly increased frequency of the combined rs755622/rs2096525 CT haplotype and a decreased frequency of the GT haplotype in VKH patients compared with controls.

CONCLUSIONS

Our study identified a strong association of rs755622 with VKH syndrome and certain clinical features. rs2096525 was associated with certain clinical features of VKH syndrome. The results also suggested that the CT and GT haplotypes were associated with VKH syndrome.

摘要

目的

本研究旨在探讨巨噬细胞移动抑制因子(MIF)基因多态性与 Vogt-小柳原田综合征(VKH)的相关性。

方法

采用 PCR-限制性片段长度多态性(PCR-RFLP)方法对 600 例汉族 VKH 患者和 600 例健康对照者的 MIF 基因 rs755622 和 rs2096525 进行基因分型。采用卡方检验进行数据分析。

结果

对照组的基因型分布符合 Hardy-Weinberg 平衡。与对照组相比,VKH 患者的 rs755622 GG 基因型和 G 等位基因频率显著降低(Pc=0.006 和 0.016)。分层分析显示,与对照组相比,分别伴有头痛、耳鸣、脱发、白发或白癜风的患者中 rs755622 GG 基因型和 G 等位基因频率降低(均 Pc<0.05)。rs2096525 基因型和等位基因频率在 VKH 患者和对照组之间无差异。然而,与对照组相比,头痛患者的 rs2096525 TT 基因型频率较低(Pc<0.05)。头痛或白癜风患者 rs2096525 T 等位基因频率明显低于对照组(Pc=8.54×10(-4) 和 0.012)。此外,研究结果显示,与对照组相比,VKH 患者 rs755622/rs2096525 CT 单体型频率显著升高,GT 单体型频率降低。

结论

本研究发现 rs755622 与 VKH 综合征及某些临床特征有很强的相关性。rs2096525 与 VKH 综合征的某些临床特征有关。结果还提示 CT 和 GT 单体型与 VKH 综合征有关。

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