Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients
Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients
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DOI：
10.1080/09273948.2018.1523438
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发表时间：
2019-07-04
影响因子：
3.3
通讯作者：
Mizuki, Nobuhisa
中科院分区：
文献类型：
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作者：
Ohno, Tomoko;Meguro, Akira;Mizuki, Nobuhisa
目的：研究编码KU-MEL-1的ARMC 9基因变异体是否与日本人群中的Vogt-Koyanagi-Harada（VKH）病相关。研究方法：我们招募了380名日本VKH病患者和744名日本健康对照者，对ARMC 9中的7个单核苷酸多态性（SNP）进行基因分型。我们还对ARMC 9区域进行了插补分析，195个插补的SNP被纳入统计分析。结果：与对照组相比，我们观察到患者rs 28690417的A等位基因频率增加（P = 0.0097，比值比（OR）= 1.46）。A等位基因对VKH疾病风险具有显性效应（P = 0.011，OR = 1.51）。但经Bonferroni校正后，这些显著差异消失（校正后P > 0.05）。剩下的201个SNPs没有显示出与疾病风险的任何显著关联。结论：我们的研究表明，ARMC 9变体在VKH疾病的发展中并不起关键作用。
Purpose: To investigate whether variants in the ARMC9 gene encoding KU-MEL-1 are associated with Vogt-Koyanagi-Harada (VKH) disease in a Japanese population. Methods: We recruited 380 Japanese patients with VKH disease and 744 Japanese healthy controls to genotype seven single-nucleotide polymorphisms (SNPs) in ARMC9. We also performed imputation analysis of the ARMC9 region and 195 imputed SNPs were included in the statistical analysis. Results: We observed an increased frequency of the A allele of rs28690417 in patients compared with controls (P = 0.0097, odds ratio (OR) = 1.46). The A allele had a dominant effect on VKH disease risk (P = 0.011, OR = 1.51). However, these significant differences disappeared after Bonferroni correction (corrected P > 0.05). The remaining 201 SNPs did not show any significant association with disease risk. Conclusions: Our study suggests that ARMC9 variants do not play a critical role in the development of VKH disease.