Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis.
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis.
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DOI：
10.2147/opth.s4727
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发表时间：
2009
期刊：
影响因子：
--
通讯作者：
Mizuki N
中科院分区：
文献类型：
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作者：
Kamio M;Meguro A;Ota M;Nomura N;Kashiwagi K;Mabuchi F;Iijima H;Kawase K;Yamamoto T;Nakamura M;Negi A;Sagara T;Nishida T;Inatani M;Tanihara H;Aihara M;Araie M;Fukuchi T;Abe H;Higashide T;Sugiyama K;Kanamoto T;Kiuchi Y;Iwase A;Ohno S;Inoko H;Mizuki N
研究携带CYP1B1基因的GLC3A位点是否与日本患者的正常眼压性青光眼（NTG）相关。招募了142名日本NTG患者和101名日本健康对照。选择表现出相对较早发病的患者，因为这表明遗传因素可能表现出更强的参与。对GLC3A位点及其周围的13个高度多态性微卫星标记进行基因分型和等位基因多样性评估。与对照组相比，病例组D2S0416i的444等位基因和D2S0425i的258等位基因的频率降低（分别为P = 0.022和P = 0.034）。然而，当校正时，这种统计学显著性消失（Pc > 0.05）。其余11个微卫星标记，包括可能与CYP1B1相关的D2S177，与NTG之间未发现显著相关性（P > 0.05）。我们的研究表明GLCA3基因座和NTG之间没有关联，这表明CYP1B1基因，据报道参与了一系列青光眼表型，可能不是NTG发病机制的相关因素。
To investigate whether the GLC3A locus harboring the CYP1B1 gene is associated with normal tension glaucoma (NTG) in Japanese patients. One hundred forty-two Japanese patients with NTG and 101 Japanese healthy controls were recruited. Patients exhibiting a comparatively early onset were selected as this suggests that genetic factors may show stronger involvement. Genotyping and assessment of allelic diversity was performed on 13 highly polymorphic microsatellite markers in and around the GLC3A locus. There were decreased frequencies of the 444 allele of D2S0416i and the 258 allele of D2S0425i in cases compared to controls (P = 0.022 and P = 0.034, respectively). However, this statistical significance disappeared when corrected (Pc > 0.05). We did not find any significant association between the remaining 11 microsatellite markers, including D2S177, which may be associated with CYP1B1, and NTG (P > 0.05). Our study showed no association between the GLCA3 locus and NTG, suggesting that the CYP1B1 gene, which is reportedly involved in a range of glaucoma phenotypes, may not be an associated factor in the pathogenesis of NTG.