Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population
Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population
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DOI：
10.1038/eye.2013.123
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发表时间：
2013-08-01
期刊：
影响因子：
3.9
通讯作者：
Mizuki, N.
中科院分区：
文献类型：
--
作者：
Kato, T.;Meguro, A.;Mizuki, N.
染色体7 q31上的caveolin 1 to caveolin 2（CAV 1-CAV 2）基因区域与原发性开角型青光眼（primary open angle glaucoma，POAG）和正常眼压性青光眼（normal tension glaucoma，NTG）的易感性相关。我们研究了日本患者中CAV 1-CAV 2区域的遗传变异是否与NTG相关。招募了292名日本NTG患者和352名日本健康对照。我们对CAV 1-CAV 2基因区的三个单核苷酸多态性进行了基因分型，即rs 1052990、rs 4236601和rs7795356，并评估了病例组和对照组之间的等位基因多样性。NTG组rs 1052990等位基因G的频率显著低于对照组（P = 0.014，OR = 0.71），而NTG组和POAG组的等位基因G的频率显著高于对照组（P = 0.014，OR = 0.71）。相反，rs7795356与NTG病例无显著相关性，rs 4236601在日本研究人群中呈单态性。我们的研究结果与以前的阳性结果不一致，表明本研究中研究的CAV 1-CAV 2变异不是所有人群NTG易感性的重要危险因素。需要进一步的研究来阐明CAV 1-CAV 2区域对青光眼发展的可能贡献。
The caveolin 1 to caveolin 2 (CAV1-CAV2) gene region on chromosome 7q31 has been reported to be associated with susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) in previous studies. We investigated whether genetic variants in the CAV1-CAV2 region are associated with NTG in Japanese patients. Two hundred and ninety-two Japanese patients with NTG and 352 Japanese healthy controls were recruited. We genotyped three single-nucleotide polymorphisms; that is, rs1052990, rs4236601, and rs7795356, in the CAV1-CAV2 gene region and assessed the allelic diversity among cases and controls. The frequency of the minor allele (G) of rs1052990 was significantly decreased in NTG cases compared with controls (P = 0.014, OR = 0.71), whereas NTG or POAG cases had a significantly higher frequency of the allele than controls in previous studies. Conversely, rs7795356 did not show any significant association with NTG cases, and rs4236601 was monomorphic in the Japanese study population. Our findings did not correspond with previous positive results, suggesting that CAV1-CAV2 variants studied in the present study are not important risk factors for NTG susceptibility in all populations. Further studies are needed to elucidate the possible contribution of the CAV1-CAV2 region to the development of glaucoma.