Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.
Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population.
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DOI：
10.12659/msm.881854
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发表时间：
2011-07
期刊：
影响因子：
--
通讯作者：
Szaflik JP
中科院分区：
文献类型：
--
作者：
Majsterek I;Markiewicz L;Przybylowska K;Gacek M;Kurowska AK;Kaminska A;Szaflik J;Szaflik JP
原发性开角型青光眼（Primary open angle glaucoma，POAG）被认为是世界范围内不可逆性失明的主要原因。基质金属蛋白酶（MMPs）及其抑制剂（TIMPs）作为POAG的危险因素已被广泛研究。近年来，在原发性开角型青光眼患者中发现了MMPs和TIMPs编码基因的单核苷酸多态性。本研究的目的是调查波兰人群中−1607 1G/2G MMP 1和372 T/C TIMP 1基因多态性与POAG风险的相关性。在本病例对照研究中，我们检查了一组449名无关的白人受试者，包括196名POAG患者（66名男性和130名女性;平均年龄70±14岁）和253名对照（72名男性和181名女性;平均年龄67±16岁）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测MMP 1 -1607 1G/2G和TIMP 1 - 372 T/C基因多态性。计算每个基因型和等位基因的比值比（OR）和95%置信区间（CI）。我们发现与健康对照组相比，POAG患者MMP 1的2G/2G基因型（OR 1.73; 95%CI 1.05-2.86; p=0.019）以及2G等位基因频率（OR 1.34; 95%CI 1.03-1.75; p=0.017）在统计学上显著增加。TIMP 1基因多态性的基因型和等位基因分布及比值比在患者组和对照组之间均无差异。我们也没有发现TIMP 1与MMP 1基因-基因相互作用和POAG发生的风险有任何关联。总之，我们认为MMP 1基因的−1607 1G/2G多态性可能是波兰人群原发性开角型青光眼的一个重要危险因素。然而，需要进一步的体内研究来评估MMPs多态性作为POAG危险因素的生物学意义。
Primary open angle glaucoma (POAG) is considered to be a leading cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as POAG risk factors. Recently, several single-nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients. The aim of this study was to investigate association of the −1607 1G/2G MMP1 and 372 T/C TIMP1 gene polymorphisms with risk of POAG in a Polish population. In the present case-control study we examined a group of 449 unrelated Caucasian subjects consisting of 196 POAG patients (66 males and 130 females; mean age 70±14) and 253 controls (72 males and 181 females; mean age 67±16). The MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05–2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03–1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the TIMP1 polymorphism between patients and controls group. We also did not find any association of TIMP1 with MMP1 gene-gene interaction and risk of POAG occurrence. In conclusion, we suggest that the −1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population. However, further in vivo study is needed to evaluate biological importance of MMPs polymorphisms as a risk factor of POAG.
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