Toll样受体3基因单核苷酸多态性与湿性年龄相关性黄斑变性的关联研究

目的 分析中国平原地区汉族人群Toll样受体3(toll-like receptor 3,TLR3)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)的基因型分布,探讨该基因SNP与湿性年龄相关性黄斑变性(age-related macular degeneration,AMD)的相关关系.方法 本研究是以医院病例资料为基础的对照研究.收集南通大学附属医院确诊的湿性AMD患者109例(病例组)及同一地区正常对照150例(对照组),采用TaqMan-MGB荧光探针法检测TlR3外显子4片段上SNP位点Leu412Phe(rs3775291),比较两组等住基因及基因型的频率分布.结果 在平原地区汉族人群中TLR3基因ku412Phe存在三种基因型(CC、CT、TT),其分布频率分别为48.7%、44.O%、7.3%.病例组与对照组年龄、性别、吸烟情况差异均无统计学意义(均为P＞0.05),两组具有可比性.病例组的基因型频率分别为CC 57.8%、CT 34.9%、TT7.3%,同对照组相比差异均无统计学意义(均为P＞0.05).病例组等住基因T的频率低于对照组(分别为25%和29%),但2组差异无统计学意义(P=0.25).结论 中国平原地区汉族人群中TLR3基因的SNP位点rs3775291与湿性AMD的发生无明显相关性.     

年龄相关性白内障患者沉默信息调节因子1(SIRT1)的单核苷酸多态性研究

目的 探讨江苏汉族人群中沉默信息调节因子1(silent information regulator 1,SIRTl)基因的单核苷酸多态性(single nucleotide polymorphism,SNP)与年龄相关性白内障(age-related cataract,ARC)的关系.方法 采用分子流行病学病例对照研究方法和Taq-Man RT-PCR法,检测江苏眼病研究苏南无锡市滨湖区、苏北盐城市阜宁县基地人群720例ARC,701例与患者年龄、性别相匹配且无亲属关系的健康者为正常对照组的SIRT1基因5个位点(rs2236319、rs1885472、rs10997868、rs2273773、rs4746720) SNP的基因型,入选者均为汉族.结果 SIRT1基因rs10997868位点不符合哈迪-温伯格平衡,故排除出结果分析.SIRT1基因SNP位点rs2236319及rs1885472在对照组中基因型(AA/AG/GG、CC/CG/GG)的分布频率分别为40.08％、52.60％、7.32％及35.81％、35.23％、28.96％,在ARC组中的基因型分布频率分别为36.94％、56.25％、6.81％及36.67％、32.92％、30.42％.SNP位点rs2273773及rs4746720在对照组中基因型(CC/CT/TT)的分布频率分别为38.37％、54.78％、5.85％及74.75％、17.69％、7.56％,在ARC组中的基因型分布频率分别为39.58％、54.17％、6.25％及71.81％、20.97％、7.22％.两组间各基因型分布频率差异均无统计学意义(均为P＞0.05).结论 SIRT1基因SNP(rs2236319、rs1885472、rs2273773、rs4746720)与江苏汉族人群中ARC发病不相关.     

汉族人群Toll样受体3基因启动子区rs128912单核苷酸多态性与白内障的关系

目的：分析汉族人群Toll样受体3(TLR3)基因启动子区rs128912单核苷酸多态性(SNP)与白内障的关系。

方法：选取2019-06/2021-06我院收治的白内障患者263例作为研究组，晶状体脱位患者150例作为对照组。采用免疫印迹法(Western blotting)检测两组患者晶状体前囊膜组织中TLR3蛋白表达情况，采用直接测序法分析TLR3基因启动子区rs128912位点多态性，采用实时荧光定量-聚合酶链式反应(RT-qPCR)法检测不同基因型患者外周血TLR3 mRNA表达情况。

结果：研究组患者前囊膜组织中TLR3蛋白相对表达水平高于对照组(P<0.05)。研究组和对照组患者TLR3基因启动子区rs128912位点基因型(AA、AT、TT)频率均符合Hardy-Weinberg遗传平衡定律，且两组患者间TLR3基因启动子区rs128912位点基因型(AA、AT、TT)频率和等位基因(A、T)频率均有差异(P<0.05)。研究组中TT基因型患者外周血TLR3 mRNA相对表达水平均高于AA和AT基因型患者(P<0.05)。

结论：白内障患者晶状体前囊膜组织中TLR3蛋白表达明显上调，且TLR3基因启动子区rs128912位点多态性与汉族人群白内障易感性有关，携带TT基因型者更易发生白内障。     

脂联素基因SNP＋276多态性与糖尿病性视网膜病变的关系

目的 分析重庆地区汉族人群脂联素基因SNP＋276 G／T、的基因型分布,探讨该多态性与糖尿病性视网膜病变的相关关系方法在重庆地区汉族人群中选取100例2型糖尿病患者、98例糖尿病性视网膜病变患者和69例正常对照组,采用聚合酶链式反应-限制性内切酶长度多态性（PCR-RFLP）方法检测脂联素基因SNP＋276的多态性位点,比较各组基因型及等位基因频率分布结果①脂联素基因SNP＋276在重庆地区汉族人群中存在三种基因型（G／G、G／T、T/T），对照组的分布频率分别为42．0％、47．8％、10．1％，糖尿病无视网膜病变组的分布频率分别为53．0％、39．0％、8．0％,糖尿病性视网膜病变组的分布频率分别为42．9％、37．8％、19．4％。②对照组、糖尿病无视网膜病变组及糖尿病性视网膜病变组三组脂联素基因SNP＋276基因型分布频率比较差异无统计学意义。③对照组、糖尿病无视网膜病变组及糖尿病性视网膜病变组的G等位基因频率分别为65．9％、72．5％、61．7％；三组脂联素基因SNP＋276等位基因的分布频率比较差异无统计学意义，结论脂联素基因SNP＋276多态性位点与重庆地区汉族人群中糖尿病性视网膜病变的发生无明显相关性。     

TERT基因单核苷酸多态性与年龄相关性黄斑变性的关联研究

目的：探讨端粒酶逆转录酶(TERT)基因单核苷酸多态性(SNP)与年龄相关性黄斑变性(ARMD)发生风险的关联性。

方法：采用高通量基因质谱技术检测191例ARMD患者(病例组)和197例健康体检者(对照组)TERT基因7个已报道的与端粒长度有关的SNP位点,通过Logistic回归评估其等位基因、基因型与ARMD发病风险的关系。

结果：TERT基因SNP位点rs10069690基因型CC、CT、TT在病例组和对照组受检者中的分布频率分别为64.4%、31.4%、4.2%和74.6%、22.8%、2.5%,人群分布存在显著差异; 携带CT+TT基因型的人群发生ARMD的风险显著增加(OR=1.63,95%CI 1.05～2.53)。

结论：TERT基因SNP位点rs10069690与ARMD发病风险存在显著关联。     

DNA甲基化转移酶(DNMT)3b基因的单核苷酸多态性与年龄相关性白内障

目的 探讨江苏汉族人群中DNA甲基化转移酶(DNA methyltransferases,DNMT)3b基因的单核苷酸多态性(single nucleotide polymorphisms,SNP)与年龄相关性白内障(age-related cataract,ARC)的相关性.方法 选择江苏眼病研究阜宁县基地人群ARC确诊患者357例为ARC组,356例与患者年龄、性别相匹配且无亲属关系的健康者为对照组,入选者均为汉族.采用荧光定量PCR方法检测DNMT3b基因3个位点(rs2424908、rs6119954、rs2424932)SNP.Stata 13.0软件进行统计分析.结果 rs2424908位点不符合哈迪-温伯格平衡,故排除出结果分析.SNP位点rs6119954及rs2424932在对照组中基因型AA、AG、GG的分布频率分别为12.26％、43.73％、44.01％和0.28％、12.64％、84.55％,在ARC组中的分布频率分别为9.52％、32.49％、43.98％和0.28％、16.48％、83.24％,两组间各基因型分布频率差异均无统计学意义(均为P＞0.05).结论 DNMT3b基因SNP的位点rs6119954、rs2424932与江苏汉族人群中ARC发病无相关性.     

视觉同源基因多态性与散发性圆锥角膜易感性的关联研究

背景圆锥角膜是双侧、非炎性、角膜中央进行性变薄的疾病。研究圆锥角膜的相关致病基因对于明确该病的发病机制和建立基因早期诊断标准及治疗措施意义重大。目的探讨视觉同源基因（VSXl）多态性与散发性圆锥角膜患病风险的关系。方法采用病例一对照研究方法。收集散发性圆锥角膜患者101例和健康志愿者80人,受试者均为汉族,所有患者经裂隙灯（Vogt条纹、Fleischer环、Munson症等）和角膜地形图检查确诊。运用MassARRAY单核苷酸多态性（SNP）分型技术对VSXl基因SNP进行检测,采用统一的调查问卷收集每个研究对象详细的人口学资料和相关危险因素暴露资料,用x。检验和二元Logistic回归模型分析比较圆锥角膜组和正常对照组问各位点等位基因频率及基因型频率分布的差异,并分析其与圆锥角膜患病风险的关系。结果中国汉族人群中仅发现rs743018（C．843＋140C〉T）和rs6138482（R217HC〉T）两个位点具有多态性,其余位点未见多态性。与正常对照组比较,圆锥角膜组中2个SNP位点基因型频率与等位基因频率差异均无统计学意义（P〉0．05）。校正年龄、性别因素后,各SNP位点与圆锥角膜患病风险之间无显著相关性[隐性模型下：rs743018（C〉T）校正P=0．35,OR=0．72,95％CI：0．37～1．43;rs6138482（C〉T）校正P=0．48,OR=0．76,95％C1：0．35～1．64]。结论本研究发现中国汉族人群VSX1基因有2个SNP位点,但其多态性可能与圆锥角膜的患病无关。由于基因型和等位基因频率存在着种族差异性,VSX1基因在圆锥角膜发病机制中的作用仍存在争议,有待进一步研究证实。     

中国汉族人群SOX2基因与高度近视的关联研究

目的　研究SOX2是否可作为中国汉族人群高度近视的候选基因,寻找与高度近视关联的致病基因位点。方法　采用病例-对照关联分析法。将同意参加本研究的83例（160眼）正视者作为对照组,117例（211眼）高度近视患者作为病例组,所有患者均进行详细的眼部检查,并提取外周血白细胞基因组DNA。在中国汉族北京居民的基因型数据库中选取3个标签单核苷酸多态性（single nucleotide polymorphism,SNP）位点,采用SNP直接测序法进行基因分型检测。根据所有样本所得各标签SNP的基因型,计算其基因型和等位基因频率,并使用Bonferroni法进行多重检验矫正;采用χ²检验比较病例组和对照组之间等位基因频率及基因型频率分布是否有差异。结果　3个标签SNP位点（rs11915160、rs4575941、rs4459940）的基因型结果在病例组和对照组中都符合Hardy-Weinberg平衡,本研究人群具有一定的代表性。rs4575941位点的基因型频率和等位基因频率在病例组和对照组间的差异均具有统计学意义（P=0.04、0.03）,但经Bonferroni法矫正后,两组等位基因频率差异无统计学意义（Pc=0.09）;病例组rs4575941位点的等位基因G的频率明显高于对照组,OR值为1.58,等位基因G可能是高度近视的一个危险基因。结论　中国汉族人群SOX2基因SNP位点rs4575941与高度近视之间的关联存在可疑性,为了明确相关性,需要进一步扩大样本量,选择合适的多重检验方法,并结合其他手段进行大数据分析。     

汉族人群MMP-9基因单核苷酸多态性与PACG的相关性

目的：探讨基质金属蛋白酶9(extracellular matrix metalloprotease 9,MMP-9)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与汉族人群原发性闭角型青光眼(primary angle closure glaucoma,PACG)易感性的关联。

方法：选取我院2014-01/2016-12收治的200例汉族PACG患者作为PACG组,同时招募200例汉族体检健康者作为正常对照组。常规外周静脉采集,提取全血基因组DNA,采用聚合酶链反应-限制性片段长度多态性技术(polymerase chain reaction- restriction fragment length polymorphism,PCR-RFLP)检测两组受检者MMP-9基因rs2250889、rs2274755及rs2664538位点等位基因及基因型,分析等位基因和基因型频率分布及其与PACG易感性之间的关系。

结果：两组受检者年龄、性别、体质量指数、血压等一般资料差异均无统计学意义(P>0.05)。MMP-9基因rs2250889、rs2274755及rs2664538位点基因型频率均符合哈迪-温伯格平衡(Hardy-Weinberg equilibrium)。两组受检者rs2250889和rs2664538位点基因型及等位基因频率分布差异均有统计学意义(P<0.05),而rs2274755位点基因型及等位基因频率分布差异均无统计学意义(P>0.05)。rs2250889位点中携带CC基因型人群为PACG的易感人群。同样,rs2664538位点中携带GG基因型人群为PACG的易感人群。

结论：汉族人群中,MMP-9基因rs2250889和rs2664538位点多态性与 PACG 的发病存在一定关联,而rs2274755位点多态性与PACG的易感性无关。     

维生素D受体基因多态性与2型糖尿病患者视网膜病变的相关性分析

目的：探讨维生素D受体基因多态性与2型糖尿病(T2DM)患者视网膜病变的相关性。

方法：筛选2018-02/2019-01我院收治的T2DM患者198例作为研究对象,分为糖尿病性视网膜病变(DR)组(n=108)和非DR组(n=90)。应用聚合酶链反应-限制性片段长度多态性对rs1544410、rs2228570位点多态性进行检测。非条件Logistic回归分析rs1544410、rs2228570基因多态性与2型糖尿病患者视网膜病变的关系。

结果：DR组VDR基因rs1544410位点T等位基因频率、rs2228570位点A等位基因频率均显著高于非DR组(P<0.05); CC基因型130例,CT基因型52例,TT基因型16例,CC基因型与CT+TT基因型相关指标比较有差异(P<0.05); GG基因型121例,GA基因型59例,AA基因型18例,GG基因型与GA+AA基因型相关指标比较有差异(P<0.05); BsmI基因CT+TT基因型、FokI基因GA+AA基因型是DR的危险因素(P<0.05)。

结论：VDR基因BsmI、FokI多态性与2型糖尿病视网膜病变显著相关,可能是2型糖尿病视网膜病变的易感基因位点。     

Lack of Association Between LOXL1 Gene Polymorphisms and Primary Open Angle Glaucoma in the Saudi Arabian Population

Purpose: To investigate whether major single nucleotide polymorphisms (SNPs) in the LOXL1 gene associated with pseudoexfoliation glaucoma are associated with primary open angle glaucoma (POAG) in the Saudi Arabian population.

Methods: The regions of the LOXL1 gene associated with pseudoexfoliation glaucoma, encompassing the three common SNPs, (rs1048661, rs3825942 and rs2165241), were sequenced in a Saudi Arabian dataset consisting of 96 POAG cases and 101 healthy controls.

Results: The allele frequency of the G exfoliation risk allele for SNP rs1048661 in POAG cases and controls was 0.75 and 0.76 (p?=?0.886), respectively and the allele frequency difference was not statistically significant (p?=?0.866). There was no statistically significant difference in the genotypes between patients and controls (p?=?0.261 and 0.156 for genotypes G/G and G/T respectively). As for SNP rs3825942, the frequency of the “G” allele in the POAG patients was comparable to that in the controls (p?=?0.477) and there was no statistically significant difference in genotype G/G and A/G frequency in the study groups. As for SNP rs2165241, the “T” allele frequency in the POAG patients (0.46) was slightly higher than the frequency in controls (0.39), but this difference was not statistically significant (p?=?0.176).

Conclusion: The Saudi Arabian POAG population, similar to all other populations studied to date, demonstrates no association with SNPs associated with pseudoexfoliation glaucoma.     

Association of catalase polymorphisms with primary open-angle glaucoma in a Chinese population

Purpose: Many genes have been associated with primary open-angle glaucoma (POAG). This study was conducted to investigate whether catalase (CAT) polymorphisms play a significant role in POAG in a Chinese population.

Methods: A cohort of 416 unrelated POAG patients and 997 unrelated control subjects was included in this case–control association study. CAT functional single-nucleotide polymorphisms (SNPs), including rs1001179, rs7943316, and rs769217, were genotyped by SNaPshot method. The genotype and allele frequencies were evaluated using the χ² tests. The linkage disequilibrium (LD) and haplotype block structure association were examined using the program Haploview (Broad Institute, Cambridge, MA).

Results: There was a statistically significant difference for CAT functional SNP rs769217 between POAG cases and controls in the allelic model (p = 0.004, OR = 1.27, 95% CI 1.08–1.49). At this SNP, the allele frequency of the C allele in POAG cases was 0.587, which was higher than that in controls (0.528). However, no association was found for rs1001179 and rs7943316 with POAG. Pairwise LD analysis showed high LD between rs769217 and rs7943316 (D’ = 0.857, r² = 0.252, confidence bounds 0.71–0.93). After the association analysis for haplotype block structure generated from rs769217 with rs7943316, the data showed no significant association between the cases and controls.

Conclusions: This study showed that CAT functional SNP rs769217 was significantly associated with POAG, implying that the CAT gene variants may play a role in the pathogenesis of POAG in the Chinese population.     

Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma

Abstract

Purpose: To investigate whether the g.4760C?>?T mutation in the catalase gene (CAT) is a risk factor for primary open angle glaucoma (POAG) in the Saudi population.

Methods: A cohort of 225 unrelated POAG patients and 403 unrelated control subjects from Saudi Arabia were genotyped for a single nucleotide polymorphism (SNP; rs1001179; g.4760C?>?T) in the CAT gene utilizing Taq-Man® assay. The association between mutant genotypes and various clinical indices important for POAG was also investigated.

Results: The distribution of different genotypes was comparable between both study groups. The genotype “C/C” was predominant among cases; 169 (75.1%) as well as among the controls; 289 (71.7%). As for the heterozygous mutated genotype “C/T”, it was present in 52 (23.1%) of cases and 103 (25.6%) of controls, where the homozygous fully mutated genotype was present in only 4 (1.8%) of cases and 11 (2.7%) of the controls. The distribution of mutant allele was similar in both study groups (p?=?0.218). Interestingly, there was a trend of association between the type of the mutation (homozygous versus heterozygous) and three clinical parameters important for predicting the severity of the disease. These parameters include mean age of onset, mean level of intraocular pressure (IOP) and mean months of duration of encountering glaucoma.

Conclusions: There were no statistically significant differences between cases and controls in terms of the different genotype distribution. This mutation is possibly associated with various clinical indices important for POAG and thus may be used as a parameter for assessing POAG severity, at least in this population.     

Elastin rs2301995 Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy in Caucasians

Purpose: To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients.

Methods: Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls.

Results: The ELN rs2301995 SNP was not statistically significantly associated with the PCV phenotype (P?=?0.9). The frequency of the minor allele of the rs2301995 SNP was practically identical in the PCV, AMD and control groups (6.3% vs. 5.4% vs. 7.1%).

Conclusion: The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.     

Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration

Background: To elucidate the potential role of single nucleotide polymorphisms (SNPs) in the metallothionein (MT) genes in Northern Spanish patients with age-related macular degeneration (AMD).

Methods: A total of 130 unrelated Northern Spanish natives diagnosed with AMD (46 dry, 35 neovascular, and 49 mixed) and 96 healthy controls, matched by age and ethnicity, were enrolled in a case–control study. DNA was isolated from peripheral blood and genotyped for 14 SNPs located at 5 MT genes (MT1A: rs11076161, rs 11640851, rs8052394, and rs7196890; MT1B: rs8052334, rs964372, and rs7191779; MT1M: rs2270836 and rs9936741; MT2A: rs28366003, rs1610216, rs10636, and rs1580833; MT3: rs45570941) using TaqMan probes. The association study was performed using the HaploView 4.0 software.

Results: The allelic and genotypic frequencies analysis revealed that rs28366003 at MT2A gene is significantly associated with dry AMD. The frequency of genotype AG was significantly higher in dry AMD than in control cases (p = 2.65 × 10^?4; AG vs. AA) conferring more than ninefold increased risk to dry AMD (OR = 9.39, 95% CI: 2.11–41.72), whereas the genotype AA confers disease protection (OR = 0.82, 95% CI: 0.71–0.95). No statistically significant differences were observed between AMD subjects and controls in the rest of the 14 SNPs analyzed.

Conclusions: The present study is the first to investigate the potential association of SNPs at MT genes with susceptibility to AMD. We found a significant association of SNP rs28366003 at MT2A gene with susceptibility to the dry form of AMD in a Northern Spanish population.     

Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population

Background: Keratoconus (KC) is a complex degenerative disorder of the cornea. Genetic, environmental, and lifestyle factors may all contribute to the pathogenesis of KC. Most of the reported KC-associated SNPs have been detected in Caucasians and Australians. To investigate whether the reported associated SNPs can be found in a Chinese population, we performed a replication study of the significantly associated SNPs.

Materials and Methods: A total of 210 unrelated Chinese KC patients and 191 unrelated controls were included in the present study. SNPs rs4954218 (Near RAB3GAP1 (5′)), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5′)), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3′)), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. The genotype of each SNP was detected using the Sequenom MassARRAY-Assay.

Results: SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR?=?3.108, 95% CI?=?1.366–7.072, p?=?0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR?=?0.664, 95% CI?=?0.447–0.986, p?=?0.042). No significant difference was observed between patients and controls in the other eight SNP genotypes and allele frequencies.

Conclusions: The replication association of rs1324183 (MPDZ-NF1B) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 (MPDZ-NF1B) is a common genetic risk for KC and should be further investigated.     

Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population

Purpose: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG).

Materials and methods: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing.

Results: The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p?=?3.36?×?10^?5, OR?=?5.71, 95% CI: 2.30–14.18; p?=?3.38?×?10^?5, OR?=?6.91, 95% CI: 2.51–19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p?=?2.50?×?10^?4, OR?=?2.18, 95% CI: 1.43–3.33; p?=?1.21?×?10^?2, OR?=?2.13, 95% CI: 1.75–3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG.

Conclusions: This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS.     

Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population

Background: Genetic factors have been studied extensively for their role in the pathogenesis of primary open angle glaucoma (POAG). This study was conducted to investigate whether manganese superoxide dismutase (SOD2) variants play a significant role in POAG in a Chinese population.

Methods: This study included of 416 unrelated POAG patients and 997 unrelated control subjects. Four SOD2 tag single nucleotide polymorphisms (SNPs), including rs6917589 rs2842980, rs5746136 and rs4880, were genotyped by dye terminator-based SNaPshot method. The genotype and allele frequencies were evaluated using the χ² tests.

Results: Allelic association analysis showed that there were suggestive differences in the allelic distributions between POAG cases and controls for SNPs rs6917589 and rs5746136 (p?=?0.0.046 and p?=?0.032, respectively), but no statistically significant association was detected between the two SNPs and POAG after Bonferroni correction (p?>?0.0125). The allele and genotype frequency in SNPs rs2842980 and rs4880 showed no statistically significant difference between POAG cases and controls (p?=?0.128 and p?=?0.867, respectively). SNP rs5746136 had a significant association with POAG in the recessive model (p?=?0.003155). Haplotype ATGT generated from the four SNPs showed a trend of association with POAG (p?=?0.0098).

Conclusion: Our results showed a trend of association with POAG, suggesting that SOD2 may play a significant role in the development of POAG in the Chinese population. Further work with a larger sample size and functional study is needed to confirm the importance of the SOD2 gene in the pathogenesis of glaucoma.