Association of uromodulin gene polymorphism with diabetic kidney disease in Han population in Tianjin of China

Objective To investigate the association of single nucleotide polymorphism (SNP) rs13333226 in uromodulin (UMOD) gene with diabetic kidney diseases (DKD) in Han population in Tianjin, China. Methods A total of 210 type 2 diabetes (T2DM), 90 normal controls (NC) and 280 DKD patients were recruited. According to the level of estimated glomerular filtration rate (eGFR), the DKD subjects were further subdivided into three groups: GFR≥90 ml/min group (n=105), 60 ml/mim≤GFR＜90 ml/min group (n=84) and GFR＜60 ml/min group (n=91). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for UMOD rs13333226C genotyping. Results The frequencies of AA, GA, GG genotype were 27.8%, 58.9%, 13.3% in NC group and 41.0%, 48.6%, 10.5% in T2DM group and 54.3%, 36.1%, 9.6% in DKD group．The frequency of G allele was 42.8% in NC group, 34.8% in T2DM group and 27.7% in DKD group. The genotype distribution of UMOD was statistically significant between NC group and DKD group, and between T2DM group and DKD group (P＜0.05). G allele of UMOD was an independent protective gene polymorphism of DKD in Logistic regression (B=-0.248, Wald=8.012, P=0.021, OR=0.780, 95%CI 0.612-0.968). Conclusion The G allele of UMOD gene may be an independent protective factor of DKD in Han population in Tianjin, China.     

霉酚酸酯药代动力学与多重耐药基因1多态性的相关性研究

目的 研究肾移植受者术后早期霉酚酸酯(MMF)的药代动力学与人类多重耐药基因1(MDRI)多态性的相关性.方法 选择初次肾移植的汉族受者28例,肾移植术后2周时,于口服MMF之前及服药后0.5、1、1.5、2、4、6、8、10、12 h共10个时间点分别采集外周血,以高效液相色谱(HPLC)法测定全血霉酚酸酯(MMF)的活性成分霉酚酸(MPA)的浓度,直接观察其峰值浓度(Cmax)和达峰时间(Tmax).应用Winnolin 3.1软件计算MPA 0～12 h药物时间一浓度曲线下面积(AUC)和平均滞留时间(MRT).同时从外周血提取基因组DNA,应用多聚酶链反应-限制性片断长度多态性(PCR-RFLP)测定MDR1第12、21、26号外显子C1236 T、G2677 T/A、C3435 T单核苷酸多态性(SNP).比较3个SNP位点的不同基因型、单倍型间MMF药代动力学参数的差异;比较MPA高暴露组(MPA AUC≥60 mg·h-1·L-1)与MPA低暴露组(MPA AUC＜60 mg·h-1·L-1)间MDR1多态性差异.结果 MDR1第12、21、26号外显子SNP位点突变型纯合子基因型(1236 TT、2677 TT/AA、3435 TT)频率分别为0.368、0.184和0.211.1236 TT基因型受者MPA AUC水平显著高于1236 cc/CT受者,分别为(65.36±11.51)mg·h-1·L-1和(53.33±13.77)mg·h-1·L-1(P=0.032).MPA高暴露组第12号外显子SNP位点上,TT基因型频率显著高于低暴露组,分别为66.7%和15.8%(P=0.013,OR=2.526);T等位基因频率有高于低暴露组的趋势,分别为83.3%和53.3%(P=0.072).结论 具有MDR1第12号外显子TT等位基因的受者,肾移植早期MPA AUC显著高于同一位点其他基因型受者,是MPA高暴露的危险个体.     

Caspase-9(-1263A/G)多态性与中国汉族男性士兵下腰痛的相关性研究

目的 探索凋亡相关基因Caspase-9(-1263A/G)多态性与中国汉族男性士兵的训练性下腰痛及疼痛程度的相关性。方法 于某步兵团和某装甲团分别选取247名和245名中国男性汉族士兵,按诊断标准分为下腰痛组和对照组,对下腰痛组患者进行疼痛视觉模拟量表(visual analogue scale,VAS)评分。抽取全部研究对象的外周静脉血,提取白细胞DNA,聚合酶链式反应(polymerase chain reaction, PCR)扩增,DNA测序仪检测Caspase-9(-1263A/G)位点的基因型,分析该位点与训练性下腰痛是否存在相关性。结果 在步兵群体中,下腰痛组AA基因型的分布频率明显低于对照组,而GG基因型的分布频率要高于对照组,组间差异均具有统计学意义(P< 0.01);在装甲兵群体中,AA基因型在下腰痛组中的分布频率同样低于对照组,GG基因型高于对照组,组间差异均具有统计学意义(P< 0.01)。Caspase-9(-1263A/G)位点与下腰痛士兵VAS评分的相关性分析表明,携带GG基因型的装甲兵患者的VAS评分更高,差异具有统计学意义(P< 0.05),下腰痛更为严重,但在步兵群体中不存在这种相关性,差异无统计学意义(P >0.05)。结论 Caspase-9(-1263A/G)多态性与中国汉族步兵和装甲兵的训练性下腰痛相关,并且与装甲兵下腰痛患者的严重程度存在相关性。     

肌球蛋白重链9基因单核苷酸多态性与内蒙古自治区汉族IgA肾病临床、病理及预后的关系

目的 探讨肌球蛋白重链(MYH)9基因单核苷酸多态性与内蒙古自治区汉族IgA肾病患者临床特征、病理及预后的关系.方法 以经肾组织活检确诊的IgA肾病患者148例为研究对象,对其中56例患者进行了1～97月的随访.取外周血提取DNA,采用PCR限制性片段长度多态性分析(RFLP)法检测MYH9基因Rs3752462、Rs4821480位点单核苷酸多态性.研究各位点基因型与IgA肾病患者临床特征的相关性.分析不同基因型与疾病进展和预后的关系.结果 (1)Rs3752462位点符合Hardy-Weinberg平衡,Rs4821480位点不符合Hardy-Weinberg平衡.(2)IgA肾病患者MYH9基因Rs3752462位点TT基因型患者的收缩压低于CC+CT基因型(P＜0.05).Rs4821480位点GG基因型与TT+GT基因型两组患者收缩压、舒张压、年龄差异有统计学意义(P＜0.05).Scr、肌酐清除率、血白蛋白、血红蛋白、镜下血尿、蛋白尿程度等临床指标及病理HASS分级、肾病理改变在Rs4821480位点、Rs3752462位点3种基因型组间差异无统计学意义.(3) Kaplan-Meier生存分析提示Rs3752462位点CC基因型、Rs4821480位点TT基因型患者肾活检到肾功能减退时间显著较短(P＜0.05).结论 MYH9基因Rs3752462位点C等位基因是引起IgA肾病患者高血压损害的独立危险因素.MYH9基因Rs4821480位点3种基因型多态性与患者预后相关.携带Rs3752462位点C等位基因、Rs4821480位点T等位基因可能影响患者的预后.     

ACE I/D gene polymorphism predicts renal damage in congenital uropathies

We investigated angiotensin converting enzyme gene (ACE I/D) polymorphism as a risk for progressive renal damage in congenital uropathies. The ACE I/D genotype was determined in 196 Caucasian patients with congenital uropathies and 163 individuals with no clinical or sonographic evidence of any urological malformations. The study group included patients with ureteropelvic junction obstruction (n=49), primary obstructive megaureter (n=19), primary vesicoureteral reflux (VUR) (n=67), and posterior urethral valves (n=27). Thirty-four patients were excluded because of additional diseases or insufficient follow-up. There was no difference in the ACE I/D distribution between children with uropathies and normal controls (II 16%, ID 56%, DD 28% vs. II 26%, ID 50%, DD 24%). Renal lesions were found in 99 of 162 children by ultrasonography, intravenous pyelography, and nuclear scans. In these children there was significant over-representation of the DD genotype (II 11%, ID 53%, DD 36%) compared with normals (P<0.005, X²=14.9) or with patients with uropathies but no renal lesions (II 23%, ID 62%, DD 15%, P<0.005, X²=14.9). Because ACE I/D has been linked with progressive deterioration of renal function, we evaluated a subset of patients with initially normal kidneys who developed radiographic renal lesions (n=28). Among these patients there was an even greater over-representation of the DD genotype (II 0%, ID 43%, DD 57%, P<0.001, X²=22.6) compared with patients with uropathies but no radiographic lesions. Multivariate analysis revealed that the DD genotype is a risk factor for parenchymal destruction, which was independent of time of diagnosis, surgical intervention, or urinary tract infection. This finding was particularly relevant in patients with VUR who constituted the majority with initially normal kidneys who developed radiographic damage (22/28). Indeed, the odds ratio of developing parenchymal damage with VUR was significantly increased if the individual had the DD genotype (4.2, 95% confidence interval 1.4–13.0). In conclusion the ACE I/D gene polymorphism is a risk factor for renal parenchymal damage in patients with congenital urological abnormalities and appears particularly relevant in children with VUR, where it is an independent predisposing factor. Received: 3 November 1998 / Revised: 3 March 1999 / Accepted: 3 March 1999     

MDM4基因rs1563828与乳腺癌发病风险及发病年龄的相关性研究

目的 探讨murine double minute 4(MDM4)基因的单核苷酸多态性rs1563828(C＞T)在早发性乳腺癌人群中的分布、与乳腺癌发病风险的关联性及其与发病年龄的潜在关系.方法 本研究为病例-对照研究.采用飞行时间质谱分析法对124例早发性乳腺癌患者(发病年龄≤35岁)和101名健康对照者进行MDM4基因rs1563828(C＞T)基因型鉴定.采用x2检验比较基因型分布和发病风险的关系,应用非条件Logistic回归分析计算危险度,两组发病年龄比较采用t检验.结果 对照组MDM4基因rs1563828基因型的分布频率为CC 43.6％ (44/101)、CT 42.6％ (43/101)、TT13.9％(14/101),病例组则依次为42.7％(53/124)、46.0％(57/124)、11.3％(14/124);两组差异无统计学意义(x2=0.449,P=0.799).Logistic回归分析表明,在早发性乳腺癌人群中,以rs1563828的CC野生基因型为参照,含T基因型(CT,TT)并未改变乳腺癌的发病危险(OR=1.024,95％ CI:0.581～1.806,P=0.934).在乳腺癌人群中,TT基因型携带者的发病年龄低于CT/CC基因型携带者[(30±4)岁比(32±3)岁,P=0.028].结论 MDM4基因rs1563828(C＞T)多态性可能与早发性乳腺癌人群的遗传易感性关联微弱,尚需进一步明确;其TT基因型可能是发病年龄提前的危险因素.     

过氧化物酶体增殖物激活受体γC161T基因多态性与糖皮质激素性骨质疏松症的关系

目的 探讨中国人过氧化物酶体增殖物激活受体γ(PPARγ)基因外显子6 C161T多态性与糖皮质激素性骨质疏松症(GIO)的相关关系。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法测定208例正常健康人（Ⅰ组）、168例非GIO患者（Ⅱ组）和104例GIO患者（Ⅲ组）PPARγ基因外显子6 C161T的基因型。应用双能X线骨密度仪(DEXA)测定股骨、腰椎等部位的骨密度。 结果 外显子6 C161T有CC、CT、TT 3种基因型。GIO组CC基因型频率显著低于正常对照组；CT和TT基因型频率显著高于正常对照组。非GIO组、应用激素组（GIO组＋非GIO组）与正常对照组比较，各基因型频率差异均无统计学意义。正常对照组C161T的CC基因型组各部位的骨密度有高于CT和TT基因型组的趋势，但差异无统计学意义。非GIO组和GIO组C161T的CC基因型组腰椎的骨密度明显高于CT和TT基因型组 (P ＜ 0.05)，分别为非GIO组CC型（1.04±0.17） g/cm2，CT+TT型（1.02±0.07） g/cm2；GIO组CC型（0.94±0.12） g/cm2，CT+TT型（0.83±0.08） g/cm2。经年龄、体重指数等因素校正后，差异仍有统计学意义(P ＜ 0.05）。 结论 PPARγ基因C161T基因型在正常人和应用激素患者之间无明显差异，它可能与肾小球肾炎的发病无关。C161T基因型在GIO组和正常对照组之间差异有统计学意义，它可能与糖皮质激素性骨质疏松症的发病有关。PPARγ基因C161T多态性与应用糖皮质激素患者腰椎的骨密度有关。等位基因C可能是骨量的保护因子，它可能与应用糖皮质激素后骨量的丢失有关。     

血管内皮生长因子936C／T基因多态性与结直肠腺瘤易感性的关系

目的探讨血管内皮生长因子（VEGF）1498C／T、936C／T基因多态性与结直肠腺瘤易感性的关系。方法对224份结直肠腺瘤及200份正常对照标本进行研究．应用TaqMa。探针法检测VEGF1498C／T、936C／T基因型,搜集相对应的临床病理资料。结果与VEGF936CC基因型相比．CT基因型和CT＋TT基因型患者结直肠腺瘤的发生危险显著增加（DR=2．00,95％CI：1．23—3．25,P=0．006;OR=2．04,95％C1：1．28—3．26,P=0．003）;与VEGF936-C等位基因相比,T等位基因携带者结直肠腺瘤的发生危险亦显著增加（DR=1．91,95％CI：1．25—2．91．P=0．003）。结直肠腺瘤患者为VEGF936CT＋TT基因型或携带T等位基因,其病理类型倾向于绒毛状腺瘤（OR=2．54,95％CI：1．12—5．75,P：0．040;OR=3．08,95％CI：1．64-5．80,P=0．001）。VEGF1498C／T基因多态性在腺瘤组与对照组间的差异无统计学意义（19〉0．05）。结论VEGF936C／T基凶多态性与结直肠腺瘤易感性密切相关。     

诱导型一氧化氮合酶和髓过氧化物酶基因多态性与肝炎后肝硬化合并肝肺综合征的相关性研究

目的探讨诱导型一氧化氮合酶（iNOS）和髓过氧化物酶（MPO）表达的基因多态性与肝炎后肝硬化肝肺综合征（HPS）易感性的关系。方法以63例肝炎后肝硬化HPS患者为病例组,182例非HPS患者为病例对照组,检测两组患者腹水沉渣包埋细胞块中iNOS和MPO的表达;以35例无肝病者为正常对照组,应用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）技术检测3组中iNOS Ser608Leu和MPO463位点的多态性。结果病例组中有杵状指41例（65.1%）,蜘蛛痣49例（77.8%）,食管静脉曲张（EV）51例（81.0%）,腹水细胞块中MPO和iNOS表达阳性率和高表达率分别为100%,92.7%vs97.6%,75.6%;100%,71.4%vs100%,75.6%;98.0%,68.7%vs100%,75.6%。iNOS608核苷酸位点CC、CT和TT基因型在病例组和病例对照组的分布频率分别为81.0%、19.0%、0%和57.1%、40.0%、2.9%（P〈0.05）;MPO463核苷酸位点GG、GA和AA基因型在两组间的分布频率分别为76.2%、22.2%、1.6%和51.4%、42.9%、5.7%（P〈0.05）。iNOS608和MPO463核苷酸位点多态性与HPS患病遗传易感性间有相互促进作用,同质性检验不同层间存在显著差异（P〈0.01）。结论 iNOS和MPO表达与HPS临床表现具有一定的相关性,iN-OS基因608位点16外显子C→T突变可能是抵抗HPS发生和发展的因素,与MPO463G/A位点基因多态性在HPS发病的遗传易感因素中起协同作用。     

Analysis of endothelial nitric oxide synthase (eNOS) G894T polymorphism and semen parameters in a Chinese Han population

Previous studies have shown that endothelial nitric oxide synthase (eNOS) gene may be involved in abnormal semen parameters. However, the relationship between eNOS G894T polymorphism and semen parameters remains controversial. The purpose of this study was to investigate the association of eNOS G894T polymorphism and semen parameters. The genotype frequency of eNOS G894T was determined in 270 idiopathic asthenozoospermia patients and 248 ethnically matched healthy volunteers using iPLEX genotyping assays on a MassARRAY^® (Sequenom, San Diego, CA, USA) platform. The statistical analysis performed with Fisher's exact test showed no significant difference in frequencies of genotypes between both groups. The logistic regression showed that genotypes GT, TT and allele T were nonassociated with increased risk of asthenozoospermia in the patient group with ≤5% or >5% sperm with normal forms. The dependence on genotypes of semen parameters was further investigated in both patients and control group. There was no significant difference as compared to control group (P > 0.05). Our study indicated that eNOS gene G894T polymorphism may not have an adverse effect on semen parameters in a Chinese Han population.     

血清胱抑素C对肝硬化病人肾功能损害的早期诊断价值研究

目的 探讨血清半胱氨酸蛋白酶抑制剂C(Cys C)检测对肝硬化病人肾功能损害早期诊断的意义.方法 测定76例肝硬化病人24 h肌酐清除率(Ccr)以及血清肌酐(SCr)和血清Cys C水平.以CCr＜80 ml/min/1.73 m2作为肾功能损害诊断标准,采用t检验、相关性分析和ROC曲线分析探讨Cys C的诊断价值.结果 在Child分级肝损害病人的肾功能评估能力比较中,Cys C能灵敏反映CCr变化,而Scr的反映能力明显低于Cys C.SCr与CCr有着显著的负相关性(CysC:r=-0.763,P＜0.001;SCr:r=-0.571,P＜0.01),而Cys C的相关系数较高.ROC曲线分析显示Cys C的曲线下面积(AUC)值明显高于SCr(0.830比0.612).结论 与SCr比较,Cys C能更准确地早期发现肝硬化病人的肾功能损害,常规监测肝硬化病人Cys C水平,对预防肝肾综合征的发生具有积极意义.     

醛固酮瘤CYP11B2基因C-344T位点单核苷酸多态性与其发病关系

目的探讨醛固酮瘤CYP11B2基因启动子区C-344T位点单核苷酸多态性与醛固酮瘤患者发病之间的关系。方法应用RT-PCR检测醛固酮瘤（醛固酮瘤肿瘤组织标本34例,醛固酮瘤肿瘤病理切片标本44例）和正常肾上腺组织（13例）中SF-1基因的mRNA表达水平,PCR-RFLP技术检测醛固酮瘤CYP11B2基因C-344T位点基因型。结果在醛固酮瘤中SF-1基因的表达与正常肾上腺组织的无明显差别（P=0.919）,醛固酮瘤病例中CYP11B2基因启动子区C-344T位点C等位点频率明显高于正常人,差异有统计学意义（χ2=6.876,P=0.009）。结论醛固酮瘤CYP11B2基因启动区C-344T位点中C等位点与类固醇合成因子结合率高于T等位点,C等位点与醛固酮瘤患者高醛固酮血症有关。     

高血压患者TLR4和胱抑素C的水平变化及作用

目的 探讨高血压患者外周血Toll受体4（Toll-like receptor 4,TLR4）、血清胱抑素C（Cystatin C,Cys-C）的表达水平及其作用和意义.方法 用流式细胞仪检测单纯高血压、高血压肾损害组患者及对照组外周血中单核细胞、中性粒细胞和淋巴细胞的TLR4表达率,并分析血清Cys-C、尿素氮（BUN）、血肌酐（SCr）、24 h尿蛋白等各项生化指标,比较各组间各项指标和水平的差异性及相关性.结果 高血压肾损害组的单核细胞及中性粒细胞表面TLR4表达率高于单纯高血压组[（54.71±10.57）]比（34.26±5.37）]（P〈0.01）,[（25.89±13.76）比（19.23±12.49）]（P〈0.05）;单纯高血压组单核细胞及中性粒细胞表面TLR4表达率高于对照组[（34.26±5.37）比（26.39±8.31）]（P〈0.01）;[（19.23±12.49）比（7.67±7.43）]（P〈0.01）,差异有统计学意义;3组淋巴细胞TLR4几乎无表达,无统计学差异（P〉0.05）.高血压肾损害组血清Cys-C均高于单纯高血压组（P〈0.01）,单纯高血压组显著高于对照组.单核细胞和中性粒细胞TLR4在高血压肾损害组的表达与Cys-C、SCr及24 h尿蛋白的值呈明显正相关;单纯高血压组单核细胞和中性粒细胞TLR4与Cys-C呈明显正相关,二者均与24 h尿蛋白和SCr无明显相关性（P〉0.05）.结论 TLR4在高血压和高血压肾损害患者的单核细胞和中性粒细胞中表达增高,同时Cys-C量升高,提示TLR4、Cys-C可能参与高血压的病理生理机制,介导高血压及靶器官损害.     

肾性与原发性高血压患者左心室肥厚及功能变化的比较研究

目的比较肾性高血压患者和原发性高血压患者左心室肥厚及功能的变化。方法采用超声心动图检查30例肾性高血压患者及20例年龄、性别、血压相匹配的肾功能正常的原发性高血压患者,观察左心室肥厚及重量指数（LVMI）、左心室射血分数（EF）及左心室等容舒张时间（IVRT）和E／A比值。结果30例肾性高血压患者左室肥厚发生率、LVMI、IVRT高于原发性高血压患者,E／A比值低于原发性高血压患者,EF值无显著差异,肾性高血压患者存在明显的钙磷代谢紊乱、继发性甲状旁腺功能亢进症和贫血,其LVMI与血红蛋白呈显著负相关,而与血清全段甲状旁腺激素（iPTH）呈显著正相关。结论肾性高血压患者左心室肥厚程度及左心室舒张功能障碍较原发性高血压患者严重,除高血压外,贫血及继发性甲状旁腺功能亢进亦应受到重视。     

Association between ADAMTS‐4 gene polymorphism and lumbar disc degeneration in Chinese Han population

Low back pain (LBP) is a common health problem and many LBP are caused by lumbar disc degeneration (LDD). ADAMTS‐4 (a disintegrin and metalloprotease with thrombospondin motifs‐4), also known as aggrecanse‐1, plays a core role in degeneration of extracellular matrix in LDD. To investigate the association between ADAMTS‐4 genetic polymorphism and LDD, we genotyped SNPs in and around ADAMTS‐4. We recruited 482 sporadic cases of LDD and 496 healthy controls from Chinese Han population. Five SNPs were selected and phenotyped by the Sequenom MassARRAY system. Allelic, genotypic, and haplotypic association was performed. Rs4233367 (c.1877 C>T), which located in exon of ADAMTS‐4 showed significant association with LDD. The T allele conferred a lower risk of LDD with an OR of 0.69 and TT genotype is at nearly one‐fifth of the risk compared to CC genotype. Other tested SNPs didn't show significant difference between the case and control groups. The SNP rs4233367 in the exon of ADAMTS‐4 gene may be associated with lumbar disc degeneration. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:860–864, 2016.     

MicroRNA-34b/c rs4938723 T>C多态性与中国汉族人群肾细胞癌易感性的相关性

目的研究中国汉族人群microRNA-34b/c启动子区TC(rs4938723)多态性与肾细胞癌易感性之间的关系。方法采用病例对照研究模式,通过TaqMan探针PCR法检测年龄和性别匹配的710例中国汉族人群肾细胞癌患者和760例正常人群的microRNA-34b/c启动子区TC(rs4938723)基因型,探讨该位点基因多态性与肾细胞癌易感性之间的关系。结果与TT/TC基因型携带者相比,CC型(OR=1.53,95%CI=1.06~2.21,CC基因型比TT基因型;OR=1.48,95%CI=1.05~2.10,CC基因型比TT/TC基因型)携带者发生肾细胞癌的危险性明显升高。分层分析显示携带CC基因型的老年患者(OR=1.80,95%CI=1.08~3.01)、男性患者(OR=1.64,95%CI=1.08~2.51)、吸烟患者(OR=2.07,95%CI=1.16~3.69)及饮酒患者(OR=1.94,95%CI=1.01~3.73)发生肾细胞癌的危险性明显升高。结论 microRNA-34b/c启动子区TC(rs4938723)基因多态性与我国汉族人群肾细胞癌易感性有关,CC型携带者发生肾细胞癌的危险性要明显高于TT/TC型携带者。     

补体C1q基因调节区多态性与武汉地区人群狼疮肾炎易感性的关系

目的 探讨C1q基因调节区多态性与武汉地区人群狼疮肾炎（LN）易感性的关系。 方法 采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）方法检测30例LN患者、20例非LN肾病患者和10例健康对照者中C1q基因调节区Aexon2、Bexon1、Bexon2、Cexon2的多态性,对发现突变位点的序列进行直接测序。利用χ2检验探讨其与LN易感的关系。 结果 LN患者和非LN肾病患者的C1q基因调节区未发现国外已报道的C1q基因调节区突变位点,即C1qAexon2的C→T、C1qBexon1的G→A、C1qBexon2的G→A、C1qCexon2的C缺失。结论 未发现C1q基因调节区多态性位点与武汉地区人群LN易感性有关,但不排除样本量较少对结果的影响。     

The (−1486T/C) promoter polymorphism of the TLR‐9 gene is associated with end‐stage knee osteoarthritis in a Chinese population

Based on the recent observation that Toll‐like receptors (TLRs) may be involved in the pathogenesis of osteoarthritis (OA) we explored the possibility that human TLR gene polymorphisms are associated with OA. Two separate populations were studied in a two‐stage case–control study with a total of 503 OA patients and 428 healthy controls. The TLR‐2, TLR‐4, and TLR‐9 genotypes were assessed by real‐time polymerase chain reaction. Our data demonstrated a lack of association among TLR‐2, TLR‐4, and TLR‐9 (T‐1237C) polymorphisms and the risk of developing OA in both stages of the study. T‐1486C was significantly associated with OA in both populations with G1635A of TLR‐9 gene was found to be significantly associated with OA when the two populations were combined. Stratifying the samples by K‐L score there were significant differences in the genotype of the TLR‐9 T‐1486C and G1635A between OA of the knee grade 4 and controls. In haplotype analyses, the haplotype TTG and TTA revealed higher risk of OA and TCA confers a lower risk of OA in combined population. The present results demonstrate that TLR‐9 polymorphisms, in particular T‐1486C is significantly associated with OA. TLR‐9 gene polymorphisms may play a role in the etiology of knee OA. © 2011 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 30:9–14, 2012     

Hypoxia and renal cell carcinoma: The influence of HIF1A+1772C/T functional genetic polymorphism on prognosis

Objectives

Hypoxia-inducible factor (HIF-1) is a key regulator of the genes involved in the cellular response to hypoxia. Overexpression of HIF-1 has been implicated in the pathogenesis of renal cell carcinoma (RCC), and functional polymorphisms of the HIF1A gene may confer susceptibility to RCC. Our purpose was to assess the influence of HIF1A+1772C/T (rs11549465) polymorphism on RCC prognosis.