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目的研究NADPH氧化酶p22phox亚基基因多态性与中国上海汉族人群2型糖尿病肾病(DN)相关性。方法应用限制性片断长度多态性(RFLP)-PCR方法对105例健康对照组和194例2型糖尿病(DM)患者(其中71例DN)进行p22phox亚基C242T、A640G基因型检测。同时检测其身高、体重、血压、血脂、空腹血糖及胰岛素、HbAlc的水平。结果DN组CT+TT基因型频率明显高于2型DM和对照组(26.76%比17.07%、3.81%,P=0.0002);DN组T等位基因频率明显高于2型DM和对照组(22.54%比13.42%、2.86%,P=0.0001);3组间AA基因型频率与A等位基因频率差异无统计学意义。多元回归分析显示,T242等位基因、收缩压、空腹血糖、HbAlc、β细胞功能指数(Homa-IS)是DN的危险因素。结论p22phox亚基T242等位基因变异可能是中国上海地区汉族人群DN的易感基因:而p22phox亚基A640G基因多态性与上述人群DN无相关性。T242等位基因、收缩压、空腹血糖、HbAlc、Homa-IS是DN的危险因素。 相似文献
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Ⅱ型糖尿病肾病患者β3—肾上腺素能受体基因多态性研究 总被引:5,自引:0,他引:5
目的:探讨β3-肾上腺素能受体(β2-AR)基因64位点的色氨酸(Trp)密码子被精氨酸(Arg)置换与糖尿病肾病(DN)之间的关系。方法;采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)技术,研究了196例Ⅱ型糖尿病患者β3-AR基因Trp64Arg突变基因型,并测体重指数(BMI)、血压、尿微量白蛋白排泄率(UAER)、空腹血脂、血糖、糖化血红蛋白A1c(HbA1c)、腹及餐后2hC肽。结果:⑴中国上海地区Ⅱ型糖尿病患者Arg64等位基因频率为0.13,低于印第安人(P<0.001)和日本人(P<0.01),略高于芬兰人(P>0.05)。⑵糖尿病患者中,Arg64携带者组BMI、血甘油三酯水平明显高于非携带者组(P<0.05),而发病年龄、确诊糖尿病时年龄、病程、血压、空腹血糖、HbA1c、空腹及餐后2hC肽、总胆固醇、高密度脂蛋白及低密度脂蛋白水平,两组无明显差别。⑶DN组Arg64等位基因频率为0.18,明显高于非DN组(P<0.01),且与DN分期无关。结论:中国上海地区Ⅱ型糖尿病患者β3-AR基因Trp64Arg突变与体内脂肪分布及脂代谢紊乱有关;Arg64等位基因可能是DN的一个风险基因。 相似文献
3.
Ⅱ型糖尿病肾病患者β_3-肾上腺素能受体基因多态性研究 总被引:1,自引:0,他引:1
目的 探讨β3-肾上腺素能受体(β3-AR)基因64位点的色氨酸(Trp)密码子被精氨酸(Arg)置换与糖尿病肾病(DN)之间的关系。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)技术,研究了196例Ⅱ型糖尿病患者β3-AR基因Trp64Arg突变基因型,并测体重指数(BMI)、血压、尿微量白蛋白排泄率(UAER)、空腹血脂、血糖、糖化血红蛋白A1c(HbA1c)、空腹及餐后2hC肽。结果(1)中国上海地区Ⅱ型糖尿病患者Arg64等位基因频率为0.13,低于印第安人(P<0.001)和日本人(P<0.01),略高于芬兰人(P>0.05)。(2)糖尿病患者中,Arg64携带者组BMI、血甘油三酯水平明显高于非携带者组(P<0.05),而发病年龄、确诊糖尿病时年龄、病程、血压、空腹血糖、HbA1c、空腹及餐后2hC肽、总胆固醇、高密度脂蛋白及低密度脂蛋白水平,两组无明显差别。(3)DN组Arg64等位基因频率为0.18,明显高于非DN组(P<0.01),且与DN分期无关。结论 中国上海地区Ⅱ型糖尿病患者β3-AR基因Trg64Arg突变与体内脂肪分布及脂代谢紊乱有关;Arg64等位基因可能是DN的 相似文献
4.
目的:明确血管紧张素I转换酶(ACE)基因插入/缺失(I/D)多态性与2型尿病及其肾病发生及进展的关系。方法:ACE基因内含子16的一个287bp的Alu顺序I/D型为多态标志,用聚合酶链反应(PCR)扩增基因片段,1%琼脂糖凝胶电泳检测PCR产物。结果:(1)221例2例糖尿病与100例正常对照组之间基因型分布无显著性差异;(2)2型糖尿病未合并肾病与合并肾病及肾功不全(RF)等各亚组之间基因型频率和等位基因频率无显著性差异。结论:ACEI/D多态性与2型糖尿病肾病和肾功能不全的发生无关。 相似文献
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载脂蛋白E(apolipoprotein E,ApoE)是组成脂蛋白的重要成分,为乳糜颗粒、VLDL、IDL和部分HDL的结构蛋白,作为配体与LDL受体和ApoE受体结合,是胆固醇和脂蛋白代谢的关键调节蛋白之一,其基因多态性是决定血脂水平的重要因素,不仅与动脉粥样硬化、阿尔茨海默病等疾病发生、发展相关,也与终末期肾病(end-stage renal disease,ESRD)密切相关,本文拟对ApoE基因多态性与ESRD相互关系的研究进展做如下综述. 相似文献
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2型糖尿病肾病与ApoE基因多态性的关系 总被引:6,自引:0,他引:6
随着糖尿病发病率的逐年上升及糖尿病患者寿命的延长,糖尿病肾病已成为糖尿病患者致死或致残的主要原因之一。因此,对糖尿病肾病的易感因素尤其是遗传易感性的研究变得尤为重要。我们采用PCR基因扩增技术探讨中国人ApoE基因多态性与2型糖尿病肾病的关系。一、材料和方法1.对象:非糖尿病对照组(ND),共82例。2型糖尿病组84例,可分为糖尿病肾病组(DN)56例和糖尿病非肾病组(NDN)28例。DN组又分为:(1)蛋白尿肾病亚组(DNⅠ)26例:2次测尿白蛋白排泄率≥20μg/min,或尿蛋白≥300mg/24h;(2)肾功能不全亚组(DNⅡ)30例:蛋白尿伴2次Scr≥110μmo… 相似文献
7.
血管内皮生长因子基因多态性与糖尿病肾病的相关性研究 总被引:1,自引:0,他引:1
目的 探讨血管内皮生长因子(VEGF)-634G/C基因多态性与糖尿病肾病(DN)的关系。方法 运用PCR-限制性多态性片段长度(RFLP)技术检测98例健康对照者和216例2型糖尿病患者[其中DN患者104例,单纯2型糖尿病(DM)患者112例]的基因型,比较各组的基因型和等位基因频率。结果 (1)CC基因型者血清VEGFT水平高于CG及GG型者;(2)DN组CC基因型和C等位基因频率显著高于DM组和正常对照组;(3)与GG型和CG型组相比,CC型组DN的发生率明显上升;(4)Logistic回归分析显示VEGF、VEGF基因多态性、收缩压(SBP)、HbA1c、LDL-C、体重指数(BMI)是DN的危险因素。结论 VEGF-63gG/C多态性与2型DM伴发肾病的发生有关,C等位基因可能是DN的易感基因。 相似文献
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糖尿病肾病尿毒症患者芳香酯酶活性及其192位基因多态性研究 总被引:3,自引:0,他引:3
糖尿病肾病(DN)慢性肾功能衰竭伴脂代谢紊乱并发冠心病是导致死亡的重要原因。如何防治脂代谢紊乱并发心血管病已成为研究重要课题之一。芳香酯酶(arylesterase/paraoxonase ArE/PONI)为一种含巯基的脂酯水解酶,在脂蛋白中以和高密度脂蛋白(HDL)结合形式存在,具有抗抵密度脂蛋白氧修饰和降低HDL对氧易感性的作用。糖尿 相似文献
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目的:研究Toll样受体4(TLR4)基因多态性与2型糖尿病(T2DM)肾病患者尿路感染易感性的关系。方法:选取2020年02月—2023年02月该院收治的T2DM肾病合并尿路感染者85例(记为感染组)及同期未合并尿路感染的T2DM肾病患者81例(记为未感染组)、健康体检者30例(对照组)为研究对象,收集尿路感染者的中段尿液并予以病原菌培养和鉴定,测定其肾功能、炎症因子指标,经聚合酶链式反应(PCR)限制性片段长度多态性方法分析TLR4基因多态性,多因素Logistics回归法分析T2DM肾病患者尿路感染的危险因素。结果:85例T2DM肾病并发尿路感染患者中,中段尿样本共检出94株病原菌,包括革兰阴性菌55株(58.51%)、革兰阳性菌34株(36.17%)、真菌5株(5.32%),其中大肠埃希菌39株(占41.49%);感染组血清血肌酐(Scr)、24 h尿微量白蛋白(24 h UMA)、尿素氮(BUN)及超敏C反应蛋白(hs-CRP)、肿瘤坏死因子-α(TNF-α)、白细胞介素-6(IL-6)、核因子κB(NF-κB)、Nod样受体蛋白3炎性小体(NLRP3)均高于未感染组、对照组... 相似文献
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Association between apolipoprotein E polymorphism and macroalbuminuria in patients with non-insulin dependent diabetes mellitus. 总被引:3,自引:0,他引:3
S K Ha H S Park K W Kim S J Kim D H Kim J H Kim H Y Lee D S Han 《Nephrology, dialysis, transplantation》1999,14(9):2144-2149
OBJECTIVES: Apolipoprotein E (apo E) is known to play an important role in lipoprotein metabolism through its ability to bind to the receptors as a ligand. Three different apo E alleles (epsilon2, epsilon3 and epsilon4) produce six apo E genotypes (epsilon2/2, epsilon2/3, epsilon2/4, epsilon3/3, epsilon3/4 and epsilon4/4). The objective of this study was to investigate an association between apo E gene polymorphism and macroalbuminuria in 167 Korean patients with non-insulin dependent diabetes mellitus (NIDDM). METHODS: The patients in the macroalbuminuria group (n = 74) represent those in whom 24 h urinary albumin excretion was above 300 mg. The patients in the normoalbuminuria group (n = 93) represent those in whom 24 h urinary albumin excretion was below 30 mg and serum creatinine levels were less than 1.2 mg/dl. The duration of diabetes in all patients was at least 8 years. RESULTS: There were no significant differences in terms of age, sex, body mass index, HbA1c, total cholesterol, triglyceride, HDL-cholesterol and LDL-cholesterol between the two groups. In the macroalbuminuria group, the distribution of apo E genotypes revealed epsilon2/2 2 (2.7%), epsilon2/3 14 (18.9%), epsilon2/4 0 (0%), epsilon3/3 47 (63.5%), epsilon3/4 11 (14.9%) and epsilon4/4 0 (0%). In the normoalbuminuria group, the distribution of apo E genotypes revealed epsilon2/2 0 (0%), epsilon2/3 7 (7.5%), epsilon2/4 1 (1.1%), epsilon3/3 72 (77.4%), epsilon3/4 12 (12.9%) and epsilon4/4 1 (1.1%). There was no significant difference in the distribution of apo E genotypes between the two groups. However, there was a significant difference in the allele frequencies, epsilon2 frequency was significantly higher in macroalbuminuria group compared to normoalbuminuria group (12.2% vs 4.3%, P<0.05). Also, we compared apo E carrier frequencies between the two groups. Epsilon2 carrier frequency was significantly higher in macroalbuminuria group compared to normoalbuminuria group (21.6% vs 7.6%, P<0.05). In each group, there was no significant difference in the degree of lipid abnormalities between apo epsilon2 carrier (epsilon2/2, epsilon2/3 genotypes), epsilon3 carrier (epsilon3/3 genotype) and epsilon4 carrier (epsilon3/4, epsilon4/4 genotype). CONCLUSION: Apo epsilon2 allele and epsilon2 carrier frequencies were significantly higher in macroalbuminuria group. These results suggest that epsilon2 allele may be associated with the development of clinical albuminuria in Korean patients with NIDDM. 相似文献
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《Renal failure》2013,35(10):1449-1454
AbstractApolipoprotein E (apoE), one of the major plasma lipoproteins, plays a major role in the transport and metabolism of lipids by acting as a ligand. apoE gene contains three potential alleles: ?2, ?3 and ?4, forming six genotypes: E2E2, E2E3, E2E4, E3E3, E3E3 and E4E4. Association between apoE gene polymorphism and triglyceride (TG) is still controversial. There was no any meta-analysis to explore the association of apoE gene polymorphism with triglyceride level, and this meta-analysis was performed to evaluate the association between apoE gene polymorphism and triglyceride in patients with renal diseases. A predefined literature search and selection of eligible relevant studies were performed to collect data from electronic databases. Twenty-four articles were identified for the analysis of association between apoE gene polymorphism and triglyceride level. Subjects with E2E3 or E3E4 had a higher TG than those with E3E3. Subjects with ?4 had a higher TG than those with ?3. Subjects with ?2 had a slightly higher TG than those with ?3, although there was no statistical difference. Interestingly, subjects with ?4 had a much higher TG than those with ?2. In conclusion, E2E3, E3E4 or ?4 was associated with higher level of TG. However, more studies should be performed in the future. 相似文献
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目的探讨载脂蛋白E(ApoE)基因多态性与压力性尿失禁发生的关系。方法用聚合酶链反应-限制性片段多态性(PCR-RFLP)技术检测出99例解剖型压力性尿失禁(SUI)患者和101例无压力性尿失禁主诉,不合并Ⅱ以上盆腔器官脱垂对照者的ApoE基因型。结果解剖型SUI患者的ApoE e3等位基因频率低于对照组(79.44%vs 81.68%),ApoEe4等位基因频率高于对照组(10.00%vs 9.90%),差异无统计学意义(x~2=0.523,P=0.770)。结论 ApoE的基因型分布与SUI的发生无明显相关性。 相似文献
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Gitter J Langefeld CD Rich SS Pedley CF Bowden DW Freedman BI 《American journal of nephrology》2002,22(1):35-41
The prevalence of nephropathy in black patients with type 2 diabetes mellitus is poorly defined. We performed a cross-sectional analysis of 98 unrelated and unselected black type 2 diabetic patients treated in indigent care internal medicine clinics to determine the prevalence of proteinuria and nephropathy. Serum creatinine, blood urea nitrogen, urine albumin and urine creatinine concentrations were measured. A Spearman's rank correlation was computed to test for a relationship between diabetes duration and continuous outcomes. For binary outcomes, an odds ratio and 95% confidence interval were computed for a change of 10 years diabetes duration based on logistic regression. Cases were 61% female, and had mean (+/- SD) age 59.9 +/- 12.5 years, diabetes duration 12.6 +/- 9.4 years, body mass index 32.4 +/- 9.3 kg/m(2), hemoglobin A1C (HbA1C) 9.2 +/- 2.3%, and serum creatinine concentration 1.60 +/- 1.1 mg/dl. For continuous variables, diabetes duration was positively associated with albuminuria (r = 0.31; p = 0.0017), serum creatinine (r = 0.36; p = 0.0003) and blood urea nitrogen concentration (r = 0.36; p = 0.0003). For binary variables, cases with longer diabetes duration were at increased risk for urinary albumin:creatinine >300 microg/mg (p = 0.006), elevated serum creatinine concentration (> or = 1.4 mg/dl in women or > or = 1.6 mg/dl in men; p = 0.045), elevated blood urea nitrogen concentration (> or = 20 mg/dl; p = 0.026), and clinical cerebrovascular disease (p = 0.028). HbA1C, body mass index, and blood pressure did not correlate with diabetes duration in this population. Among the cases, 33.7% had elevated serum creatinine concentration and 71.5% had abnormal levels of albuminuria (27.6% > 300 microg albumin/mg Cr and 43.9% 30-300 microg albumin/mg Cr). Abnormal proteinuria was seen in the majority of black patients with poorly controlled type 2 diabetes mellitus treated in indigent care clinics. This prevalence may be conservative, due to the widespread use of angiotensin-converting enzyme inhibitor therapy and exclusion of cases treated only by nephrologists. Approximately 70% of black patients with type 2 diabetes cared for in indigent care clinics have abnormal proteinuria and are at heightened risk for ESRD and death. 相似文献
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<正>Objective:To explore the relationship between apolipoprotein E(ApoE) gene polymorphism and susceptibility of stress urinary incontinence(SUI). Methods:ApoE genotypes were examined by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) technique in 99 patients with SUI and 101 asymptomatic controls. Results:The frequency of allele e3 of ApoE was slightly lower in patients with anatomic SUI than that in controls (79.44%vs.81.68%),while the frequency of allele e4 of ApoE was slightly higher in patients with anatomic SUI than that in controls(10.00%vs.9.90%).No significant difference was found in frequency of allele e3 or e4 between SUI patients and controls(x~2=0.523,P = 0.770). Conclusion:The gene polymorphism of ApoE is not independently involved in the development of SUI. 相似文献
16.
It is commonly assumed that in patients the risks of developing nephropathy and uraemia are high in type I and low in type II diabetes mellitus. Since type II occurs mostly in elderly individuals with limited life expectancy and high cardiovascular mortality, the true risk may have been underestimated, as many patients do not survive to experience renal complications. To assess renal risk further, we evaluated all patients with type II and type I diabetes mellitus without severe secondary disease who were followed in the outpatient clinic between 1970 and 1985. The cumulative risk of proteinuria after 20 years of diabetes mellitus was 27% in type II and 28% in type I, the findings after 25 years were 57% and 46% respectively. The cumulative risk of renal failure, i.e. serum creatinine greater than 1.4 mg/dl, after 3 years of persisting proteinuria was 41% in both type II and type I, and after 5 years of proteinuria were 63% and 59% respectively. We conclude that the renal risk is similar in patients with type II and type I diabetes mellitus. 相似文献
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Cueto-Manzano AM Cortes-Sanabria L Martinez-Ramirez HR Rojas-Campos E Barragan G Alfaro G Flores J Anaya M Canales-Munoz JL 《Kidney international. Supplement》2005,(97):S40-S45
BACKGROUND: The aims of this study were to determine the prevalence of early nephropathy in patients with type 2 diabetes mellitus (DM2) attending primary care medical units and to identify risk factors for nephropathy in this population. METHOD: Seven hundred fifty-six patients with DM2 attending 3 primary care medical units were randomly selected. In a first interview, an albuminuria dipstick and a detailed clinical examination were performed, and a blood sample was obtained. If the albuminuria dipstick was positive, then a 24-hour urine collection was obtained within the next 2 weeks to quantify the albuminuria. In the blood sample, glucose, creatinine, and lipids were determined. Glomerular filtration rate was calculated using the Modification of Diet in Renal Disease Study equation. Demographics and medical history were recorded from clinical examination and medical charts. RESULTS: Prevalence of early nephropathy (EN) was 40%, normal function (NF) was found in 31%, and overt nephropathy (ON) in 29%. Patients with more severe kidney damage were older (NF: 54 +/- 10; EN: 60 +/- 11; ON: 63 +/- 10 years, P < 0.05) and had a higher proportion of illiteracy (NF: 11%, EN: 17%; ON: 25%, P < 0.05). The more severe the nephropathy, the longer the median duration of DM2 (NF: 6.0; EN: 7.0; ON: 11.0 years; P < 0.05); the higher the frequency of hypertension (NF: 38%; EN: 52%; ON: 68%; P < 0.05); and the higher the systolic blood pressure (NF: 126 +/- 21; EN: 130 +/- 19; ON: 135 +/- 23 mm Hg; P < 0.05). Both nephropathy groups had a significantly higher proportion of family history of nephropathy (NF: 4%; EN: 9%; ON: 13%) and a higher frequency of cardiovascular disease (NF: 5%; EN: 12%; ON: 25%), whereas only patients with ON had peripheral neuropathy (NF: 21%; EN: 22%; ON: 43%) and retinopathy (NF: 12%; EN: 18%; ON: 42%) more frequently than others. Fasting glucose was poorly controlled in all groups (NF: 186 +/- 70; EN: 173 +/- 62; ON: 183 +/- 73 mg/dL). Large body mass index (NF: 29.3 +/- 5.3; EN: 29.7 +/- 5.6; ON: 29.6 +/- 5.5 kg/m(2)), smoking (NF: 45%; EN: 43%; ON: 44%), and alcoholism (NF: 29%, EN: 29%; ON: 26%) were frequently found in this population, although there were no significant differences. In the multivariate analysis, only age, duration of DM2, and presence of retinopathy, hypertension, and cardiovascular disease were significantly associated with nephropathy. CONCLUSIONS: Two thirds of Mexican patients with DM2 attending primary health care medical units had nephropathy, 40% of whom were at an early stage of the disease. Many modifiable and nonmodifiable risk factors were present in these patients, but the most significant predictors for nephropathy are older age, longer duration of diabetes, and the presence of retinopathy, hypertension, and cardiovascular disease. 相似文献
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《Renal failure》2013,35(8):1247-1259
AbstractMethylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme that regulates nucleotide synthesis and DNA methylation. The MTHFR C677T gene polymorphism (rs1801133), a C?→?T transition at nucleotide 677 in exon 4, is a common gene variant of MTHFR and has been implicated in diabetic nephropathy, albeit with inconsistent results. Here, we performed a meta-analysis to assess the common effect size of this polymorphism on DN susceptibility. Case–control studies on the association of the MTHFR C677T gene polymorphism with DN risk were retrieved from databases up to August 1, 2013, and eligible studies were recruited into the meta-analysis and further analyzed. Of 132 studies, 33 were identified as suitable for this analysis. The results showed that T allele and TT genotype were distinctly associated with DN susceptibility in the overall population and Asians, and might be a risk factor in Caucasians and Africans (T allele: Overall population: p?<?0.00001, Asians: p?=?0.0002, Caucasians: p?=?0.02, Africans: p?<?0.00001; TT genotype: Overall population: p?<?0.00001, Asians: p?=?0.0003, Caucasians: p?=?0.008, Africans: p?=?0.0003). Furthermore, the analysis suggested that the CC genotype might play a protective role against DN onset in patients with type 2 diabetes for the overall population, Asians, Caucasian and Africans. However, due to the limited sample size in the African population, these results should be interpreted with care. In conclusion, the MTHFR C677T T allele or TT genotype might be a significant genetic molecular marker to determine the risk of DN in patients with type 2 diabetes and help to develop suitable disease prevention and management strategies. 相似文献
20.
载脂蛋白E基因多态性与原发性骨质疏松症的相关性研究 总被引:2,自引:0,他引:2
目的探讨载脂蛋白E基因多态性与原发性骨质疏松症、骨质疏松性骨折的相关性。方法选出60例原发性骨质疏松患者,其中髋部骨折组30例均为新近骨折并有X线片为诊断依据,30例健康对照组性别、年龄与之对应。全部对象均行骨密度测定;采静脉血,EDTA抗凝;淋巴细胞分离液分离白细胞,置-80℃保存;分离的白细胞中提取DNA;基因位点DNA扩增;PCR扩增产物SSCP分析。结果骨质疏松组及骨质疏松性骨折组载脂蛋白E基因2型、3型、4型等位基因频率分别为0.05、0.80和0.15,0.1167、0.5667和0.3167,而30例健康对照组依次为0.10、0.8667和0.0333。载脂蛋白E基因4型等位基因频率三组比较差异有显著性(X2=17.520,P<0.01);骨质疏松组及骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于正常人群;骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于骨质疏松组。结论载脂蛋白E4与原发性骨质疏松症、骨质疏松性骨折有密切相关性;载脂蛋白E4是原发性骨质疏松症,尤其是骨质疏松性骨折一个有用的标志物。 相似文献