Investigation of ABCA1 C69T polymorphism in patients with type 2 diabetes mellitus     

Ergen HA  Zeybek U  Gök O  Karaali ZE 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2012,22(1):114-120

Introduction:

Non insulin dependent diabetes mellitus is the most common type of diabetes. Genetic factors, lipid profiles, hypertension are potential risk factors for diabetes mellitus. Adenosine binding cassette transporter proteins 1 (ABCA1) plays a role in cholesterol metabolism, especially high density lipoprotein (HDL-cholesterol). There are multiple mechanisms by which HDL-cholesterol can be atheroprotective, it is clear that the relative activity of ABCA1 plays a major role. We aimed to investigate association of ABCA1 C69T gene polymorphism with lipid levels in Turkish type 2 diabetic patients.

Materials and methods:

After isolation of DNA by ethanol precipitation we determined ABCA1 gene polymorphism by using polimerase chain reaction - restriction fragment lenght polymorphism (PCR-RFLP) method in 107 type 2 diabetic patients and 50 healthy controls.

Results:

We have observed that the frequency of TT genotype is significantly higher in healthy controls compared to patients (14% vs. 3%; P = 0.008). Also frequency of T allele was higher in controls than in patients (34% vs. 21%; P = 0.020; OR (95% CI) = 0.52 (0.30–0.88)). There was no association of lipid levels and ABCA1 C69T polymorphism subgroups.

Conclusion:

We have found significantly higher frequency of both T allele and genotype in control group when compared to patients that made us think that T allele may be a protective factor against diabetes mellitus. But, we could not find a relationship between genotypes and lipid concentrations in our two groups. Larger studies will help us to understand the relationship between ABCA1 C69T genotype and lipid parameters in diabetes mellitus.  相似文献   

中国北方汉族男子ACE基因多态性与高住高练低训敏感性的关联研究     

周多奇  龚莉  胡扬  李燕春  衣龙彦  吴剑 《北京体育大学学报》2012,35(1):47-50

目的:探讨ACE基因I/D多态性与HiHiLo训练敏感性的关联性。方法:选取71名中国北方平原地区汉族男子进行4周高住高练低训(HiHiLo),方案为每日在低氧环境(O2浓度为14.5%~14.8%,大约相当于海拔3000m)中休息10h,每周进行3次75%.VO2max低氧训练(O2浓度为15.4%,大约相当于海拔2500 m),其余时间在常氧下训练;测试其HiHiLo前后的.VO2max及训练期间的血象指标;PCR分析受试者的ACE基因I/D多态性。结果:训练前各组基础值经方差检验无显著性差异;训练后,.VO2max、.VO2max/W、RBC、HB和HCT在整体及Ⅲ、D组都极显著性提高(P0.01),但GG组除HCT显著提高外(P0.05),其他各指标虽有上升,但都没有统计学意义(P0.05)。结论:HiHiLo能够提高有氧能力;携带ACE基因II和ID型的人有对低氧训练更敏感的趋势。  相似文献   

运动基因组学的研究进展     

娄婧婧  高雪峰 《四川体育科学》2021,(1)

目的:回顾目前在理解运动员能力遗传决定论方面的进展,并描述一些新的、重要的、可能成为精英运动员的差异标记的基础的DNA多态性。方法:通过文献综述和归纳分析法对过去几十年运动基因组学的研究进展作了简单的回顾。结果:运用全基因组关联研究(GWAS),在过去几年确定了41种标志物,这表明GWASs是一种有前景、富有成效的研究运动相关表型的方法。结论:未来的研究,包括多中心GWAS和大群运动员的全基因组测序的验证和复制研究,将有助于发现大量能部分解释运动能力和相关表型的遗传力的遗传变异(突变和DNA多态性)。  相似文献   

血管紧张素转化酶基因I/D多态性与高血压脑梗塞发病的相关性     

杜明艳  封靖  周桔  丁文军 《中国科学院大学学报》2010,27(6):778-781

采用PCR方法分别检测82例高血压合并脑梗塞患者(BI)、67例单纯高血压患者(EH)和95例健康对照者(C)的血管紧张素转化酶(ACE)基因I/D多态性类型,并分析ACE基因I/D多态性分布与高血压合并脑梗塞发病的相关性.结果显示,BI组ACE基因的D/D基因型频率和D等位基因频率(分别为0.341和0.524)显著高于C组(分别为0.200和0.374,P<0.05)和EH组(分别为0.179和0.358,P<0.05),而EH组和C组ACE基因的D/D基因型频率和D等位基因频率无显著性差异.该研究结果表明,ACE基因的D/D基因型可能是高血压合并脑梗塞发病的独立危险因素.  相似文献   

从HEPC基因筛选预测有氧耐力训练对左心室功能影响的分子标记     

乌云格日勒  胡扬  李燕春  聂晶  高莹 《北京体育大学学报》2010,(3)

目的:通过HEPC基因SNP/A2032G多态性与有氧耐力训练后左心室功能指标训练敏感性的关联性分析,从HEPC基因中筛选预测有氧耐力训练效果的分子标记,为制定个性化有氧耐力训练方案提供科学依据。方法:对102名中国北方平原地区健康男子进行为期18周的有氧耐力训练,使用超声心动仪测定其训练前后安静状态和递增负荷运动下的左心室功能指标,应用PCR-RFLP技术解析受试者SNP/A2032G多态性。采用association studies with training response phenotypes方法分析SNP/A2032G多态性与训练前后左心室功能指标的关联性。结果:经18周有氧耐力训练后,AG型150W/SV、150W/SVI和150W/EF的训练敏感性最高。其中,AG型群体的150W/SV、150W/SVI增加量显著高于GG型,且存在高于AA型的趋势;AG型群体的150W/EF增加量显著高于GG和AA型。结论:HEPC基因SNP/A2032G的AG型可作为预测有氧耐力训练后心室功能指标训练敏感性的分子标记。  相似文献   

ANP基因多态性对AMS发生及低氧习服效果的影响     

周文婷  胡扬  徐飞 《北京体育大学学报》2010,(12)

目的:研究ANP基因多态性对急性高山病(AMS)发生及低氧习服效果的影响。方法:Phase 1:模拟海拔4 800 m低氧环境中,61名北方汉族大学生急性暴露6 h,入舱30 min后以恒定负荷蹬车20min。Phase 2:恢复1周后,48名受试者进行3周渐进式低氧运动。恢复1周,重复Phase 1。PCR-RFLP法解析C-664G及T2238C位点基因型。结果:低氧运动后,62.5%的受试者低氧耐受力增强,AMS发生率由49.2%降至18.7%。C-664G和T2238C位点不同基因型和等位基因携带者的AMS发生率和AMS评分变化趋势不显著。结论:IAE辅以运动对AMS发生及低氧习服效果显著,ANP基因多态性与此无关。  相似文献   

人类体质及运动能力的遗传学基础——研究回顾及展望     

马力宏 《天津体育学院学报》2001,16(4):1-5

人类体质及运动能力的遗传学研究已有相对较长的历史,其研究方法从经典遗传流行病学发展到分子生物学,研究方法学上的革命不断更新人类对体质及运动能力遗传本质的理解.迄今为止,我们仅知道基因对人类最大有氧能力具有一定程度的调控作用,但其调节机制仍未阐明.  相似文献   

人补体C4的RFLP与HLA分型之间关系的探讨     

张曙云 《科技通报》1996,12(1):61-64

应用Ｓｏｕｔｈｅｒｎ印迹杂交法、高压琼脂糖凝胶电泳和标准的微量淋巴细胞毒试验对中国汉族人４４例正常无相关个体进行了Ｃ４基因限制性片段长度多态性（ＲＦＬＰ）、Ｃ４蛋白分型及ＨＬＡ－ＤＲ分型的测定，结果发现Ｃ４ＲＦＬＰ Ａ、Ｂ二种格局在Ｃ４Ｂ＊Ｑ０的表现型上有显著差异（Ｐ〈０．０５）；ＲＦＬＰ Ａ型格局与ＤＲ４相关（Ｐ〈０．０５）。  相似文献   

餐时降血糖药物那格列奈多晶型的结构测定与药效比较   总被引：1，自引：0，他引：1  

李钢  吕光烈  陈家英  徐群为 《常熟理工学院学报》2006,20(2):73-77

那格列奈是一种用于治疗Ⅱ型糖尿病的口服新药,具有起效快,作用持续时间短的特点。本文对那格列奈的多晶型结构和药效(两种模型)进行了测定和讨论。结果表明在那格列奈的三种结构中,H晶型为三斜晶系,晶胞参数a=1.7699(7)nm,b=2.7191(8)nm,c=1.2670(6)nm,α=61.75(3)°,β=73.11(6)°,γ=66.77(7)°,V=4.895nm3,Z=10.S晶型为正交晶系,晶胞参数a=2.3178(6)nm,b=2.5332(5)nm,c=0.6531(2)nm,α=β=γ=90,°V=3.835nm3,Z=8.小白鼠模拟降糖试验表明:与目前上市的H晶型相同,S晶型也具有很好的降血糖作用,特别是在用药40分钟时,效果更显著。  相似文献   

Status of Vitamin D Receptor Gene Polymorphism and 25-Hydroxy Vitamin D Deficiency with Essential Hypertension     

M. Prasad  D. Rajarajeswari  P. Aruna  K. Ramalingam  R. Viswakumar  Nusrath Fathima  Sandeep Kumar Vishwakarma  Aleem Ahmed Khan 《Indian journal of clinical biochemistry : IJCB》2022,37(3):335

Essential hypertension (EH) is a multifactorial and complex disease with high rate of incidence and associated co-morbidities. Previous studies do not provide unanimous results for the risk of hypertension and association with Fok I genotype frequency and serum vitamin D levels. Hence, this study was undertaken to determine the status of Fok I vitamin D receptor (VDR) gene polymorphism along with vitamin D levels and blood pressure in patients with EH. Four hundred (200 controls and 200 cases of essential hypertension) participants from general Indian population were enrolled in this study. Peripheral blood samples were collected for genotyping Fok I-VDR gene polymorphism using PCR–RFLP method whereas 25-OH vitamin D levels in serum were quantified using high performance liquid chromatography (HPLC). Significantly reduced 25-OH vitamin D levels were observed in patients with EH (24.04 ± 8.62 vs 50.46 ± 15.46) compared to control subjects (p = 0.0001). Homozygous recessive genotype ‘ff’ frequency was increased by 8.06 fold (CI: 3.71–17.47, p = 0.0001) in patients with EH compared to dominant ‘FF’ genotype frequency. In conclusion, recessive ‘ff’ genotype frequency correlates with reduced serum vitamin D levels and results in significantly increased systolic and diastolic blood pressures leading to predisposition of EH.  相似文献