Distribution of 42-bp variable tandem repeat polymorphism of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene in eight human populations

We recently identified a 42bp Variable Number of Tandem Repeats polymorphism in intron 4 of Cold-induced autoinflammatory syndrome 1 gene (CIAS1 42bp-VNTR), which are associated with CIAS1 gene expression and some inflammatory disease. The aim of our study is to investigate whether variability of CIAS1 42bp-VNTR allele is difference among races. A total of 1291 subjects from 7 populations (178 Chinese, 95 Korean, 614 Mongolian, 49 Bangladesh, 72 Sri Lanka, 192 African and 91 European) was genotyped on CIAS1 42bp-VNTR polymorphism, which was also compared to previous genotyping data from 508 Japanese subjects. A total of 11 genotypes and 5 alleles were found in 8 populations. The range of allele frequencies of CIAS1?6, CIAS1?7, CIAS1?9, CIAS1?12, and CIAS1?13 were 0.000-0.167, 0.056-0.248, 0.008-0.203, 0.570-0.923, and 0.000-0.104 in eight populations. The CIAS1?12 was the most common allele among all populations. The longest allele CIAS1?13 in African population was extremely high frequent at 0.104 compared to other population. While shortest allele CIAS1?6 was not observed Sri Lankan and African. Frequency (0.924) in the Sri Lankan population. These results showed that the CIAS1 42bp-VNTR polymorphism could represent genetic diversity among different human populations.     

Genetic contributing factors to substance abuse: an association study between eNOS gene polymorphisms and cannabis addiction in a Turkish population

It is known to be largely related to behavioural changes and neuropsychiatric disorders, and studies demonstrating the influence of eNOS gene variants in the development of depressive, aggressive and suicidal behaviours exist in the literature. Here, we investigate two polymorphisms in the eNOS gene, namely, G894T (Glu298Asp) and intron 4 VNTR, as possible genetic contributing factors to cannabis addiction. DNA samples used in this work were purified from the peripheral blood of 94 unrelated Turkish cannabis-dependent subjects and 100 Turkish control subjects from the southeastern region of Turkey. The eNOS polymorphisms were characterised by the PCR and/or PCR-RFLP (Polymerase Chain Reaction-restriction fragment length polymorphism) method. The De-finetti programme, chi-square, Fisher’s exact test, odds ratio and 95% confidence intervals (CI) were used for statistical analysis. The incidence of aa and TT genotypes and the frequency of the alleles a and T were found to be significantly higher in the cannabis addicts group than in the control subjects (p < 0.05). The results indicate that G894T and intron 4 VNTR eNOS gene polymorphisms are statistically-significant contributing factors to susceptibility to cannabis addiction, while the same polymorphism alleles associated with high NO levels are a protective factor in Turkish subjects. To the best of our knowledge, this is the first study on eNOS gene polymorphisms involving the Turkish population.     

Angiotensinogen and Plasminogen Activator Inhibitor-1 Gene Polymorphism in Relation to Renovascular Disease

The present study was designed to evaluate angiotensinogen (AGT) M235T and plasminogen activator inhibitor-1 (PAI-1) (4G/5G) polymorphisims in relation to the occurrence of atherosclerotic renal artery stenosis (ARAS) and recurrent stenosis. In this study, 30 patients were enrolled after angiographic demonstration of ARAS; 100 healthy subjects for AGT polymorphism and 80 healthy subjects for PAI-1 polymorphism were considered the control group. The patients were followed for a mean 46.1 ± 9.2 months. The patients had significantly higher frequencies of the MT genotype and the T allele than control group (χ² = 18.2, p < 0.001 and χ² = 11.5 p < 0.001). There were no significant differences in the PAI-1 genotype and allele findings when the data for all patients were compared with that for the controls (χ²= 2.45, p = 0.29 and χ² = 0.019, p = 0.89). There were no significant differences in the genotype and allele findings for the patients with and without restenosis (p > 0.05). The C-reactive protein (CRP) level was higher in the patients with restenosis than in the patients without restenosis (7.694 ± 0.39 mg/L and 1.56 ± 1.08 mg/L) (p = 0.001). Our results suggest that the M235T MT genotype and T allele might be associated with increased risk of atherosclerotic renal artery stenosis. The CRP level might be an independent predictor for recurrent stenosis.     

TPH1 A218 allele is associated with suicidal behavior in Turkish population

BackgroundSerotonergic dysfunction is implicated in depression, psychiatric disorders and suicidal behaviors. The first and rate-limiting step in the synthesis of serotonin is catalyzed by tryptophan hydroxylase (TPH) which is encoded by TPH1 and THP2 genes. Genetic association studies have revealed contradictory results about the effect of the TPH1 A218C (rs1800532) polymorphism on suicidal behavior in different populations.Material and methodIn this study, we investigated A218C polymorphism in 109 suicide attempters and 98 healthy controls. Socio-demographic characteristics of participants were obtained through questionnaire. DNA was extracted from peripheral blood and genotyping was performed by Real Time PCR. Fisher’s exact test was used to evaluate the significance of the difference among the independent variables. Hardy-Weinberg equilibrium was tested using Pearson’s goodness-of-fit chi-squared test.ResultsThe frequency of A allele was significantly higher in suicide attempters than controls (46.33% vs. 35.71%, p = 0.0357). However, there were no differences in genotype frequencies of this locus between participants having attempted suicide and controls (p > 0.05). Among males, frequencies of CC genotype and C allele were found to be significantly higher in controls (p = 0.0125, p = 0.0298). With regard to the female subjects and female controls, no significant association was detected between suicidal behavior and genotype/allele frequencies (p > 0.05).ConclusionOur results provide evidence that A allele of TPH1 A218C polymorphism may be associated with suicidal behavior in Turkish population.     

中国北方抑郁症与OPRM1基因多态性的相关性研究

 

目的 为探索抑郁症的发病机制及其基因诊断和治疗提供科学的依据。方法 分析药物效应动力学Mμ阿片受体基因OPRM1(Mμ-Opioid receptor,OPRM1)的遗传多态性数据。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和聚合酶链反应-序列特异性引物(PCR-SSP)分析技术检测369例抑郁症患者与738例健康部队官兵OPRM1基因第一外显子区rs1799971C/T与第三内含子区rs648893G/A两个多态性位点的基因型和等位基因频率。运用SPSS13.0和Haploview等软件进行统计学分析。结果 OPRM1基因位点的基因型及等位基因频率分布在抑郁症组与正常对照组间存在统计学意义(P<0.05)。其中,rs1799971A/G的等位基因频率只在男性34～49岁抑郁症组与对照组间存在统计学差异(OR=0.564,95%CI:0.196～0.837,P=0.001),而rs648893C/T位点的等位基因频率在不同年龄的病例组与对照组间不存在统计学意义差异(OR=0.853,95%CI:0.649～1.121,P=0.139)。结论 OPRM1基因第一外显子区rs1799971位点多态性可能是中国北方汉族抑郁症患者的风险因素,可能与抑郁症的发病存在关联。

     

ATP结合盒转运子A1R219K基因多态性与飞行员血脂异常的关系

 目的探讨三磷酸腺苷结合盒转运子(ABCA1)的R219K基因多态性与飞行员血脂的关系。方法199例男性飞行员分为91例血脂异常组及108例血脂正常组(对照组),检测两组血脂及其他生化指标。PCR-RFLP方法测定两组ABCA1R219K基因多态性。结果高血脂组与对照组ABCA1基因R219K基因型(RR、RK、KK)及等位基因频率(R、K)分别为28.6%、47.2%、24.2%、52.2%、47.8%,以及33.3%、53.7%、13.0%、60.2%、39.8%。两组基因型及等位基因频率差异无统计学意义(χ²=4.197,P=0.123;χ²=2.564,P=0.109)。高血脂组不同基因型的TC、TG、LDL-C差异均无统计学意义(分别为P=0.631,P=0.449,P=0.834)。而高血脂组携带KK基因型者HDL-C明显高于携带RR基因型者[(1.44±0.11)mmol/Lvs(1.10±0.23)mmol/L,P<0.05]。结论检测ABCA1R219K基因型可为飞行员心、脑血管疾病的预防及个体化治疗提供新思路、新方法。     

GLUT1基因SNP/G22999T多态位点作为预测HiHiLo对左心室结构和功能影响效果的分子标记的研究

目的:探讨葡萄糖转运蛋白1(glucose transporter 1)基因第2内含子上G22999T单核苷酸多态性(SNP)与HiHiLo(living high-exercise high-training low)对递增负荷运动中左心室结构和动态心功能的影响的关联关系。方法:采用关联分析(Association-Study)研究方法,聚合酶链反应-限制片段长度多态性(PCR-RFLP)技术,选取72名健康受试者,在模拟海拔2500米高度进行4周低氧训练(低氧暴露10h/d,3次75%VO2max低氧训练/周,共4周)。实验前后,运用二维及Doppler超声心动图技术,分别于HiHiLo前后测量72名受试者在递增负荷全过程中的心脏结构指标、收缩功能指标及舒张功能指标。结果:(1)GLUT1基因SNP/G22999T经扩增、酶切后得到GG、GT和TT三种基因型,符合Hardy-Weinberg遗传平衡定律,具有群体代表性。2)GLUT1基因SNP/G22999T多态位点T等位基因携带者短轴缩短率(SF)减小量、递增负荷实验100W(负荷下ESV减小量和50W、100W负荷下的EDT增加量均明显高于未携带T等位基因者。结论:SNP/G22999T多态位点T等位基因携带者较非携带者对HiHiLo训练更敏感,但将该多态位点作为筛选HiHiLo对左心室结构和功能影响效果的分子标记还需加大样本进一步研究。     

Genetic polymorphism of inter-α-trypsin inhibitor (ITI) in the Basque Country (northern Spain)

Summary The genetic polymorphism of inter--trypsin inhibitor (ITI) was analyzed in 2 samples of 554 residents and 303 autochthonous healthy unrelated individuals from the Basque Country (northern Spain), by isoelectric focusing on miniaturized polyacrylamide gels followed by immunoblotting. The allele frequencies were ITI*1 = 0.586; ITI*2 = 0.402 and ITI*3 = 0.012 in residents and ITI*1= 0.548, ITI*2 = 0.449 and ITI*3 = 0.003 in the autochthonous population. These allele frequencies were compared with those reported in other European populations.     

IL-6基因启动子区-634C/G多态性与糖尿病视网膜病变的关系

目的 探讨白细胞介素-6（IL-6 gene,IL-6）基因启动子区-634C/G多态性与中国广东地区汉族人糖尿病（diabetes mellitus,DM）患者视网膜病变（diabetic retinopathy,DR）的关系。方法 在中国广东地区汉族人中,应用聚合酶链反应限制性片段长度多态性（PCR-RFLP）方法,对245例2型糖尿病（T2DM）患者,其中正常眼底即DR0组153例,非增殖期视网膜病变即DR1组51例,增殖期视网膜病变即DR2组41例,和101例健康对照者（NC组）的IL-6基因启动子区-634C/G多态性进行了检测,并比较分析各组间基因型频率和等位基因频率以及相关临床资料。结果 （1）DR0、DR1、DR2三组间在年龄、性别、血压、体重指数、腰臀比、空腹血糖、餐后2 h血糖、糖化血红蛋白A1c、血脂等指标均无统计学差异,而病程在三组间差异具有统计学意义（F=19.05,P〈0.05）。（2）基因型GG在NC、DR0、DR1、DR2各组间差异有统计学意义（χ^2=20.839,P=0.002）,DR1、DR2组GG基因型明显高于DR0组,差异有统计学意义（χ^2=7.615,P=0.022）;等位基因G在NC、DR0、DR1、DR2各组间差异有统计学意义（χ^2=11.687,P=0.009）,但两组间比较差异无统计学意义。（3）Logistic回归分析表明,IL-6基因启动子区-634G/G基因型、病程及空腹血糖是DR发生的危险因素。结论 在中国广东地区汉族人中,IL-6基因启动子区-634 G/G基因型是DR的遗传危险因素。     

SREBP-1c基因多态性与非酒精性脂肪性肝病的关系研究

目的 研究固醇调节元件结合蛋白-1c（SREBP-1c）基因多态性与非酒精性脂肪性肝病（NAFLD）的关系.方法 选取152例NAFLD患者和146例未患脂肪肝人员,收集血液样本检测血脂水平,采用聚合酶链反应-限制线片段长度多态性（PCR-RFLP）技术分析SREBP-1c基因18号外显子54G/C多态性.结果 NAFLD病例组TC、TG和LDL-C水平均明显高于对照组（P＜0.05）.两组的SREBP-1c18号外显子54G/C单核苷酸多态性均以GG型的比例最高,两组基因型频率分布有统计学差异（χ2=6.1096,P＜0.05）,NAFLD病例组中C等位基因频率明显高于对照组（χ2=6.2520,P＜0.05）.C等位基因携带者患NAFLD的风险是G等位基因的1.6484倍（OR=1.6484,95%CI：1.3233~10.0984）.结论 研究对象的血脂水平异常与NAFLD的患病有显著相关性,参与糖代谢、脂代谢的SREBP-1c基因18号外显子54G/C呈现多态性,其C等位基因可能会使个体的NAFLD发病风险增加.     

WNK4基因Ala589Ser多态在原发性高血压发病中作用的探讨

目的 探讨WNK4基因Exon8 Ala589Ser多态与原发性高血压的关系。方法 259例原发性高血压患者和235例健康对照组人群血样应用PCR-RFLP方法检测WNK4基因Exon8 Ala589Ser多态,结果经测序验证,同时检测所有人群的血糖、血脂等生化指标。进一步应用Logistic回归分析各种临床生化指标及该多态与高血压的危险关系。结果 原发性高血压组与健康对照组WNK4基因Exon8 Ala589Ser多态基因型比较无明显差异（P〈0．05）,但两组等位基因频率比较具有显著性差异（P〈0．05）。Logistic分析显示异常的胆固醇、低密度脂蛋白水平及WNK4基因Exon8 Ala589Ser多态T等位基因携带者高血压患病危险显著增高。结论 WNK4基因Exon8 Ala589Ser多态与原发性高血压密切相关,T等位基因是高血压的独立危险因素,可能参与了原发性高血压的发病过程。     

细胞毒T淋巴细胞相关抗原4（CTLA-4）基因多态性与牙周炎患者的关系研究

目的：通过检测CTLA-4＋49A/G,-318C/T基因型在牙周炎患者中的分布进而分析CTLA-4基因多态性与牙周炎发生、发展的相关性。方法：采用多聚酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）检测55例慢性牙周炎,48例侵袭性牙周炎以及80例健康对照者中CTLA-4＋49A/G,-318C/T基因型频率,统计分析其在慢性牙周炎及侵袭性牙周炎患者中的差异性。结果：CTLA-4＋49等位基因G及基因型GG在慢性牙周炎患者中的频率显著高于健康对照组,而在侵袭性牙周炎患者中无显著差异;而无论在慢性牙周炎还是侵袭性牙周炎中CTLA-4-318C/T等位基因及基因型频率均无显著差异。结论：CTLA-4基因多态性与牙周炎的发生、发展可能存在相关性,CTLA-4＋49等位基因G及基因型GG是慢性牙周炎的易感因子;此外,CTLA-4-318C/T基因多态性与牙周炎的易感性无关。     

维吾尔族和汉族人群RANTES基因多态性特征及其对HIV-1感染的意义

目的　分析RANTES启动子区等位基因在中国维吾尔族和汉族健康人和HIV 1感染者中的分布特点 ,以期阐明RANTES基因突变型和人类免疫缺陷病毒(HIV 1 )感染在不同民族人群的关系。方法　利用PCR RFLP法对维吾尔族和汉族HIV 1感染者和健康人群的 86 5份样品的RANTES 4 0 3、 2 8等位基因进行检测。结果　两个位点在维吾尔族和汉族人群均有较高的等位基因频率 ,分布基本一致 ;RANTES等位基因具有 6个基因表型 ,分别为AC/AC、AC/AG、AC/GC、AG/GC、GC/GC和AG/AG ;从单倍型看 ,汉族和维吾尔族均以GC为最高 ,占 6 2 7% ,AC分别为 2 8 7%和 30 4 % ,AG分别为 8 6 %和 6 8%。但是从单个位点看 ,HIV感染者和健康人、吸毒者差异均无统计学意义(P >0 0 5 ) ;从基因表型分析 ,与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的关联(OR =0 33～0 81 )。结论　汉族和维吾尔族中RANTES启动子区 4 0 3/ 2 8均有较高的突变频率 ;与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的保护作用     

中国汉族人群SCN5A基因H558R、P1090L、4299+53T＞C及D1819D的多态性研究

目的了解中国汉族人群SCN5A基因单核苷酸多态性少见等位基因频率分布情况。方法在社区体检人群中选择126例作为研究对象,采用限制性片段长度多态性分析（RFLP）对SCN5A基因的H558R、P1090L、4299＋53T〉C及CA457T（D1819D）多态位点进行基因型鉴定,并随机选取样本采用ABI3700毛细血管电泳进行序列测定验证酶切结果。结果SCN5A H558R、P1090L、4299＋53T〉C及C5457T（D1819D）在中国汉族人群中的少见等位基因频率分别为11．1％、5．2％、28．2％及31．8％,与日本及国人先前的研究结果不尽相同。结论SCN5A基因的单核苷酸多态性存在种族差异。     

肌红蛋白基因多态性与运动性肌肉损伤的相关性

 目的 探讨肌红蛋白（myoglobin, Mb）基因第2外显子单核苷酸多态（A79G）与运动性肌肉损伤的关系。方法 85名武警战士进行一次大强度负重运动,检测血清肌酸激酶（creatine kinase,CK）活性的时程变化;聚合酶链反应-限制性片段长度多态（PCR-RFLP）法测定Mb基因多态性;分析基因多态性与安静CK（CK_pre）、峰值CK（CK_peak）及CK最大变化值（△CK）的关系。结果 CK_pre为（145±33）U/L,大强度运动后24 h开始逐渐升高,72 h达峰值［CK_peak：（2972±1648）］U/L,随后缓慢下降,120 h仍高于安静水平。3种基因型的分布频率分别为AA（54.1%）、AG（40.0%）、GG（5.9%）,等位基因分布频率为A（74.1%）、G（25.9%）,符合Hardy-Weinberg遗传平衡定律。组间比较,（AG+GG）组CK_pre、CK_peak和△CK均高于AA组（均P＜0.01）。结论 运动性肌肉损伤易感性与Mb基因第2外显子单核苷酸多态（A79G）有关,G等位基因具有肌肉损伤易感性,而AA基因型则具有运动性肌肉损伤保护作用。     

Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain

Summary The polymorphism of the D1S80 locus has been analyzed in a population sample of 203 unrelated individuals living in Madrid (central Spain) by PCR and subsequent semi-dry discontinuous polyacrylamide gel electrophoresis (Tris-chloride/Tris-glycine buffer system) followed by silver staining, The electrophoretic system described in this study offers high resolution in the separation of the different D1S80 alleles allowing the detection of microvariability around the allele T22 in the spanish population. Twenty different alleles containing 17–40 repeats of the basic 16bp unit were distinguished. The alleles T18 and T24 were found to be relatively common in Spain, as in other populations:, with frequencies of 0.224 and 0.372, respectively. No evidence of significant deviations from Hardy-Weinberg equilibrium was found in these preliminary population data.     

内皮型一氧化氮合酶基因多态性与新疆汉族原发性高血压的相关性研究

目的研究新疆汉族人内皮型一氧化氮合酶(Endothelial nitric oxide synthase,eNOS)基因第7外显子G894T及第4内含子4b/a VNTR多态性与原发性高血压(essential hypertension,EH)的关系。方法分别采用聚合酶链反应-限制性片断长度多态性(Polymerase chain reaction-restricted fragments length polymorphism,PCR-RFLP)技术及PCR技术检测176例原发性高血压患者、131例对照组eNOS基因G894T和4b/a多态性的基因型,分析其对原发性高血压的影响。结果原发性高血压组和对照组eNOS基因G894T、4b/a多态性的等位基因频率及基因型分布在两组间差异无统计学意义。结论 eNOS基因894G→T变异及4b/a VNTR多态性与新疆汉族原发性高血压无明显关联。     

Genetic polymorphism of human α2HS-glycoprotein (AHSG) in the resident population of the Basque Country (Northern Spain)

The genetic polymorphism of human alpha 2 HS-glycoprotein (AHSG) was studied in a sample of 466 healthy unrelated individuals resident in the Basque Country (Northern Spain) by isoelectric focusing on micro-ultrathin polyacrylamide gels followed by immunoblotting. The allele frequencies obtained were AHSG*1 = 0.7253, AHSG*2 = 0.2683 and AHSG*3 = 0.0064. These allele frequencies were compared with those reported in other European populations.     

飞行员中CKB基因rs3759582和rs3759584位点多态性研究

目的了解飞行员脑型肌酸激酶（CKB）基因rs3759582和rs3759584位点多态性情况,探讨其与飞行员基础正加速度（＋Gz）耐力的可能关系。方法用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）对122名飞行员和128名普通健康人CKB基因rs3759582和rs3759584位点进行多态性分析比较。结果rs3759582位点基因型和等位基因频率在两组间无统计学差异（P〉0．05）,rs3759584位点基因型和等位基因频率在两组间有显著统计学差异（P〈0．01）,TT基因型和T等位基因在飞行员组明显高于普通对照组。结论CKB基因rs3759582位点不是预测飞行员飞行时＋Gz耐力的基因标记,rs3759584位点T等位基因对飞行员飞行时＋Gz耐力可能有重要作用。     

The COL12A1 and COL14A1 genes and Achilles tendon injuries

Genes encoding for tenascin C and a subunit of type V collagen have previously been reported to be associated with Achilles tendon injuries. Types XII and XIV collagen may be involved in similar biological processes as these proteins in tendons. The aim of this study was therefore to test the association between polymorphisms within COL12A1 and COL14A1 and Achilles tendon injuries. Restriction fragment length polymorphism (RFLP) analysis was used to identify the relative frequencies of two polymorphisms within each of the COL12A1 and COL14A1 genes within 137 subjects with clinical symptoms of Achilles tendon injuries, consisting of 93 with Achilles tendinopathy and 44 with Achilles tendon rupture, and 131 asymptomatic control subjects. No statistically significant differences were identified in the genotype, allele or haplotype distributions between the affected and control subjects. The findings from this study suggest that although COL12A1 and COL14A1 are involved in similar biological processes as TNC and COL5A1, the polymorphisms tested are not associated with clinical symptoms of Achilles tendon injury within the investigated population.