冠心病患者OX40配体蛋白基因多态性的研究

目的:探讨中国重庆地区汉族人群OX40配体蛋白基因(TNFSF4)单核苷酸多态性与冠心病的关系。方法:提取262例冠心病患者和191例对照者的基因组DNA,采用Taqman实时荧光定量PCR法检测TN-FSF4 rs3850641(A/G)单核苷酸多态性。结果:重庆地区汉族人群中存在TNFSF4 rs3850641(A/G)单核苷酸多态性,冠心病组中基因型分布为:AA型70.5%,AG型22.0%、GG型7.5%;对照组基因型分布为:AA型69.8%,AG型20.8%、GG型9.4%。冠心病组和对照组之间的基因型频率和等位基因频率均差异无统计学意义(P0.05)。结论:OX40L基因rs3850641(A/G)单核苷酸多态性与中国重庆地区汉族人群冠心病发病无关。     

乙醛脱氢酶2基因 rs671多态性和新疆汉族人群原发性高血压的关联性研究

目的：探讨乙醛脱氢酶2（ALDH2）基因 rs671多态性在新疆地区汉族人群原发性高血压（EH）发病中的作用。方法应用 Taqman 技术检测了474例汉族 EH 患者和358例正常血压者 ALDH2基因 rs671多态性。结果在男性人群中,饮酒组 rs671的 GA ＋AA 基因型频率和 A 等位基因频率均明显低于不饮酒组（P ＜0．01）;EH 组 rs671的 GA ＋AA 基因型频率和 A 等位基因频率均明显低于对照组（P ＜0．01）。而在女性人群中,EH 组和对照组 rs671的 3 种基因型频率和等位基因频率的分布差异无统计学意义（P ＞0．05）。非条件 Logistic 回归分析校正年龄、体重指数、糖尿病史、饮酒史等影响因素后,在男性人群中 rs671的 GA ＋AA 基因型者患 EH 的风险低于 GG基因型者（OR ＝0．656,95％CI：0．448～0．962,P ＜0．05）,GA ＋AA 基因型者收缩压水平明显低于GG 型者（P ＜0．05）。而在男性不饮酒者和女性人群中,GA ＋AA 基因型者和 GG 基因型者血压水平比较差异无统计学意义。结论ALDH2基因 rs671多态性可能和新疆汉族男性人群 EH 的发生相关,rs671的 GA ＋AA 基因型可能是汉族男性人群 EH 的一个保护因素。     

SCNN1A基因多态性与土家族、苗族及汉族人群原发性高血压相关性的研究

目的:探讨上皮细胞钠通道α亚基(SCNN1A)基因单核苷酸多态性位点rs2228576与湘西土家族、苗族和汉族人群原发性高血压(EH)的相关性。方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析土家族(120例)、苗族(117例)和汉族(125例)人群EH患者(EH组)与正常人群[正常对照组(土家族119例、苗族125例、汉族122例)]SCNN1A等位基因频率分布状况。结果:土家族、苗族和汉族均存在3种AA、AG及GG基因型;土家族、苗族和汉族正常对照组基因型频率分别为(0.109,0.538,0.353;0.152,0.472,0.376;0.164,0.541,0.295);各族EH组与正常对照组基因型频率差异均无统计学意义(χ2=5.662,P>0.843);等位基因频率差异均无统计学意义(χ2=3.538,P>0.618)。结论:3个民族均存在SCNN1A基因rs2228576多态性位点,但该多态性位点与3个民族EH无明显相关性。     

冠心病患者OX40配体蛋白基因多态性的研究

目的探讨中国重庆地区汉族人群OX40配体蛋白基因(TNFSF4)单核苷酸多态性与冠心病的关系。方法提取262例冠心病患者和191例对照者的基因组DNA,采用Taqman实时荧光定量PCR法检测TNFSF4 rs3850641(A/G)单核苷酸多态性。结果重庆地区汉族人群中存在TNFSF4 rs3850641(A/G)单核苷酸多态性,冠心病组中基因型分布为:AA型70.5%,AG型22.0%、GG型7.5%;对照组基因型分布为:AA型69.8%,AG型20.8%、GG型9.4%。冠心病组和对照组之间的基因型频率和等位基因频率均无显著性差异(P>0.05)。结论 OX40L基因rs3850641(A/G)单核苷酸多态性与中国重庆地区汉族人群冠心病发病无关。     

内皮型一氧化氮合酶基因rs3918181位点多态性与原发性高血压的关系研究

目的 探讨天津市汉族人群内皮型一氧化氮合酶(eNOS)基因第14内含子rs3918181位点多态性与原发性高血压(EH)的关系.方法 采用聚合酶链反应-限制性内切酶片段长度多态分析法(PCR-RFLP)对290例EH患者和161名健康对照者的eNOS基因rs3918181位点进行基因多态性分型,同时检测所有研究对象的血脂等危险因素,分析不同基因型与EH发病的关系.结果 两组年龄、体质指数的差异有统计学意义(均为P＜0.05).EH组患者的AA、AG和GG基因型分布频率分别为0.293、0.393和0.314,对照组分别为0.180、0.472和0.348,两组相比差异有统计学意义(均为P ＜0.05);EH组A与G等位基因频率分别为0.490和0.510,对照组分别为0.416和0.584,两组相比差异有统计学意义(均为P ＜0.05).影响EH的危险因素有年龄、体质指数.结论 eNOS基因rs3918181位点多态性与EH相关.     

中国北方汉族人群CYP4F2基因rs2108622多态性与原发性高血压的相关性研究

目的：探讨我国北方汉族人群CYP4F2基因单核苷酸多态性位点rs2108622与原发性高血压的相关性。方法：采用病例-对照研究的方法,选取在北京安贞医院就诊的北方汉族原发性高血压者765例（HT组）和同期健康体检血压正常者477例（NT组）。应用TaqMan荧光定量法对CYP4F2基因rs2108622进行基因分型,评估该多态性位点与我国北方汉族人群原发性高血压发病风险的关系。结果：rs2108622位点在HT组和NT组的基因型分别为AA型61/35、AG型296/162、GG型403/273;A等位基因频率分别为27.5%/24.7%,G等位基因频率分别72.5%/75.3%。两组间基因型和等位基因频率分布,差异均无统计学意义（分别为P=0.218,P=0.123）。多因素Logistic回归分析显示：等位基因模型（OR=1.147,95%CI=0.853!1.543）、显性模型（OR=0.788,95%CI=0.549!1.131）、隐性模型（OR=1.153,95%CI=0.549!2.422）、纯合子模型（OR=1.018,95%CI=0.48!2.157）、加性模型（OR=0.872,95%CI=0.649!1.172）均未发现该多态性位点与原发性高血压存在相关性。根据性别进行亚组分析显示：男性亚组中A等位基因频率在HT组（27.5%）高于NT组（23.7%）,但差异无统计学意义（P=0.096）。而在女性亚组中各基因型和等位基因频率分布两组间比较,亦均差异无统计学意义（P=0.579和P=0.677）。结论：本研究发现CYP4F2基因rs2108622多态性位点可能与中国北方汉族人群原发性高血压的发病不存在相关性。     

AT1R基因A1166C多态性与贵州布依族、汉族原发性高血压的相关性研究

目的:研究血管紧张素1型受体(AT1R)基因A1166C多态性与贵州地区布依族、汉族原发性高血压(EH)的相关性。方法:在贵州省独山县人民医院病房及门诊收集的EH确诊病例为高血压组,布依族77例,汉族74例;门诊体检选取健康成年人群为正常对照组,布依族64例,汉族78例。采用PCR扩增技术及限制性酶切法(PCR-RFLP),检测布依族、汉族高血压组及正常对照组的外周血白细胞DNA中AT1R基因A1166C的多态性,统计分析布依族、汉族高血压组和正常对照组中A1166C基因型及等位基因频率的分布情况。结果:布依族高血压组的AA、AC和CC基因型频率分别为93.5%、6.5%和0,而在正常对照组中分别为95.3%、4.7%和0,两组进行对比差异无统计学意义(P=0.728);布依族高血压组中A与C等位基因频率分别为96.8%、3.2%,而在正常对照组中分别为97.7%、2.3%,两组比较差异也无统计学意义(P=0.732)。汉族高血压组的AA、AC和CC基因型频率分别为87.8%、12.2%和0,而在正常对照组中分别为97.4%、2.6%和0,两组进行对比差异有统计学意义(P=0.022);汉族高血压组中A与C等位基因频率分别为93.9%、6.1%,而在正常对照组中分别为98.7%、1.3%,两组比较差异有统计学意义(P=0.025),高血压组的AC基因型与C等位基因频率显著增高。结论:在贵州地区,AT1R基因A1166C多态性与布依族人群的EH无显著相关性,而与汉族人群的EH具有显著相关性,AC基因型和C等位基因可能是高血压发生的危险因素。     

过氧化物酶体增殖物激活受体γ2基因Pro12Ala多态性与宁夏回、汉族原发性高血压的关系

目的:探讨宁夏地区回、汉族原发性高血压(EH)人群与过氧化物酶体增殖物激活受体γ2(PPARγ2)基因Pro12Ala多态性的关系及其相关危险因素。方法:应用病例-对照研究方法,选取宁夏回族EH患者146例(回EH组)、血压正常者112例(回NT组),汉族EH患者163例(汉EH组)、血压正常者178例(汉NT组),采用多聚酶链式反应结合限制性片段长度多态性技术进行PPARγ2基因Pro12Ala多态性的检测,分析此多态位点不同基因型及等位基因频率在宁夏地区回、汉族人群中的分布。结果:(1)回族:回EH组PP、PA和AA基因型频率为85.62%、13.70%、0.68%,回NT组中分别为90.18%、9.82%、0(回NT组中未发现AA型),差异无统计学意义(P>0.05);P与A等位基因频率在回EH组中为92.47%和7.53%,回NT组中为95.09%和4.91%,差异亦无统计学意义(P>0.05)。(2)汉族:汉EH组PP、PA和AA基因型频率为84.05%、15.34%、0.61%,汉NT组为88.76%、11.24%、0(汉NT组中亦未发现AA型);P与A等位基因频率在汉EH组中为91.72%和8.28%,在汉NT组中为94.38%和5.62%,差异无统计学意义(P>0.05)。(3)二项逐步logistic回归:回、汉族NT组间基因型、等位基因频率差异无统计学意义(P>0.05);汉族、体质指数(BMI)、血糖(GLU)、尿酸(UA)、总胆固醇(TC)、低密度脂蛋白(LDL-C)为EH的独立危险因素,高密度脂蛋白(HDL-C)为保护因素。结论:PPARγ2基因Pro12Ala多态性与宁夏地区回、汉族EH人群发病无相关性;此多态性在宁夏回、汉族人群间无种族差异性。     

白细胞介素-1F7基因单核苷酸多态性对强直性脊柱炎易感性与病情的影响

目的 探讨白细胞介素(IL)-1F7基因rs3811047位点单核苷酸多态性(SNP)对强直性脊柱炎(AS)易感性和临床表现型的影响.方法 收集AS患者158例和同期健康献血人群181名,采用连接酶检测反应(LDR-PCR)方法检测IL-1F7基因rs3811047位点SNP,分析其等位基因频率及基因型频率在AS和对照组中的分布,并比较不同基因型AS患者间临床表现型的差别.结果 AS患者和对照人群中rs3811047位点A等位基因频率(12.03%,17.68%)和G等位基因频率(87.97%,82.32%)的分布差异有统计学意义(x2=4.2204,P=0.0399);AA,AG,GG基因型频率在AS中分别为0,24.05%,75.95%,与对照组分布(2.76%,29.83%,67.41%)相比,差异亦有统计学意义(x2=6.2675,P=0.043).AG基因型的AS患者中人类白细胞抗原(HLA)-B27阳性率为70.27%(26/37),明显低于GG基因型AS中HLA-B27的阳性率94.23%(98/104),差异有统计学意义(x2=2.168,P=0.030);其红细胞沉降率和C反应蛋白水平明显亦低于GG基因型组(t=2.971,P=0.013;t=3.300,P=0.001).结论 安徽籍汉族人群AS易感性与IL-1F7基因rs3811047位点SNP有关,其基因型对AS的临床表现型有影响,携带A等位基因患者的炎症表现轻于不携带A等位基因的患者.     

TBX5基因rs3825214位点多态性和心房颤动的相关性

目的探讨TBX5基因多态性与心房颤动的相关性。方法房颤患者100例(房颤组)和非房颤患者(对照组)107例进行TBX5基因rs3825214单核苷酸多态性和房颤的关联研究。所有患者均采集外周血提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检查患者TBX5基因rs3825214多态性的基因型和等位基因分布。结果 TBX5基因rs3825214位点在入选人群中存在多态性,分别为GG、AG和AA型,其基因型频率在房颤组和对照组分别依次为28.0%,60.0%,12.0%和15.9%,50.5%,33.6%。GG基因型在房颤组的频率分布显著高于对照组(P=0.035),AA基因型在房颤组的频率分布明显低于对照组(P<0.001)。G和A等位基因频率在房颤组和对照组分别为56.0%,44.0%和41.1%,48.9%,G和A等位基因频率在两组间的差异有统计学意义(P=0.001)。结论 TBX5基因rs3825214位点多态性与房颤的发生有相关性,G等位基因可能是房颤的易感基因,GG基因型可能增加了房颤发生的危险性。     

A coding polymorphism of the kallikrein 1 gene is associated with essential hypertension: a tagging SNP-based association study in a Chinese Han population

OBJECTIVE: The aim of this study was to investigate the association between common variants in the human tissue kallikrein 1 (KLK1) gene and susceptibility to essential hypertension in Chinese Han. METHODS: A tagging single nucleotide polymorphism (tSNP) approach was used for a case-control study in 2411 patients with essential hypertension and 2348 controls. All DNA samples and clinical data were collected from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA). RESULTS: Based on the HapMap data of Han Chinese in Beijing (CHB) population, two non-synonymous polymorphisms, namely rs5517 (Glu162Lys) and rs5516 (Gln121Glu), were selected as tSNPs which could efficiently tag eight SNPs of the KLK1 gene with R larger than 90% for both haplotypes and single locus. Significant differences were found between groups for frequencies of rs5517 A allele (42.48% in cases versus 39.32% in controls, P=0.0019) and AA genotype [adjusted odds ratio (OR)=1.25 for AA versus AG/GG, P=0.0067]. The haplotype composed of the rs5517 A and rs5516 G allele significantly increased the risk of hypertension, with adjusted OR of 1.12 [95% confidence interval (CI), 1.04-1.28, P=0.0377] when compared with the common haplotype G-C. Diplotype analysis also showed a significant association between the diplotype of AG-AC and essential hypertension (OR=1.34, 95% CI, 1.07-1.68, P=0.0096). CONCLUSIONS: The present study suggested that rs5517 in the KLK1 gene was significantly associated with essential hypertension in a Chinese Han population.     

血管紧张素原基因启动子区域单核苷酸多态与高血压并发冠心病的关系

目的　研究在中国南方汉人群中 ,血管紧张素原基因 (angiotensinogen ,AGT)启动子区域 2 17位和 2 0位上的二种单核苷酸多态与高血压病 (EH)并发冠心病的关系。方法　运用多重SNaPshot反应 ,对 2 0 5例EH并发冠心病患者、185例EH患者和 185名健康对照者进行G 2 17A和A 2 0C多态基因分型。结果　G 2 17A多态的基因型分布在EH并发冠心病组 (AA =8、AG =71、GG =12 6 )和对照组 (AA =8、AG =37、GG =14 0 )之间有显著性差异 (P =0 0 0 5 ) ;A、G等位基因频率与对照组相比亦有显著性差异 (A 2 1 2 2 %、G 78 78%比A 14 32 %、G 85 6 8% ,P =0 0 12 ) ;A 2 0C多态的基因型分布 (CC、AC、AA)及C、A等位基因频率在二组间的差异无显著性 (分别为CC =5、AC =4 9、AA =15 1比CC =2、AC =6 1、AA =12 2 ,P =0 0 97;C 14 39%、A 85 6 1%比C 17 5 7%、A 82 4 3% ,P=0 2 2 6 )。在男性EH并发冠心病组中 ,G 2 17A和A 2 0C多态的基因型分布及其等位基因频率与对照组相比均有显著性差异 (G 2 17A :AA =7、AG =5 3、GG =86比AA =6、AG =2 8、GG =97,P =0 0 2 2 ;A 2 2 95 %、G 77 0 5 %比A 15 2 7%、G 84 73% ,P =0 0 2 2。A 2 0C :CC =3、CA =2 7、AA =116比CC =2、CA =4 3、AA =86 ,P =0 0 2 3;C 11 30 %     

内皮型一氧化氮合酶基因G894T多态性与新疆维吾尔族原发性高血压的关联研究

目的探讨新疆维吾尔族人群内皮型一氧化氮合酶基因(endothelialnitricoxidesynthasegene,eNOS)第7外显子894G→T多态性与原发性高血压(essentialhypertension,EH)之间的关系。方法应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对新疆地区375例EH患者(EH组)及正常血压者414例(NT组)的eNOS第7外显子894位进行基因分型,并采用生化技术测定其空腹血糖、血浆胆固醇、甘油三酯、胆红素,测定体重指数等水平。结果(1)eNOS基因第7外显子894G→T多态性符合Hardy-Weinberg平衡;GG、GT、TT基因型频率在维吾尔族EH患者及正常人群中分布分别为56.5%、28.3%、15.2%和65.9%、22.5%、11.6%,T等位基因频率分别为29.33%和22.83%,该位点各基因型频率与等位基因频率在维吾尔族高血压组和正常对照组中差异有统计学意义(P<0.05,OR=2.97,95%可信区间1.393~6.358)。(2)在EH组中GT+TT基因型者的收缩压[(171.36±22.30)mmHg,1mmHg=0.133kPa]和舒张压[(103.63±13.22)mmHg]均显著高于GG基因型者[(158.07±20.85)mmHg和(89.90±10.39)mmHg],两组比较差异有统计学意义(P<0.01)。结论eNOS基因第7外显子894G→T变异可能是中国新疆维吾尔族人群EH的一种遗传易感性指标。     

血管紧张素Ⅱ-2型受体A1675G基因多态性与家族性高血压的相关性研究

目的:探讨血管紧张素Ⅱ-2型受体(AT2R)A1675G基因多态性与家族性高血压的相关性。方法:选取高血压家系(高血压家系组)30个(120例受试者)和正常血压家系(正常血压家系组)29个(115例受试者)进行对照研究。采用聚合酶链式反应(PCR)技术分析AT2R A1675G基因多态性;采用酶联免疫吸附试验(ELISA)技术测定AT2R的表达。结果:高血压家系组AA型、AG型频率分布(53.3%、16.7%)比正常血压家系组(38.2%、12.2%)均升高,GG型频率分布(30.0%vs 49.6%)降低,高血压家系组比正常血压家系组等位基因A的频率分布(61.7%vs 44.3%)升高、G的频率分布(38.3%vs 55.7%)降低,差异均有统计学意义(P<0.05)。高血压家系组与正常血压家系组比较,AG型患者和GG型患者的AT2R表达浓度[(43.4±12.4)ng/ml vs(52.4±11.6)ng/ml,(53.2±15.3)ng/ml vs(65.9±16.9)ng/ml]均降低,差异有统计学意义(P<0.05)。结论:AT2R基因A1675G多态性与家族性高血压有明显相关性;G基因和AT2R在家族性高血压的发病中起着重要的保护作用。     

A-6G variant of the angiotensinogen gene and essential hypertension in Han, Tibetan, and Yi populations.

To investigate the relationship between the A-6G variant in the promoter of the angiotensinogen gene and essential hypertension in Han, Tibetan, and Yi populations. All patients with essential hypertension were selected by WHO criteria. And the polymorphism of the A-6G variant was determined by PCR/RFLP. The data were analyzed by t test and chi2 test. There was no significant difference in the genotype or allele frequencies between normotensives and hypertensives in the Han, Tibetan, and Yi populations, respectively. However, when the subjects were divided into male and female subgroups, the genotype distributions among hypertensives and normotensives of the Tibetan female group were as follows: AA, 37% vs. 48%; AG, 52% vs. 48%; GG, 11% vs. 4%, respectively and the frequency of the G allele was significantly higher in hypertensives than in normotensives in the Tibetan female group (0.37 vs. 0.28, chi2=4.25, p<0.05). In addition, we observed that there was a significant difference between the Han and Tibetan normotensive groups in the distributions of the allele and genotype frequencies of the A-6G variant. The frequency of the G allele was 0.29 and 0.17 in the Tibetan normotensive and Han groups, respectively (p<0.001). The G allele of the A-6G variant was associated with hypertension in the Tibetan females, but not in the Yi or Han females. And we confirmed that there was a significant difference in the prevalence of the allele frequencies of the A-6G variant between the Han and Tibetan normotensive groups.     

The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population

Proprotein convertase subtilisin/kexin-type 1 (PCSK1) is a prohormone convertase that has an important role in prohormone maturation including the process of prorenin to renin. We studied the association of the PCSK1 single-nucleotide polymorphism (SNP) rs6235 (encoding an S690T substitution) with essential hypertension (EH), obesity and related traits in the Han Chinese population. The rs6235 SNP in the PCSK1 gene was investigated using a case-control study design, with 1034 hypertension cases and 1112 normotensive controls. In this study, the rs6235 SNP was significantly associated with hypertension (OR=1.26, 95% CI (1.10-1.46), P=0.001); the odds ratios of GC vs GG and CC vs GG were 1.30 (95% CI (1.06-1.58), P=0.010) and 1.55 (95% CI (1.12-2.13), P=0.007), respectively. In the controls, the C-allele was associated with increased systolic (P=0.010) and diastolic (P=0.010) blood pressure levels. In all of the EH patients and EH patients without a history of renin-angiotensin-aldosterone (RAA) system-related antagonists, the C-allele was associated with increased plasma renin activity (P=0.00004 and 0.002, respectively) and aldosterone levels (P=0.018 and 0.005, respectively). The C-allele was also associated with increased body mass index (BMI) (P=0.010) in the normotensive controls. In conclusion, the PCSK1 SNP rs6235 was associated with EH and blood pressure in the Han Chinese population, and this association may be mediated by the SNP's effect on RAA levels. rs6235 was also associated with BMI in this population.     

Association study of calcitonin-receptor-like receptor gene in essential hypertension

BACKGROUND: Plasma adrenomedullin (ADM) concentrations increase in patients with hypertension, renal failure, heart failure, essential pulmonary hypertension, myocardial infarction, endotoxin shock, and many other conditions. The ADM receptor is a complex molecule that consists of calcitonin-receptor-like receptor (CRLR) and receptor activity-modifying protein 2 (RAMP2). Because CRLR determines the binding specificity of ADM, the CRLR gene is thought to be a susceptibility gene of hypertension. However, studies have not yet defined the relationship between the CRLR gene and hypertension. The aim of the present study was to investigate relationships between single-nucleotide polymorphisms (SNP) in the human CRLR gene and essential hypertension (EH) in a Japanese population. METHODS: We selected four SNP in the human CRLR gene (rs3771073, rs696574, rs698590, and rs1528233), and we performed a genetic association study in 209 EH patients and 216 age-matched normotensive (NT) individuals. RESULTS: There was no significant difference in overall distribution of genotypes or alleles of any of the SNP between the EH and NT groups. However, among women, the T allele of the SNP rs696574 (C --> T, in intron 6) was significantly more frequent in EH subjects than in NT subjects (P = .032). CONCLUSION: Our findings suggest that rs696574 can be used as a genetic marker of EH in women.     

Association of GLUT4 gene variants with HbA1c level in Japanese men

GLUT4 is a major mediator of glucose removal from the circulation and a key regulator of whole-body glucose homeostasis. Recent studies in south Indian populations revealed that haplotypes of the GLUT4 gene associated with type 2 diabetes. A total of 734 middle aged apparently healthy Japanese men were recruited from two separate occupational cohorts from Kanagawa and Kyoto. Participants were genotyped for GLUT4 variants, rs5418 (A/G) and rs2654185 (C/A), and association with HbA1c level was analyzed. The HbA1c value was determined by JDS method which is 0.4% lower than NGSP value. The G allele carrier of rs5418 and A allele carrier of rs2654185 associated with significantly higher HbA1c level (AG + GG vs. AA carriers; 5.2 ± 0.8 vs. 4.9 ± 0.4, P < 0.002, and AA + AC vs. CC; 5.2 ± 0.9, vs. 4.9 ± 0.4, P < 0.002, respectively). G allele, AG + GG genotype of rs5418 and A allele, AA + AC genotype of rs2654185 showed a significant association with higher HbA1c (β = 0.215, P = 0.026; β = 0.215, P = 0.026; β = 0.190, P = 0.042; β = 0.190, P = 0.042, respectively). These two SNPs are in high linkage disequilibrium (LD) of r(2) = 0.67. In haplotype analysis, four haplotypes were estimated. HbA1c is significantly higher in the most frequent GA haplotype compared with the second frequent AC haplotype (5.2% vs. 5.1%, P = 0.004). Genetic variations, rs5418 and rs2654185 in GLUT4 gene are associated with HbA1c level in Japanese men.     

Association between fatty acid binding protein 3 gene variants and essential hypertension in humans

BACKGROUND: We have earlier identified a quantitative trait locus (QTL) on rat chromosome 5 that appears to be primarily under the control of the sympathetic nervous system. Because sympathetic overactivity is related to both hypertension and insulin resistance, FABP3 is a candidate gene for the link between this QTL and blood pressure regulation. In this study, therefore, we explored the role of FABP3 genetic variations in essential hypertension (EH) in humans. METHODS: We evaluated two single-nucleotide polymorphisms (SNPs) (rs2279885 and rs2271072) in 758 patients with EH and 726 controls. Polymorphism-related genotypes were determined using TaqMan assays, while haplotypes were estimated from the genotype data. RESULTS: The frequencies of occurrence of the G allele of rs2279885 and the C allele of rs2271072 were significantly higher in subjects with EH than in normotensive (NT) subjects (P = 0.0339, P = 0.0209, respectively). However, the genotype distributions did not exhibit any significant differences. CONCLUSION: We found an association between FABP3 gene polymorphisms and EH in a Japanese population, thereby suggesting that FABP3 is a susceptibility locus for EH.