AGTRLl基因变异与原发性高血压

目的探讨AGTRLl基因多态性及单倍型与原发性高血雎的相关关系。方法选取上海地区汉族人群原发性高血压家系248家共1042人为研究样本，应用TaqMan MGB荧光探针定量PCR技术，检测各样本．4GTRLl基因启动子区rs10501367和rs7119375基因多态性分型。应用FBAT软件预测陔两个多态性位点可能组成的单倍型．并对多态位点及单倍型与原发性高血压的关系进行分析。结果所选位点基因型频率在研究人群中的分布均符合Hardy—Weinberg遗传平衡定律：应用FBAT（显性模型遗传模式）统计分析结果显示rs10501367、rs7119375及其组成的单倍型G—G与原发性高血联相关。其中rs7119375的G等位基因（Z=2．390，P=0．017）和rs10501367的G等位基因（Z=2．177．P=0．030）可以由亲代下传给患病子代。结论位于AGTRLl基因启动子区的多态性位点与上海地区汉族人群原发性高血乐存在相关关系，单倍型G—G可能对高血压的发病有贡献．     

BTLA基因多态性与慢性HBV感染家系的遗传易感性

目的:探讨中国汉族人群T、B淋巴细胞弱化因子(Band Tlymphocyte attenuator,BTLA)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与慢性乙型肝炎病毒(hepatitis Bvirus,HBV)感染家系的遗传易感性.方法:采用SNaPshot技术检测核心家系中慢性HBV感染者及其家庭成员BTLA基因rs2633562和rs2952323 SNP位点的多态性,采用家系内关联性分析(family-based association test,FBAT)基因型、等位基因及单体型分布频率.结果:单位点S N P遗传关联性分析显示,BTLA基因rs2952323位点多态性与慢性HBV感染的遗传易感有显著的相关性,G/G基因型Z=2.731,P=0.006308,G等位基因在附加遗传模型中Z=2.689,P=0.0007174,隐性遗传模型中Z=2.731,P=0.006308.传统的传递不平衡检验(transmission/disequilibrium test,TDT)和同胞对传递不平衡检验(siblings disequilibrium test,SDT)分析显示无主要的优势等位基因A、C或G从杂合的父母传递给患病子女,P=1.000000,P=0.151590.FBAT单倍型分析结果显示rs2633562-A/rs2952323-G(70.0%)存在优势单倍型传递给患病子女或者患病同胞,在附加遗传模型Z=3.093,P=0.001979,隐性遗传模型中Z=2.825,P=0.004721.结论:BTLA基因位点多态性可能与家族聚集性慢性HBV感染的遗传易感性相关.     

环氧化物水解酶基因多态性与新疆哈萨克族、汉族原发性高血压的相关性研究

目的 探讨环氧化物水解酶( EPHX2)基因rs751141位点基因多态性与新疆哈萨克族、汉族原发性高血压之间的相关性.方法 分别选择新疆哈萨克族267例,汉族原发性高血压患者368例,同时选取哈萨克族、汉族正常对照组284例和348例,用Hardy-Weinberg平衡检验样本群体代表性,采用TaqMan探针法对EPHX2基因rs751141位点基因多态性进行检测.结果 新疆汉族原发性高血压组rs751141G/A多态位点GA+ AA基因型的分布频率(40.2％)明显低于正常对照组(52.0％),差异具有统计学意义(P＜0.01),而新疆哈萨克族原发性高血压组与正常对照组中rs751141G/A基因多态性比较差异均无统计学意义(P＞0.05).结论 EPHX2基因rs751141 G/A等位基因多态性与新疆哈萨克族原发性高血压无显著相关性,EPHX2基因rs751141G/A等位基因多态性与新疆汉族原发性高血压均显著相关,EPHX2基因rs751141位点的A等位基因可能是新疆汉族原发性高血压病的独立的保护因子.     

血浆激肽释放酶B1和缓激肽受体B2基因多态性及体质指数与老年原发性高血压的关系

目的 探讨血浆激肽释放酶B1(KLKB1)和缓激肽受体B2(BDKRB2)基因多态性及体质指数(BMI)与老年原发性高血压的关系.方法 应用限制性片段长度多态性-聚合酶链反应(RFLP-PCR)的方法检测103例重庆地区老年原发性高血压患者和103例老年正常对照者的KLKB1基因rs2304595和BDKRB2基因rs1799722多态性.结果 与正常对照组相比,老年原发性高血压组收缩压和体质指数均高于正常对照组(P<0.05);老年原发性高血压男性亚组rs2304595位点GG基因型和G等位基因频率无统计学差异(P>0.05);老年原发性高血压女性亚组GG基因型和G等位基因频率有显著统计学差异(P<0.01);而rs1799722位点的基因多态性无统计学差异(P>0.05).Logistic回归分析表明:rs2304595位点GG基因型和BMI均不同程度的增加老年原发性高血压的发病风险,二者之间存在协同作用.结论 KLKB1基因rs2304595位点GG基因型和G等位基因可能是老年汉族女性原发性高血压发病的一个遗传标志,并且GG基因型和BMI对老年原发性高血压发病存在协同作用;而BDKRB2基因rs1799722基因多态性与老年原发性高血压发病的关系尚不明确.     

PKBα/Akt1基因多态性与2型糖尿病的相关性研究

目的 研究蛋白激酶B α亚型(PKBα,也称Akt1)基因单核苷酸多态性(SNP)与上海地区汉族人群2型糖尿病易感性的关系.方法 利用等位基因特异PCR技术对460例2型糖尿病患者及444名正常对照者(NC组)Akt1基因3个标签SNP位点rs2494743、rs2494738和rs3001371进行基因分型.结果 位点rs2494738和rs3001371的基因型分布在糖尿病组和NC组之间呈现显著性差异(均P＜0.01);rs2494738和rs3001371等位基因频率在2型糖尿病组和NC组的分布也呈现显著性差异(均P＜0.01);rs2494738的多态性与2型糖尿病发生风险呈等位基因计量效应关系.但rs2494743基因型和等位基因分布在NC组与2型糖尿病组中差异无统计学意义.单倍型分析结果显示3个单倍型频率在2型糖尿病组和NC组之间也存在显著差异(均P＜0.01).结论 在上海地区的汉族人群中,Akt1基因可能是2型糖尿病的易感基因之一;其SNP位点rs2494738和rs3001371变异可能与2型糖尿病发病相关.     

白细胞介素-23R单核苷酸多态性与中国汉族人群强直性脊柱炎的关联分析

目的 研究白细胞介素(IL)-23R基因单核苷酸多态性(SNPs)与中国汉族人群强直性脊柱炎(AS)的相关性.方法 选取IL-23R基因SNPs位点rs11209026、rs1343151和rs11209032以及在物理距离上与它们相近的另外3个SNPs位点进行检测;采用聚合酶链反应(PCR)直接测序法进行基因分型;采用SPSS 13.0软件进行Hardy-Weinberg平衡、基因型和等位基因频率分析;采用SHEsis软件进行连锁不平衡和单倍型分析.结果 rs11209032位点的各基因型分布和rs6677188位点的各基因型与等位基因频率分布在病例组和对照组差异有统计学意义(P<0.01);rs6677188和rs11209032存在连锁不平衡关系(D'=0.925,r2=0.561);单倍型GAC和单倍型GTC在AS患者和健康对照者中的分布差异有统计学意义(p<0.01),其中单倍型GAC在AS患者高,而单倍型GTC在健康对照者高.结论 IL-23R基因单核苷酸多态性与中国汉族人群AS相关,IL-23R基因可能是AS的一个易感基因.     

Apelin/APJ通路基因多态性与代谢综合征及apelin水平的关系

目的探讨福建地区apelin/APJ通路基因多态性与代谢综合征(MS)及其相关组分以及血浆apelin的关系。方法纳入2015年2月至2016年2月福建医科大学附属第一医院心血管内科住院患者1018例,其中MS组457例,非MS组561例,酶联免疫吸附试验(ELISA)法检测血浆apelin36浓度,连接酶检测反应(LDR)探针法检测apelin/APJ基因分型。比较两组间等位基因频率分布情况、不同等位基因分组中各MS组分以及apelin浓度的差异性。结果男性MS受试者apelin基因rs3115757位点的C突变等位基因频率明显高于非MS组(P0.05);女性MS受试者APJ基因rs7119375位点的A突变等位基因频率明显低于非MS组(P0.05);Logistic回归分析显示,调整年龄、吸烟、饮酒后,女性携带rs7119375 A突变等位基因者较携带野生等位基因者患MS的风险减少35.4%(OR=0.646,P0.05)。男性APJ位点rs7119375A、rs10501367T突变等位基因组受试者的空腹血糖高于野生等位基因组(均P0.05)。调整年龄、腰围、吸烟、饮酒后,Logistic回归分析显示男性携带rs7119375 A、rs10501367T突变等位基因是血糖异常的独立相关因素(OR=1.374、1.443,均P0.05)。男性APJ位点rs10501367不同基因型间的血浆apelin浓度差异有统计学意义(P0.05),携带TT突变基因型个体的血浆apelin浓度小于CC基因型和CT基因型(均P0.05),而携带CC基因型个体的血浆apelin浓度与CT基因型差异无统计学意义(P0.05)。结论 Apelin/APJ通路基因多态性与MS及血糖异常以及血浆apelin水平明显相关,并且存在性别差异。     

内皮型一氧化氮合成酶基因rs3918188位点多态性与汉族原发性高血压的相关性

目的探究内皮型一氧化氮合成酶基因rs3918188位点多态性与汉族原发性高血压的相关性。方法研究对象为2013年1月至2017年4月泰州市人民医院收治的262例原发性高血压患者(高血压组)及同期的260例健康体检者(对照组),均采用TaqMan探针法检测一氧化氮合成酶基因rs3918188位点多态性,对比分析不同基因型及等位基因频率的分布情况。结果两组受检者的eNOS基因rs3918188位点基因型分布符合Hardy-Weinberg平衡定律,两组间GG、AG、AA基因型及A、G等位基因频率分布对比无显著差异(P0.05)。结论 eNOS基因rs3918188位点多态性可能与汉族原发性高血压无明显相关性。     

肺结核患者肿瘤坏死因子-α基因多态性的研究

目的通过病例-对照研究,探讨肿瘤坏死因子-α(TNF-α)基因启动子区-238A/G、-308A/G位点单核苷酸多态性(SNP)与肺结核病的关系。方法采用序列特异性引物PCR(PCR-SSP)及测序技术检测深圳地区汉族人群肺结核患者200例及健康对照者197例TNF-α启动子区-238A/G、-308A/G位点基因多态性。采用直接计数法计算各组基因型频率及等位基因频率,并进行χ2检验;采用SHEsis软件进行单倍型分析。以P值0.05为具有统计学意义。结果2组人群TNF-α启动子区-238A/G、-308A/G位点基因型及等位基因分布频率差异无统计学意义(P0.05);两位点各种单倍型在2组间分布差异无统计学意义(P0.05)。结论TNF-α启动子区-238、-308位点基因多态性与中国汉族人群肺结核病易感性未见关联。     

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。     

Hypercontrols in genotype-phenotype analysis reveal ancestral haplotypes associated with essential hypertension

The angiotensinogen gene locus has been associated with essential hypertension in most populations analyzed to date. Increased plasma angiotensinogen levels have been proposed as an underlying cause of essential hypertension in whites; however, differences in the genetic regulation of plasma angiotensinogen levels have also been reported for other populations. The aim of this study was to analyze the relationship between angiotensinogen gene polymorphisms and haplotypes with plasma angiotensinogen levels and the risk of essential hypertension in the Mexican population. We genotyped 9 angiotensinogen gene polymorphisms in 706 individuals. Four polymorphisms, A-6, C4072, C6309, and G12775, were associated with increased risk, and the strongest association was found for the C6309 allele (χ(2)=23.9; P=0.0000009), which resulted in an odds ratio of 3.0 (95% CI: 1.8-4.9; P=0.000006) in the recessive model. Two polymorphisms, A-20C (P=0.003) and C3389T (P=0.0001), were associated with increased plasma angiotensinogen levels but did not show association with essential hypertension. The haplotypes H1 (χ(2)=8.1; P=0.004) and H5 (χ(2)=5.1; P=0.02) were associated with essential hypertension. Using phylogenetic analysis, we found that haplotypes 1 and 5 are the human ancestral haplotypes. Our results suggest that the positive association between angiotensinogen gene polymorphisms and haplotypes with essential hypertension is not simply explained by an increase in plasma angiotensinogen concentration. Complex interactions between risk alleles suggest that these haplotypes act as "superalleles."     

Angiotensin II type 2 receptor gene polymorphisms and cardioprotective role in essential hypertension

Angiotensin II type 2 receptor (AT2R) has been proved to be involved in a cardioprotective role, but only a few studies have addressed the association of AT2R-genotype with this role. Whether the AT2R genotype is associated with hypertension is controversial. The aim of the study was to explore the information of single-nucleotide polymorphisms (SNPs) of the AT2R gene in Cantonese, an essential subpopulation of Chinese, and study the association of SNPs in the AT2R gene with hypertension, and to detect the genotypes that indicate a cardioprotective role. Two hundred and sixty-two patients with essential hypertension and 75 normotensive subjects were enrolled for a case-control study. All of the subjects were Cantonese. Sixteen individuals were chosen to sequence the AT2R gene and 16 SNPs were acquired. G/T rs5193 and G/A rs5194 were two SNPs in the 3′ untranslated region which were focused on the association of the AT2R-genotype and phonotype. Polymerase chain reaction was performed to amplify the fragment spanning the two SNPs. Genotype and haplotype were identified by dot blot hybridization. Four haplotypes in males (G-G, G-A, T-A, T-G) and eight haplotype combinations in females (G-G/G-G, G-A/G-A, G-G/G-A, G-G/T-A, G-G/T-G, T-A/T-A, T-G/T-G, and T-A/T-G) were detected. G-G and G-A haplotype were predominant, while T-A and T-G were rare in Cantonese. None of these was associated with hypertension. T-A carriers with essential hypertension indicated lower levels of left ventricular mass (LVM) and left ventricular hypertrophy index (LVHI). The levels of LVM and LVHI were still significantly lower in T-A carriers with hypertension adjusted for age or body mass index for men and women separately. No episodes of coronary heart disease and heart failure were detected in T-A carriers with hypertension. Haplotypes of G/T rs5193-G/A rs5194 are not associated with essential hypertension. Among these haplotypes, T-A may be implicated in a cardioprotective role to protect hypertense subjects from left ventricular hypertrophy.     

Implication of an AGT haplotype in a multigene association study with pregnancy hypertension

Several association studies of candidate genes for preeclampsia and essential hypertension have led to discordant results, partly because of small sample sizes. Using a large population-based sample of pregnant women, we conducted an association study of 10 polymorphisms in 9 genes and aimed (1) to validate 10 published associations with preeclampsia or essential hypertension, (2) to investigate candidate polymorphisms previously associated with preeclampsia for association with essential hypertension and similarly with polymorphisms previously associated with essential hypertension. From a prospective sample of 3391 nulliparous French Canadian pregnant women, we identified 180 cases of preeclampsia, 203 cases of essential hypertension that were matched with normotensive control subjects (n=310 and 357, respectively). Polymorphisms were genotyped by allele-specific PCR. Among our candidate polymorphisms, the Met allele of Thr174Met of AGT was associated with preeclampsia (P=0.0033). Haplotype analysis revealed that the A-Met-Thr (G1035A-Thr174Met-Met235Thr) haplotype was associated with a 2.1-fold increased risk of preeclampsia (95% CI, 1.4 to 3.4; P=0.0008). In conclusion, we observed a strong association between a specific AGT haplotype and preeclampsia in our population, without replicating previous published associations with either preeclampsia or essential hypertension. Our data support a role for AGT in genetic susceptibility to preeclampsia.     

Ⅰ型血管紧张素Ⅱ受体相关蛋白基因多态性与高血压的相关性研究

目的探讨Ⅰ型血管紧张素Ⅱ受体相关蛋白(AT1 receptor-associated protein,ARAP1)基因的常见多态rs2787594,rs11795066,rs13298677和rs4837129与高血压之间的关联关系。方法选择503例高血压病例和490例年龄、性别相匹配的健康对照。所有个体均为中国北方汉族人。采用多聚酶链式反应一限制性片段长度多态性(PCR-RFLP)方法进行基因型鉴定。结果校正协变量前后,所有SNPs均与高血压无关联。单体型分析也没有发现与高血压关联的单体型。应用线性回归模型校正年龄和性别的作用,比较不同基因型个体的体重指数(BMI)、血糖和血脂水平的差异。rs2787594多态CC纯合子与升高的血糖水平显著关联(CC/TT+TC,6.09+0.24vs.5.54+0.08mmol/L,P=0.0296)。在显性模型中,rs11795066 A等位基因显著升高了个体的BMI水平(GA+AA/GG,24.81±0.29vs.24.07±0.19kg/m2,P=0.0331)。rs13298677多态G等位基因与较低的BMI水平(GG/GA+AA,22.84±0.74vs.24.37±0.16kg/m2,P=0.0438)以及TG水平(GG+GA/AA,1.34±0.06vs.1.50±0.05mmol/L,P=0.0413)显著关联。结论 ARAP1基因4个SNPs与高血压无显著关联,但与对照个体的血脂、血糖和BMI关联,该基因变异可能影响了我国人群血脂、血糖的代谢。     

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.     

NOD2/CARD15 , ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn’s disease

AIM: To assess whether the polymorphisms of NOD2/ CARD15 , autophagy-related 16-like 1 (ATG16L1 ), and interleukin-23 receptor (IL23R ) genes play a more critical role in the susceptibility of childhood-onset than in adult-onset Crohn’s disease (CD). METHODS: Polymorphisms R702W, G908R, and 3020insC of NOD2/CARD15 ; rs2241880 A/G of ATG16L1 , and rs11209026 (R381Q) of IL23R gene were assessed in 110 childhood-onset CD, 364 adult-onset CD, and 539 healthy individuals. Analysis of polymorphisms R702W, G908R, ...     

Interferon-induced protein with tetratricopeptide repeats 1(IFIT1) polymorphism as a genetic marker of cerebral malaria in Thai population

Objective: To know whether the effect of interferon-induced protein with tetratricopeptide repeats(IFIT) 1 polymorphism influences the susceptibility of cerebral malaria outcome.Methods: Case-control association study was performed among 314 Thai patients(110 with cerebral malaria and 204 with uncomplicated malaria) infected with Plasmodium falciparum.Genotyping for five tag-single nucleotide polymorphisms of IFIT1 was performed by endpoint genotyping.Results: Genotype frequencies of all tag-SNPs(single nucleotide polymorphisms)showed no association with malaria outcome.However,C allele of rs11203109 was associated with the protection from cerebral malaria(OR=0.62,95% CI=0.38-0.99,P=0.048).Two single nucleotide polymorphisms(rs5786868 and rs57941432) were in linkage disequilibrium with rs11203109.Conclusions: This suggests that our associated single nucleotide polymorphism(rs11203109) might be a genetic marker of cerebral malaria progression in the Thai population.     

Beta2 adrenergic receptor gene Arg16Gly polymorphism is associated with therapeutic efficacy of benazepril on essential hypertension in Chinese

BACKGROUND: There is considerable variability in individual response to antihypertensive agents. The reason for this is not known, but may be related to individual genetic variability. This study examined whether the therapeutic efficacy of benazepril on essential hypertension is modified by beta2 adrenergic receptor gene (ADRB2) Arg16Gly (R16G) polymorphism. METHODS AND RESULTS: We conducted a family-based study of 321 and 610 hypertensive subjects from Yuexi and Huoqiu Counties of Anhui, China, respectively. Both systolic and diastolic blood pressures (SBP and DBP) before and after a 15-day benazepril treatment were measured. ADRB2 R16G genotypes were determined for all subjects. ADRB2 G16 allele frequency was found to be 41.0% and. 47.4% in Huoqiu and Yuexi, respectively. In Yuexi family-based association test (FBAT) revealed that the G16 allele was associated with a greater DBP decrease in response to a 15-day benazepril treatment (Z = 2.12, P = 0.03), and the data were consistent with a dominant inheritance model. A similar trend was observed in Huoqiu Chinese, but the magnitudes of effects were smaller and did not reach statistical significance. The FBAT results were further confirmed by using a generalized estimating equation model. CONCLUSION: Our family-based study provided the first evidence that ADRB2 R16G polymorphism may play an important role in DBP response to benazepril treatment, although the magnitude of the effect appears to be modified by other risk factors such as plasma lipid and glucose profiles.     

体质量指数和L型钙离子通道α1C基因多态性对小剂量氨氯地平降压疗效的交互作用

目的研究体质量指数(BMI)和L型钙离子通道α1C基因(CACNA1C)单核苷酸多态性(SNP)对小剂量氨氯地平降压疗效的交互作用。方法采用PCR直接测序法对服用以氨氯地平为主要降压药物的原发性高血压患者181例的CACNA1C基因SNPrs1051375、rs2238032、rs2239050、rs2239128等位点进行基因分型。采用多因素方差分析和有序Logistic回归方法分析BMI和SNP对降压疗效的交互作用。结果经多元线性回归方法调整基线血压、年龄、性别、尿酸、三酰甘油、药物等因素后,BMI和rs2238032G/T位点与用药后收缩压降幅均相关(B=-0.612,P=0.044;B=11.818,P=0.037),rs2238032G/T位点与用药后舒张压降幅亦相关(B=12.450,P=0.001)。多因素方差分析显示rs2238032G/T位点基因型与BMI存在交互作用(P<0.05),携带rs2238032G/T位点TT基因型和BMI正常(<25kg/m2)患者对氨氯地平的降压疗效高于携带GT和GG基因型的超重患者。有序Logistic回归分析亦显示出rs2238032G/T位点GT基因型与BMI存在交互作用的趋势(B=0.212,P=0.066)。结论 BMI和CACNA1C基因rs2238032G/T位点基因型对小剂量氨氯地平的降压疗效可能存在交互作用。