Neuregulin 1基因多态性与中国汉族精神分裂症关联分析

目的 探讨Neuregulin 1(NRG1)基因多态性与精神分裂症的关联.方法 在258个中国汉族精神分裂症核心家系(患者及其亲生父母)中,应用实时定量PCR技术检测位于NRGl基因5'端的4个单核苷酸多态(single nucleotide polymorphism,SNP)位点:rs221533(C/T)、rs7820838(C/T)、433E1006 (A/G)和rs3924999(C/T),进行基因分型,应用传递不平衡检测(transmission disequilibrium test,TDT)分析等位基因传递情况,分析该基因与精神分裂症易感性的关联.结果 在258个中国汉族核心家系中,rs221533、433E1006、rs3924999三个SNP均存在有统计学意义的传递不平衡,优先传递的等位基因分别是:C、A、T(rs221533:X2=27.45,P=0.000;433E1006:X2=56.08,P=0.000;rs3924999:X2=10.53,P=0.001).rs7820838未检到不平衡传递(X2=3.31,P=0.081).频率大于1%单倍型进行分析,rs221533-rs7820838-433E1006联合分析,单倍型C/C/G和C/C/A优先传递(C/C/G:X2=5.26,P=45.08;C/C/A:X2=0.026,P=0.000);rs221533-rs7820838-433E1006-rs3924999联合分析,单倍型C/C/G/T、C/C/A/C和C/C/A/T优势传递(C/C/G/T:X2=10.71,P=0.001;C/C/A/C:.)X2=8.83,P=0.006、C/C/A/T:X2=27.00,P=0.000).213个阳性亚型的精神分裂症核心家系中传递不平衡得出基本一致的结果 .结论 Nrg1基因多态性与中国汉族人群精神分裂症存在关联,尤其是支持与阳性亚型精神分裂症存在关联.     

HLA-DRB1等位基因与吉林地区汉族白癜风和寻常型银屑病相关性研究

目的：探讨HLA-DRB1等位基因与吉林地区汉族白癜风和银屑病的相关性。方法：采用聚合酶链反应-序列特异性引物（PCR-SSP）分型技术,对82例汉族白癜风患者和80例寻常型银屑病患者HLA-DRB1等位基因进行检测,与86名汉族健康人群进行对照。结果：①白癜风患者组HLA-DRB1＊07和HLA-DRB1＊12等位基因频率比对照组明显增高（P〈0.05）;②银屑病患者组HLA-DRB1＊07等位基因频率高于对照组,HLA-DRB1＊01等位基因频率低于对照组（P〈0.05）。结论：①HLA-DRB1＊07和HLA-DRB1＊12等位基因可能是吉林地区汉族白癜风的易感基因或与易感基因相连锁;②HLA-DRB1＊07等位基因可能是寻常型银屑病的易感基因,HLA-DRB1＊01可能为寻常型银屑病的保护性基因。     

Association of IL-1 gene complex members with ankylosing spondylitis in Chinese Han population

There are reports of IL-1 complex gene polymorphisms in ankylosing spondylitis (AS; MIM 106300), but the results have been inconsistent among populations. Moreover, few studies examine the association between IL-1 complex gene polymorphisms and clinical symptoms of AS patients. We investigated polymorphisms of IL-1 complex with AS in the Chinese Han population in this study. Chinese Han AS patients and ethnically matched healthy controls were genotyped for five single nucleotide polymorphisms (IL1β+3953, β-511, F10.3, RN.4, RN.6/1) and the IL1RN.VNTR of IL-1 gene cluster. Allele, Genotype and haplotype frequencies were compared between cases and controls by SHEsis software. The frequency of allele C of the marker IL1F10.3 was significantly increased in AS patients versus controls [p = 0.001, odds ratio (OR) = 1.54, 95% confidence interval (CI) = 1.19–1.20; p = 0.002, respectively]. Strong linkage disequilibrium was identified between IL1B-511, IL1B+3953 and RN4 in both patients and healthy controls (D′ > 0.95). Haplotypes of pairs of these markers (6) were also significantly associated with AS. The strongest associations observed was between allele combination B-511-T/B+3953-C/F10.3-C/RN4-T/RN2VNTR-1/RN6.1-C and AS (p = 3.32 × 10⁻⁵, OR = 4.41, 95% CI=2.1–9.3). Clinical manifestation showed week association between RN2VNTR A2 allele and risk of peripheral arthritis (OR = 0.2, 95% CI = 0.07–0.91). The IL-1 gene cluster is associated with AS in Chinese population. This finding provides strong statistical support for the previously observed relationship and indicates possible association between clinical manifestation and genetic factor.     

Association between HLA-DQB1 alleles and susceptibility to coronary artery disease in Southern Han Chinese

Accumulated evidence indicates that polymorphisms in human leukocyte antigens (HLA) are associated with susceptibility to coronary artery disease (CAD). However, whether HLA-DQB1 alleles are correlated with susceptibility to CAD is unclear. In this study, significantly lower frequencies of the allele groups (DQB1*03:01:01G and DQB1*05:03:01G) and the genotypes (DQB1*03:01:01G/DQB1*03:01:01G and DQB1*03:01:01G/DQB1*05:03:01G) were observed in the CAD group compared with that in the controls. However, notably higher frequencies of DQB1*04:01:01G and genotype DQB1*05:01:01G/DQB1*03:01:01G were observed in the CAD patients than in the controls. Further analysis in subgroups showed that DQB1*03:01:01G was present at a significantly lower frequency in both female and male CAD patients compared with the corresponding controls; however, DQB1*04:01:01G was overtly high only in male CAD patients. CAD patients with diabetes showed a negative association with DQB1*03:01:01G and DQB1*05:03:01G and a positive association with DQB1*04:01:01G, DQB1*03:02:01G and DQB1*03:03:02G. Results of logistic regression analysis indicated that DQB1*03:01:01G and DQB1*05:03:01G were significantly associated with reduced susceptibility to CAD, but DQB1*04:01:01G, DQB1*03:02:01G and DQB1*03:03:02G had no correlation with CAD. Together, these findings indicate that CAD in Southern Han Chinese is negatively associated with HLA-DQB1*03:01:01G and DQB1*05:03:01G, and males with HLA-DQB1*04:01:01G are likely to have high risk for CAD.     

组织型激肽释放酶基因多态性与长沙地区汉族人群脑出血的关联研究

目的 分析长沙地区汉族人群脑出血与组织型激肽释放酶(kallikrein 1,KLK1)基因多态性的关系.方法 收集273例散发性脑出血患者和140名正常对照者的外周血标本.采用多重单碱基延伸单核苷酸多态分型技术和DNA测序法检测KLK1基因rs5516及rs5517多态性位点在两组人群中的分布.结果 (1)脑出血组及对照组KLK1基因rs5516多态和等位基因频率分布差异无统计学意义(P>0.05);脑出血组组织型KLK1基因rs5517多态A等位基因频率显著高于对照组(P<0.05).(2)对照组rs5517多态AA及GA基因型携带者舒张压水平显著高于GG基因型携带者(P<0.05);而rs5516位点各基因型亚组间血压水平差异无统计学意义(P>0.05).结论 组织型激肽释放酶基因rs5516多态性与脑出血无关,而组织型激肽释放酶基因rs5517多态性与脑出血存在关联,可能通过影响血压水平而参与脑出血的发生发展.     

Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population

The basement membrane (BM) is an extracellular matrix associated with overlying cells and is important for proper tissue development, stability, and physiology. COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable phenotypes that might be related to cerebral palsy (CP). We postulated, therefore, that variations in the COL4A1 gene might play an important role in the etiology of CP. In this study, six single nucleotide polymorphisms (SNPs) in the COL4A1 gene were genotyped among 351 CP patients and 220 healthy controls from the Chinese Han population. Significant association was found for an association between CP and rs1961495 (allele: p = 0.008, odds ratio (OR) = 1.387, 95% confidence interval (CI) = 1.088–1.767) and rs1411040 (allele: p = 0.009, OR = 1.746, 95% CI = 1.148–2.656) SNPs of the COL4A1 gene. Multifactor dimensionality reduction analysis suggested that these SNPs had interactive effects on the risk of CP. This study is the first attempt to investigate the contribution of polymorphisms in the COL4A1 gene to the susceptibility of CP in a Chinese Han population. This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP.     

中国汉族和维吾尔族MRC1基因多态性与肺结核病的相关性

目的 探讨中国汉族和维吾尔族人群MRC1基因多态性与肺结核病易感性的联系. 方法 应用PCR和DNA测序技术,对中国汉族454例和维吾尔族595例人群的MRC1基因的第7号外显子6个SNPs(G1186A、G1195A、T1212C、C1221G、C1303T和C1323T)基因型及基因频率分布进行检测,并进行连锁不平衡分析. 结果 中国汉族人群中G1186A位点等位基因G型分布频率在肺结核病组和正常健康组之间存在显著差异(P =0.037;OR =0.76;95％ CI:0.58～0.98);AG基因型在两组之间存在显著性差异(P ＜0.01;OR=0.57;95％ CI:0.37 ～0.87).在年龄和性别校正后,G1186A位点在显性(P＜0.01;OR=0.59;95％ CI:0.40～0.87)、超显性(P =0.045;OR =0.69;95％ CI:0.47～0.99)和加性模式(P =0.041;OR=0.76;95％ CI:0.59 ～0.99)时,与肺结核病存在显著相关性.在维吾尔族人群中G1186A位点的等位基因G的分布频率在两组之间的分布具有显著性差异(P =0.031;OR=1.29;95％CI:1.02 ～ 1.62);基因型分析发现AA基因型在两组之间也存在显著性差异(P=0.033;OR=1.64;95％ CI:1.04～2.60);在年龄和性别校正后,G1186A位点在加性模式下与肺结核病存在相关性(P=0.033;OR=1.28;95％ CI:1.02～1.61).连锁不平衡分析发现,构建的单体型GGTCCT(P=0.032;OR =0.75;95％ CI:0.57 ～0.97)和GGTCCC(P=0.044;OR=0.57;95％ CI:0.33 ～0.99)与肺结核病存在显著的相关性. 结论 MRC1基因G1186A位点与中国人群肺结核病相关.     

PPP1R3基因多态性与中国汉族人群2型糖尿病的相关性研究

目的　旨在研究 1型蛋白磷酸酶骨骼肌特异的糖原靶向调节亚单位基因 (PPP1R3)Asp90 5Tyr以及 3′ -UTR5bpD/I多态性与安徽省汉人群的 2型糖尿病 (T2DM )相关性。方法　运用PCR -RFLP法对安徽省合肥地区 36 6例汉族受试者 (T2DM患者 2 6 2例 ,健康成人 10 4例 )进行基因型测定。结果　 (1)PPP1R3基因Asp90 5Tyr以及 3′ -UTR 5bpD/I多态性的基因型及等位基因频率在T2DM与健康对照组间分布均没有显著性差异 (P >0 .0 5 )。 (2 )PPP1R3基因Asp90 5Tyr以及3′ -UTR 5bpD/I多态性间呈连锁不平衡 ,其分布频率在不同人群中不尽相同。结论　PPP1R3基因Asp90 5Tyr以及 3′ -UTR 5bpD/I多态性可能在安徽省合肥地区 2型糖尿病发病中不起重要作用。两种多态性的分布表现明显的种族性。     

LMX1A基因多态性与中国汉族人群先天性脊柱侧凸遗传易感性的关联

背景：先天性脊柱侧凸是由于胚胎期脊柱椎体发育异常引起的脊柱侧凸,其遗传病因学假说开始引起许多学者的重视。 目的：通过候选基因LMX1A上关键单核苷酸多态性位点的筛查,探索LMX1A与中国汉族人群先天性脊柱侧凸及其不同临床表型之间的关联。 方法：入选127例中国汉族先天性脊柱侧凸患者,另选取外伤、感染、炎症性疾病等患者127例为对照组。根据国际人类基因组单体型图计划提供的基因型数据,应用Haploview 4.1软件选取LMX1A的标签和功能单核苷酸多态性位点。根据椎体畸形特点、畸形部位、畸形受累程度、有无合并肋骨畸形和椎管内畸形将病例组进一步分为不同临床表型。所有样本应用SNPstream UHT Genotyping系统对所选单核苷酸多态性位点进行基因型鉴定;进一步进行基于基因型/等位基因频率的关联分析,并用Haploview 4.1软件分析对照组单核苷酸多态性位点间是否存在连锁不平衡。 结果与结论：共筛选6个位点：SNP1(rs1819768)、SNP2(rs12023709)、SNP3(rs16841013)、SNP4(rs4656435)和SNP5(rs4657412)和SNP6(rs4657411),其基因型分布在病例组和对照组中均符合Hardy-Weinberg平衡;在基于基因型的关联分析中发现阳性位点SNP1和SNP2,单位点分析显示两位点基因型在病例组和对照组中的分布频率差异有显著性意义(P=0.026和P=0.026),在进一步非条件Logistic回归分析中发现这两个位点的基因型分布最符合Ressessive(OR=0.38;95%CI=0.15~0.94,P=0.029,AIC=354.9)遗传模型;SNP1、SNP2、SNP3和SNP6处于连锁不平衡状态,SNP4和SNP5也处于完全连锁不平衡状态,但单倍体型与先天性脊柱侧凸的发生风险之间不存在相关性;在进一步与先天性脊柱侧凸临床表型的关联分析中发现SNP1基因型AC型、SNP2基因型AG型、SNP3基因型CT型与有椎体形成障碍先天性脊柱侧凸的易感性升高有关。结果提示在中国汉族人群中LMX1A基因可能和先天性脊柱侧凸的发生、发展相关,是一个重要的易感基因。     

南方汉族人特应性皮炎中间丝聚合蛋白基因多态性检测与分析

目的 探讨中间丝聚合蛋白( filaggrin,FLG)基因多态性与南方汉族人特应性皮炎(atopic dermatitis,AD)的相关性.方法 提取50例南方汉族AD患者及100名健康对照者的基因组DNA,采用PCR及直接测序法,对FLG基因已报道的13个单核苷酸多态性(3321 delA、441 delA、1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)进行测序.结果 14例(28％)AD患者检测到FLG 3321 delA多态性位点,6例(12％) AD患者检测到FLG 441 delA多态性位点,健康对照组无1例检测到该多态性位点.患者组及对照组均未检测到FLG( 1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)基因多态性.结论 FLG基因可能与南方汉族人群AD易感性相关.     

Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population

Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is important for downregulation of T-cell activation, and CTLA-4 gene polymorphisms have been implicated as risk factors for rheumatoid arthritis (RA). Previous studies of the association between the +49 polymorphism of the CTLA-4 gene in RA have provided conflicting results. In order to determine association of the CTLA-4 gene with RA in Chinese Han population, we used denaturing gradient gel electrophoresis (DGGE) to genotype polymorphisms of four SNPs (MH30, +49, CT60 and JO31) of the CTLA-4 gene in 326 RA patients and 250 healthy controls. Furthermore, meta-analysis of all available studies relating +49 polymorphism to the risk of RA was performed to confirm the disease association. Among the SNPs examined, the genotype frequencies of CTLA-4 +49 and CT60 in RA patients differed significantly from controls (P=0.028 and 0.007). In addition, the distribution of four haplotypes constructed by these two SNPs was significantly different between patients and controls (chi(2)=10.58, d.f. =3, P=0.014). The meta-analysis also revealed that in both European and Asian populations, the CLTA-4 +49 G allele was associated with the risk of RA. These results suggested that the CTLA-4 gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in RA disease.     

Association of PRKCH gene with lacunar infarction in a local Chinese Han population

Recent evidence indicated that the PRKCH gene was a susceptibility gene for lacunar infarction in a Japanese population. The aim of the present study was to explore the association of the gene with lacunar infarction in a population of Chinese Han ancestry. A total of 280 consecutive lacunar infarction patients and 306 unrelated population-based controls that had been matched for age and sex were examined using a case–control design. Two single nucleotide polymorphisms (SNPs) of PRKCH gene (rs3783799 and rs2230500) were genotyped with ligase detection reaction (LDR) and multiplex polymerase chain reaction (PCR). Linkage disequilibrium (LD) and haplotype analysis were also investigated between these two groups. Overall alleles and genotype frequencies were similar between cases and controls. No significant association was detected with the gene polymorphisms mentioned above and lacunar infarction; no significant difference was found with haplotype analysis between these two groups. None of the two SNPs showed significant association with lacunar infarction in the whole subjects before and after adjustment for conventional stroke risk factors (hypertension, diabetes mellitus, and hypercholesterolemia). The frequencies of PRKCH differed largely from those in the Japanese population. The present study suggests that variants in the PRKCH gene are not the risk factors for lacunar infarction in individuals from a small population of Chinese Han ancestry. Population differences in alleles and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.     

Association of OSMR gene polymorphisms with dilated cardiomyopathy in a Han Chinese populationCSCD

Objective To assess the association of polymorphisms of oncostatin M receptor (OSMR) gene with dilated cardiomyopathy (DCM) in a Han Chinese population. Methods For 351 DCM patients and 418 healthy controls, two single nucleotide polymorphisms (SNPs) of the OSMR gene, namely rs2292016 (promoter, -100G/T) and rs2278329 (missense, Asp553Asn), were genotyped with a TaqMan SNP genotyping assay. Two hundred of the patients were also followed up for (49. 85 ± 22. 52) months. Results For rs2292016, carriers of GT genotype were more likely to develop DCM compared to those with GG and TT genotypes (OR= 1.45, 95%CI:1. 09-1. 92, P = 0.01). For those who did not receive cardiac resynchronization therapy, the GG genotype of rs2292016 was an independent indicator for poor prognosis (OR-1. 69, 95%C/:1. 11-2. 63, P = 0. 017). No association was found between genotypes of rs2278329 with the susceptibility or prognosis of DCM. Conclusion Polymorphisms of the OSMR rs2292016 locus are related to the development and outcome of DCM. © 2018 West China University of Medical Sciences. All rights reserved.     

Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population

Background  

Neuroglobin (Ngb), one of novel members of the globin superfamily, is expressed predominantly in brain neurons, and appears to modulate hypoxic-ischemic insults. The mechanisms underlying Ngb-mediated neuronal protection are still unclear. For it is one of the candidate protective factors for ischemic stroke, we conducted a case-control study to clarify the association of Ngb polymorphisms with ischemic stroke in the Southern Chinese Han population.     

中国汉族群体中PDCD1基因多态性与结直肠癌的相关性CSCD

目的探讨程序性细胞死亡受体1（ programmed cell death 1,PDCD1）基因多态性与结直肠癌的发生发展的关联性。方法应用聚合酶链反应-限制性片段长度多态性（PCR-restriction fragment length polymorphism, PCR-RFLP）方法对426例结直肠癌患者及500名正常个体的rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点进行多态性分析。结果rs36084323位点G等位基因在显性遗传模型下与TNM分期进展期结直肠癌的发生正关联（OR＝1.59,95%CI：1.02～2.48）。rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点组成的单倍型G-G-C-T-A和A-G-C-C-G与结直肠癌的发生负关联。结论PDCD1基因rs36084323位点AG和GG基因型与TNM分期进展期的结直肠癌存在正关联。而G-G-C-T-A和A-G-C-C-G单倍型与结直肠癌的发生负关联。     

网状内皮素4受体基因多态性与中国汉族精神分裂症关联分析

目的:分析网状内皮素4受体(RTN4R)基因上的5个单核苷酸多态性(SNP)与中国汉族精神分裂症关联,探讨RTN4R基因单核苷酸多态性与精神分裂症易感性的关系。方法:收集符合美国精神障碍诊断与统计手册第4版(DSM-Ⅳ)诊断的528名偏执型精神分裂症患者,在同一地域招募健康体检者528名作为对照,并采用阳性与阴性症状量表(PANSS)评估234例首次发病患者的临床症状,采用基因分型芯片对RTN4R基因上的5个功能单核苷酸多态性位点进行基因分型,分析多态性与疾病的关联性,以及PANSS因子分与RTN4R多态性的关联。结果:成功检测5个单核苷酸多态性位点的基因型,关联分析显示这些位点基因型和等位基因频率分布病例和对照之间差异无统计学意义。与携带rs696880位点GG基因型患者相比,携带AA基因型患者PANSS阳性分[(23.5±5.6)vs.(25.1±7.6),P0.05]、一般精神病理症状分[(42.6±9.9)vs.(46.0±13.4),P0.05]均较低,携带AA基因型患者发病年龄晚于携带GG型患者[(24.9±8.1)岁vs.(22.2±6.2)岁,P0.05]。结论:在中国汉族人群中,RTN4R基因多态性与精神分裂症可能不存在关联,但可能影响疾病表现。     

儿茶酚-O-甲基转移酶Vall58Met和汉族精神分裂症的关联/连锁分析

目的：探讨儿茶酚－Ｏ－甲基转移酶（ＣＯＭＴ）第１５８位密码子从缬氨酸到蛋氨酸的错义突变（Ｖａｌｌ５８Ｍｅｔ）多态性与精神分裂症的关系。方法：在４２个至少包含２名符合ＩＣＤ－１０精神分裂症诊断标准的患病同胞、父母存活的汉族家系中,对ＣＯＭＴＶａｌｌ５８Ｍｅｔ多态标记进行检测。结果：１）ＣＯＭＴ等位基因频度和基因型频度在父母组、非患病同胞组和患病同胞组之间无差异,在三组男女性别之间以及在精神分裂症不     

HLA-DRB1基因多态性与汉族人溃疡性结肠炎的相关性研究

目的：研究HLA—DRB1基因多态性与汉族人溃疡性结肠炎（UC）的相关性，以期发现UC的易感基因。方法：采用序列特异性引物聚合酶链反应的方法对汉族72例UC患者和314例正常对照者HLA-DRB1基因分型。结果：UC患者携带DRB1＊07等位基因的频率较正常对照组高（19．4％vs9．2％，P=0．0229，OR=2．372，95％CI：1．181～4．766），但经Bonferroni校正后Pc〉0．05，差异无显著性。在临床亚型分析中，全结肠炎组和无肠外表现组的DRB1＊07的频率明显增高。在中重度组中DRB1＊07和DRB1＊14的频率显著增高，轻度组的DRB1＊16的频率明显增高，而携带DRBl＊03的5例患者在临床上均表现为轻度，这些差异与正常对照组相比均有统计学意义。且在轻度组中的DRB1＊16的频率同样明显高于在中重度组的频率。结论：在汉族人群中，HLA-DRB1＊07与全结肠炎、无肠外表现以及中重度UC呈正相关，HLA—DRB1＊14和HLA-DRB1＊16分别与中重度和轻度UC呈正相关，而HLA-DRB1＊03与中重度UC呈负相关，提示HLA—DRB1等位基因与中国汉族人群的UC临床表型有关。     

Association of susceptibility to Takayasu arteritis in Chinese Han patients with HLA-DPB1

Takayasu arteritis (TA) is a chronic large-vessel vasculitis of unknown etiology. Human leukocyte antigen (HLA) alleles play an important role in the development of TA. The association between HLA-DPB1 and TA in Chinese Han patients remains unclear. We examined the genotypes of 72 Chinese patients with TA and 180 healthy unrelated individuals who did not have any history of chronic disease. HLA-DPB1 genotypes were determined using polymerase chain reaction sequence-specific primer (PCR-SSP). The frequencies of DPB1*09 and DPB1*1701 among the TA patients were significant higher than among the controls. The mean age of the onset of TA in patients with DPB1*1701 alleles was significant earlier than the DPB1*1701 negative patients. Our results indicated that the HLA-DPB1*09 and DPB1*1701 alleles might increase the susceptibility to TA, and the individuals possessing DPB1*1701 had the earlier onset age of the disease. Further studies on the mechanism underlying are warranted.     

中国北方汉族人CYP7A1基因rs2162459多态性与阿托伐他汀疗效的关系

 目的：探讨中国北方汉族人中编码胆固醇7α-羟化酶的细胞色素P-450第7家族A亚族多肽1(CYP7A1)基因rs2162459位点多态性与阿托伐他汀疗效之间的关系。方法：收集200例高脂血症患者的临床资料和血液样本,应用多重SNaPshot技术检测CYP7A1基因rs2162459位点的多态性,通过构建多种遗传模型,采用logistic回归分析基因变异与阿托伐他汀疗效的关系。结果：rs2162459位点多态性符合Hardy-Weinberg平衡,3种基因型AA、GA和GG的基线高密度脂蛋白胆固醇（HDL-C）浓度依次降低,分别为(1.36±0.94) mmol/L、(1.16±038) mmol/L和(1.07±0.28) mmol/L,差别有统计学意义（P<0.05）。rs2162459位点基因型以及等位基因在阿托伐他汀有效和无效两组中的分布有显著差异(均P<0.05)。经过HDL-C调脂疗效的多元logistic回归分析发现rs2162459不同基因型调节HDL-C的疗效不同,在加性模型、广义模型和显性模型中的结果分别为:OR=1.74,95%CI：1.09~2.77;OR=2.86,95%CI：1.13~7.25;OR=2.21,95%CI：1.12~4.33。结论: 基因型GG携带者基线HDL-C浓度较低,阿托伐他汀对这些患者升高HDL-C的作用显著强于AA基因型携带者。