The association between common genetic variation in the FTO gene and metabolic syndrome in Han Chinese

Background Genome-wide association studies for type 2 diabetes mellitus （T2DM） identified FTO gene as a locus conferring increased risk for common obesity in many populations with European ancestry. However, the involvement of FTO gene in obesity or T2DM related metabolic traits has not been consistently established in Chinese populations. The objective of this study was to investigate the association of FTO genetic polymorphisms with metabolic syndrome （MetS） in Han Chinese. Methods We tested 41 FTO single nucleotide polymorphisms （SNPs） for association between FTO and MetS-related traits. There were a total of 236 unrelated subjects （108 cases and 128 controls）, grouped according to the International Diabetes Federation （IDF） criteria. Results Of the 41 SNPs examined, only SNP rs8047395 exhibited statistical significance （P=-0.026） under a recessive model, after Bonferroni adjustment for multiple testing （OR 1.64, 95% CI 1.11-2.42; P=-0.014）. The common distributions of this polymorphism among Chineseawith a minor allele frequency （MAF） of 36% in the control group versus 48% in the Met$ group--greatly improved our test power in a relatively small sample size for an association study. Previously identified obesity- （or T2DM-） associated FTO SNPs were less common in Hart Chinese and were not associated with MetS in this study. No significant associations were found between our FTO SNPs and any endophenotypes of MetS. Conclusions A more common risk-conferring variant of FTO for MetS was identified in Han Chinese. Our study substantiated that genetic variations in FTO locus are involved in the pathogenesis of MetS.     

Relationship between Single Nucleotide Polymorphisms in -174G/C and -634C/G Promoter Region of Interleukin-6 and Prostate Cancer

The association between the single nucleotide polymorphisms （SNPs） in -174G/C and -634C/G of interleukin-6 （IL-6） promoter region and prostate cancer was examined in the population of Han people in Hubei region. TaqMan PCR was employed for the gene-typing of -174G/C and -634C/G in promoter region of IL-6 gene to compare the prostate cancer patients and normal controls in terms of genotype frequency, allele frequency and risk of prostate cancer. Enzyme-linked immu- nosorbent assay （ELISA） was used for the detection of IL-6 concentration in peripheral blood of the patients with prostate cancer and the relationship between the IL-6 level and the genotype was studied. Our results showed that in all the subjects, the genotype of genetic locus -174G/C was found to be GG and no CG and CC were observed. There was a significant difference in gene frequency of GG, CG and CC of -634C/G and allele frequency of G and C between prostate cancer patients and normal controls （P〈0.05） and the gene frequency of GG＋CG increased with the clinical stages and pathological grades of prostate cancer. The IL-6 level in GG＋CG group was significantly higher than that in CC group. It was concluded that no SNP in -174G/C IL-6 promoter region was found in the population of Han people in Hubei region. The SNP in -634C/G was, to some extent, associated with the development and progression of prostate cancer. The population with GG＋CG genetype has higher risk for prostate cancer.     

Single Nucleotide Polymorphisms in a Male InfertilityRelated Gene CatSper

Objective To identify single nucleotide polymorphisms (SNPs) of human CatSper gene, the mouse homologous gene product, which plays a crucial role in mouse male sterility. Methods We demonstrated a systematic screening of SNPs in coding regions and flanking intronic regions of human CatSper gene in a sample subset from a total 210 male individuals by DNA sequencing. Then we used PCR single-strand conformation polymorphism (SSCP) analysis to determine the allele frequencies of the possible SNPs among the whole 210 Chinese Han male individuals. Results Three SNPs, including two novels, were identified and their allele frequencies were determined in the 210 Chinese Han male individuals. These SNPs were assembled into large SNP database that promises to enable the dissection of the genetic basis of disease.     

Single Nucleotide Polymorphisms in CAPN10 Gene of Chinese People and Its Correlation With Type 2 Diabetes Mellitus in Han People of Northern China

To investigate the distribution of single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China. Methods CAPN10 gene was sequenced to detect SNPs in different nationalities of China. Five SNPs were chosen to perform case-control study and haplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. One SNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmissiondisequilibrium test (STDT) in 68 type 2 diabetes pedigrees (37Tpeople). Results A total of 40 SNPs were identified in length of 8 936bp, with an average of 1 in every 223bp. The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different from those reported in Mexican American. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control, and the haplotype frequencies in the two groups were not significantly different. No positive results was found in TDT and STDT analysis. Conclusions The SNP distribution of CAPN10 gene differs in different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.     

Variations in the calpain-10 gene are associated with the risk of type 2 diabetes and hypertension in northern Han Chinese population

Background Calpain-10 (CAPN10) has been identified as a susceptibility gene in type 2 diabetes mellitus (T2DM) and insulin resistance. The present study aimed to identify the effects of genetic variations in the CAPN10 gene on the development of type 2 diabetes and hypertension in northern Han Chinese population.Methods We performed a case-control study and genotyped single nucleotide polymorphism (SNP)-44, -43, -19 and -63 of CAPN10 gene in 1046 subjects from the northern China, including 493 patients with T2DM and hypertension and 553 age- and gender-matched normal healthy controls. Results Univariate analysis showed that the four polymorphisms were not independently associated with T2DM and hypertension. However, the frequency distributions of SNP-44 allele C (allele 2) (17.89% vs 9.80%, P=0.0016) and genotype CC (22) (4.21% vs 1.01%, P=0.0059) in obese patients (body mass index ≥ 30 kg/m(2)) were different from those in non-obese patients. Logistic regression analyses revealed that carriers of the 1112/1221 diplotype had a significantly lower odds ratio for diabetes and hypertension (OR=0.399, 95% CI, 0.196–0.814, P=0.0115). The 1112/1121 diplotype associated with significantly increased risk of type 2 diabetes in Mexican-American was not associated with the increased risk in Chinese.Conclusion These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population.     

Others——Single nudeotide polymorphism of calcitonin receptor gene and idiopathic hypercalciuria

Objective To explore the association of the calcitonin receptor （CTR） allelic polymorphism in the 1 377 bp region with the risk of idiopathic hypercalciuria （IH） in the Han nationality in Hubei area, and to study the pathogenesis of IH. Methods The CTR genotypes were determined by polymerase chain reaction-restriction flagment length polymorphism in 76 patients with IH and 126 healthy controls from the Han nationality in Hubei area, using restriction endonuclease AluI. Results The distri bution frequencies of AluI alleles in the 2 groups followed the Hardy-Weinberg equilibrium. The distribution frequencies of the CC, TC and TT genotypes were 73.7%, 17.1% and 9.2% in IH patient group, and 89.7%, 9.5 % and 0.8 % in control group; the distribution frequencies of C and T alleles in the 2 groups were 84.2 %, 15.8 % and 94.4 %, 5.6 %, respectively. The distribution frequencies of T and TT alleles were higher, while those of C and CC alleles were lower, compared with control group;the differences between the 2 groups were significant （P 〈 0.05）. Conclusion The results indicate that the C/T single nucleotide polymorphism in the CTR gene play a significant role in the mechanism of IH in the Han nationality in Hubei area in China. 7 refs,2 figs,2 tabs.     

Effects of single nucleotide polymorphisms 869 T/C and 915 G/C in the exon 1 locus of transforming growth factor-β1 gene on chronic obstructive pulmonary disease susceptibility in Chinese

Background The main risk factor for chronic obstructive pulmonary disease （COPD） is cigarette smoking. However, only 10%-20% of chronic heavy smokers develop systematic COPD. We hypothesized that the inheritance of gene polymorphisms could influence the development of COPD, which was investigated by studying two single nucleotide polymorphisms （SNP） in exon 1 of the transforming growth factor-β1 （TGF-β1） gene. Methods We enrolled 219 patients with COPD as the research group and 148 healthy people as the control group, all of whom were Chinese Han people. The polymorphisms of the TGF-β1 gene, 869T/C and 915G/C, were analyzed using the method of amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results The occurrence of the TGF-β1 gene 869T/C polymorphism in patients with COPD was significantly different from the control group （P 〈0.05）, in which the relative risk of this disease increased in cases who had the C allele （OR： 1.131, 95% CI： 1.101-1.539）. There was no increased frequency of TGF-β1 915G/C gene in COPD patients compared with control subjects （P 〉0.05）. Conclusions The polymorphism 869T/C in TGF-β1 gene has a significant association with disease occurrence in COPD patients and the C allele might be a risk factor. The homozygous wild-type CC of 869T/C on TGFβ1 could be a predisposing factor in COPD and those who carry the C allele might have particularly susceptibility to developing COPD.     

Common SNPs of APM1 gene are not associated with hypertension or obesity in Chinese population

Objective To investigate whether the common variants 45T/G and 276G/T in APM1 gene were associated with hypertension combined with obesity （HO） and related clinical features in Chinese Han population. Methods A case-control study design was applied. Common polymorphisms of 45T/G and 276G/T were genotyped by PCR product sequencing in 484 cases with HO and 502 controls with normal blood presure and BMI 〈 25. Results The genotype and allele frequencies of 45T/G, 276G/T, and haplotype defined by the two variants in cases did not differ from those in controls. The means of blood pressure, BMI and waist-hip ratio did not differ among genotypes of the two polymorphisms and haplotypes. Among lipid profiles, only serum high-density lipoprotein cholesterol （HDL-C） levels were significantly lower in T allele carders than that in non-T carriers after adjusting possible confounding factors （1.21 vs 1.32 mmol/L, P=0.0001）. Condusion Polymorphisms of 45T/G and 276G/T in APM1 gene are not associated with hypertension or obesity, or their clinical features in Chinese Han population. Common polymorphism of 45T/G might be associated with serum HDL-C levels in Chinese.     

Relationship between β3-AR Gene and Obesity, Type 2 Diabetes, Insulin Resistance in Chinese Han Population

Objective: To explore the relationship between the β3-adrenergic receptor(β3-AR)gene and obesity, T2DM. insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β3-AR gene representing the variation Trp/Arg. Results:Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS, FINS,PINS, FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS sub-group without T2DM. Cnclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in ChineseHan population.     

2型糖尿病家系脂联素基因多态性研究

目的:研究脂联素(adiponectin)APM1基因单核苷酸多态性(single nucleotide polymorphism,SNP)与2型糖尿病的关联性.方法:应用聚合酶链反应-限制性内切酶片段长度多态性技术,选择3个APM1基因SPNs位点:-11377C＞G、 45T＞G和 276G＞T,对75个2型糖尿病家系(337例)进行基因分型,并以Genehunter软件分析单个SNP在家系中传递不平衡(transmission-disequilibrium,TDT)情况和多个SNPs所构成的单倍型传递情况,同时进行人体测量学、血糖、血脂等临床参数的检测.结果:(1)经TDT分析,未发现APM1基因SNPs单个位点在2型糖尿病患病子代中优势传递;(2)所检测的3个SNPs所构成的单倍型在患病子代中未见优势传递;(3)对-11377C＞G位点不同基因型生理、生化指标分析:在糖代谢异常组,GG基因型体质量指数(BMI)、腰围(WC)明显高于CC基因型(P=0.032,P=0.030);G等位基因携带者HDL-C水平低于CC基因型(P=0.006),而空腹胰岛素(FINS)水平高于CC基因型(P=0.011);在家系正常对照组,G等位基因携带者FINS水平明显低于CC基因型(P=0.021);(4)对 45T＞G多态性的分析:在糖代谢异常组,GG基因型BMI明显高于TT基因型(P=0.036),而FINS水平明显低于TT基因型(P=0.014);(5)对 276G＞T多态性的研究:在家系正常组,T等位基因携带者的BMI明显低于GG基因型(P=0.043).结论:未发现APM1基因3个多态性位点与2型糖尿病存在相关性.但APM1基因对胰岛B细胞功能、肥胖可能有一定影响.     

宁夏回、汉族群体TGF-β1启动子区基因多态性研究

目的探讨转化生长因子β1(Transforming Growth Factor-β1,TGF-β1)基因启动子区SNP-800(G/A)和SNP-509(C/T)多态性在宁夏回、汉族人群中的分布特征。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对210例回族和308例汉族人群转化生长因子β1启动子区(-800位点、-509位点)两个多态性位点进行检测。结果宁夏回族群体TGF-β1基因两个多态性位点各基因型频率及等位基因频率分别为:-800(GG:97.62%;GA:2.38%;AA:0%;G:98.81%;A:1.19%),-509(CC:21.90%;CT:56.67%;TT:21.43%;C:50.24%;T:49.76%);宁夏汉族群体TGF-β1基因两个多态性位点各基因型频率及等位基因频率分别为:-800(GG:99.03%;GA:0.97%;AA:0%;G:99.52%;A:0.48%);-509(CC:27.27%;CT:50.97%;TT:21.75%;C:52.76%;T:47.24%),两组间差异均无统计学意义(P>0.05)。按性别分组,两个多态性位点的基因型频率及等位基因频率差异亦无统计学意义(P>0.05)。结论 TGF-β1基因启动子区-800、-509两个多态性位点在宁夏回、汉族人群及不同性别间差异无统计学意义。     

脂联素基因单核苷酸多态性与阻塞性睡眠呼吸暂停低通气综合征的关系

目的:探讨脂联素基因单核苷酸多态性(SNP)与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)之间的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析了南京地区40例正常对照者、78例OSAHS患者脂联素基因的两个单核苷酸多态性(SNP 45,SNP 276)。结果:脂联素SNP 45,SNP 276的多态性分布与OSAHS的发病无直接相关性(P>0.05)。但在OSAHS患者中,携带脂联素基因SNP 276G/G基因型与(G/T T/T)基因型相比:颈围增粗,最长呼吸暂停时间延长,胆固醇升高,低密度脂蛋白增加(P<0.05)。结论:SNP 45,SNP 276的多态性分布与南京地区汉族人群OSAHS的发病无直接相关性,但在OSAHS患者中,携带脂联素SNP 276G/G基因型者与G/T T/T基因型者相比,促使OSAS发展和加重的潜在危险性可能更大。     

中国上海地区汉族人GFPT2基因多态性与2型糖尿病相关性分析

目的:研究中国上海地区汉族人2型糖尿病(T2DM)家系谷酰胺-6-磷酸果糖氨基转移酶(GFPT2)基因单核苷酸多态性(SNP),探讨其与T2DM的关系. 方法:应用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)技术,对来自于75个T2DM家系共335(患者196)人的GFPT2基因中4个多态性位点(IVS2 26G＞A,rs2303008,rs2303007和rs1035411)进行基因型研究,对所有家系成员进行传递不平衡检验(TDT)和同胞传递不平衡检验(STDT),并以Genehunter软件分析单倍型传递情况,同时进行人体测量学、血糖、血脂等临床参数的检测. 结果:①经TDT-STDT检验,未发现单个GFPT2基因SNP位点在T2DM患病子代中优势传递(P＞0.05);②所检测的4个SNPs所构成的单倍型在患病子代中未见优势传递(P＞0.05);③所检测的4个SNPs各自的不同基因型及不同等位基因之间生理、生化指标分析未见异常(P＞0.05). 结论:上海地区汉族人GFPT2基因存在SNPs,其可能与T2DM的易感性相关,但可能不是中国上海地区汉族人群T2DM发病的主要易感基因位点.     

非糖尿病患者脂联素基因SNP+276 G/T单核苷酸多态性与冠心病的相关性研究

目的:探讨在中国南京地区汉族人群中脂联素单核苷酸多态性SNP 276 G/T与冠心病的关系.方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析了266例非糖尿病患者的冠脉造影结果和脂联素单核苷酸多态性(SNP 276 G/T)的关系,研究设立了病例组和正常对照组.结果:相对于T/T基因型,G/G基因型修正后的OR值为3.16,(P＜0.05);G/G G/T基因型的修正后OR值为2.69,(P＜0.05).结论:脂联素SNP 276 G/T各种基因型和冠心病的发病密切相关,G/G基因型很可能是冠心病的易感基因型.     

RANTES及其受体CCR5基因多态性及环境因素在昆明汉族T2DM发生中的交互作用

  目的  探讨RANTES基因启动子区rs2280788位点、CCR5基因启动子区rs1799987位点多态性及环境因素在昆明地区汉族2型糖尿病（Type 2 diabetes mellitus, T2DM）的发生中是否存在交互作用。  方法  收集92例昆明地区汉族血糖正常者和97例T2DM患者的一般资料及外周静脉血，采用Taqman实时荧光定量PCR检测RANTES基因 rs2280788位点及其受体CCR5基因rs1799987位点的多态性，运用多因子降维法（multifactor dimensionality reduction, MDR）分析RANTES及其受体基因多态性与环境因素在昆明地区汉族T2DM的发生中是否存在交互作用。  结果  CCR5 rs1799987与RANTES rs2280788间存在交互作用（测试组平衡精度为0.5314，训练组平衡精度为0.5820，交叉验证一致性为10/10，P < 0.05，OR:2.0465，95%CI:1.1118～3.7672）；高血压与中心性肥胖间存在交互作用（测试组平衡精度为0.7031，训练组平衡精度为0.7031，交叉验证一致性为10/10，P < 0.001，OR:8.1640，95%CI:3.8745～17.2026）；未发现CCR5 rs1799987与环境因素、RANTES rs2280788与环境因素间存在交互作用（P > 0.05）。  结论  RANTES基因启动子区-28（rs2280788）与CCR5基因启动子区59029（rs1799987）SNP位点之间、高血压与中心性肥胖之间均存在交互作用，具有交互作用的因素同时存在会增加昆明地区汉族T2DM的患病风险。     

APPL1基因与2型糖尿病患者体脂含量及分布的相关性

目的 观察APPL1基因单核苷酸多态性(SNP)与体脂含量及分布的关系.方法 590例无血缘关系的上海地区中国人,糖耐量正常(NGT)者358名,2型糖尿病(T2DM)者232例.用聚合酶链反应-限制性片段长度多态性方法检测rs3806622、rs4640525基因型.测定体重指数(BMI)、腰围(W)、臀围和股围.测定空腹血脂谱、空腹及糖负荷后2 h血糖、胰岛素和C肽水平.结果 不论在NGT组还是T2DM组,其BMI＞25 kg/m2与BMI≥25 kg/m2亚组间rs3806622、rs4640525基因型频率和等位基因频率比较差异均无统计学意义;T2DM组腰围亚组问rs3806622、rs4640525等位基因频率分布差异有统计学意义(均P＜0.05),腰围值高者G等位基因频率显著增高[0.084,W＜90 cm(0.022)],OR值分别为2.26(95%可信区间1.05～4.86)和4.13(95%可信区间1.21～14.09);经年龄、性别、BMI校正后,T2DM组rs3806622、rs4640525位点携带G等位基因者均较非携带G等位基因者腰围值高(P＜0.05);相关因素的逐步多元回归分析发现性别、BMI及rs4640525均独立相关因素(均P＜0.05).结论 APPL1基因SNP(rs3806622和rs4640525)与中国人2型糖尿病患者体脂分布相关.     

RETN、LEPR和ADIPOQ基因多态性与中国汉族人群2型糖尿病风险及血脂代谢的关系

目的：探讨中国汉族人群中编码脂肪因子的抵抗素（RETN）、瘦素受体（LEPR）和脂联素（ADIPOQ）基因多态性与2型糖尿病（T2DM）的相关性及其对血脂代谢的影响。方法：入组526例T2DM患者和344例无糖尿病对照者,采用竞争性等位基因特异性PCR（KASP）技术检测RETN（rs1862513、rs3745367）,LEPR（rs1137101、rs13306519、rs1805096）和ADIPOQ（rs1501299、rs2241766）的单核苷酸多态性（SNP）;并对RETN、LEPR和ADIPOQ基因多态性与T2DM发病风险间的关系以及各SNP基因型与血脂代谢间的关系进行统计学分析。结果：T2DM组中RETN rs1862513 GG基因型和G变异等位基因的频率均高于对照组,差异有统计学意义（42.0% vs. 30.0%,P=0.003;65.0% vs. 57.1%,P=0.001,OR=1.397,95%CI=1.140～1.712）;进一步将总研究人群按不同BMI分析发现,在BMI＜25 kg/m2中,T2DM组中RETN rs1862513 GG基因型频率明显高于对照组（42.8% vs. 31.0%,P=0.015）;进一步分析各基因型与血脂的关系发现,RETN rs3745367在BMI＜25 kg/m2时GG或AG基因型具有更低的高密度脂蛋白胆固醇（HDL）水平（P=0.018）;LEPR rs13306519在BMI≥25 kg/m2时CC或CG基因型具有更低的HDL水平（P=0.016）;ADIPOQ rs1501299在总研究人群中CC或AC基因型的甘油三酯（TG）水平显著高于AA基因型（P=0.044）。结论：RETN rs1862513 G等位基因可能与中国汉族人群T2DM的发病风险相关;ADIPOQ rs1501299 CC或AC基因型可能与高TG水平有关,RETN rs3745367 GG或AG基因型在非肥胖人群,LEPR rs13306519 CC或CG基因型在肥胖人群中可能与低HDL水平相关。     

中国人群中HIV-1辅助受体CCR5基因新突变位点及CCR5-894C缺失基因多态性分析

目的：研究中国人群HIV-1辅助受体CCR5基因编码区新的单核苷酸多态性（SNP）位点;分析CCR5-894C缺失等位基因在中国普通人群和HIV-1高危人群中的分布特点和相关意义。方法：针对CCR5编码区用2对引物进行PCR扩增,设计测序引物对45例汉族人样本进行PCR产物直接测序,用DNAstar分析测序结果,寻找SNP位点。采用错配PCR-RFLP法对中国汉族、蒙族、藏族普通人群,性传播疾病和静脉吸毒高危人群及HIV-1携带者,共627份样品进行了CCR5-894C缺失等位基因分型。结果：在45例汉族人CCR5基因编码区共发现6个SNP位点,4个（184A→G、503G→T、668G→A、99G→T）引起氨基酸改变,两个无义突变;此外还发现1个单碱基缺失（894C缺失）,引起移码突变和提前终止。其中184A→G、503G→T、999G→T三个中国汉族人所特有的SNP位点为首次发现,它们的等位基因频率分别为1.11％,21.1%和10.0％;其中503G→T分布明显不符合Hardy-Weinberg平衡。汉、藏、蒙等民族的普通人群CCR5-894C缺失等位基因频率为1.11％,0.53%和0.在汉族HIV-1性传播、静脉吸毒传播的高危人群中,HIV-1阳性个体和阴性个体间CCR5-89C缺失等位基因频率差异无显著意义,与汉族普通人群比较差异也无显著意义。结论：中国人CCR5基因的SNP位点有自己的特点,共发现4个引起氨基酸改变的SNP位点（其中3个为首次发现）,1个引起移码突变的单碱基缺失。汉族人群中存在CCR5-894C缺失突变,但突变频率很低。这些SNP和缺失突变对于HIV-1感染和艾滋病病程的影响值得进一步研究。     

汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究

目的:分析中国汉族人群诱导型一氧化氮合酶(NOS2)基因启动子区C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征.方法:获取选择自然人群个体565人(男314例,女251例)血白细胞基因组DNA,利用嵌套式等位基因特异性引物PCR技术检测NOS2 C-1173T、NOS2 G-954C SNP.结果:NOS2 C-1173T SNP基因型分布CC、CT、TT分别为66.73%、26.37%、6.90%,C、T等位基因频率分别为79.88%、20.12%.NOS2 G-954C SNP基因型分布GG、GC、CC分别为61.77%、37.88%、0.35%,G、C等位基因频率分别为80.71%、19.29%.研究发现了NOS2基因在2位点的SNP前5种组合基因型分布:NOS2 C-1173C G-954G 233例(41.24%),NOS2 C-1173C G-954C 143例(25.31%),NOS2 C-1173T G-954G 89例(15.75%),NOS2 C-1173T G-954C 59例(10.44%),NOS2 T-1173T G-954G 27例(4.78%).结论:本研究揭示了中国汉族人群NOS2基因的2位点的SNP基因型及其组合分布特征,为研究该基因SNP与其生理功能和疾病的关系提供实验基础.