白细胞介素10基因多态性与子宫内膜异位症易感性的关系研究

Objective To explore the relationship of the endometriosis susceptibility and polymorphism of up stream of IL-10 promoter at the site of 1082( G→A), 819(C→T) and 592(C→A).Methods A total of 214 patients with endometriosis and 160 healthy individuals were enrolled and divided into patient group and control group in this study.The polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) was applied to detect the base transition in the up stream of IL-10 promoter at the site of 1082 ( G→A), 819 (C→T) and 592 ( C→A ).SPSS11.0 software was applied to analysis frequencies of all genotypes.Results There was no difference in polymorphism of IL-10-1082 between the endometriosis ( AA :87.90%, GA: 12.10% ) and control group( AA: 87.50%, GA: 12.50% ).The rate of TT, CT and CC genotype IL-10-819 was the same as the AA, CA and CC individually.There was no difference in the polymorphism of IL-10-819 or IL-10-592 between the endometriosis group( TT or AA:41.12%, CT or CA:47.66%, CC:11.21%) and control group(χ2 =5.87,P=0.053).However, there were significant difference in the genotype of CT of IL-10-819 or CA of IL-10-592 between the endometriosis group and control group(after adjust OR = 1.88, 95% CI = 1.10 - 3.21, χ2 = 5.24, P = 0.021 ), and the allele C of IL-10-819 or IL-10-592 were close related with occurrence of endometriosis (OR= 1.42,95% CI = 1.04 - 1.95, χ2 = 4.81, P = 0.028 ).The IL-10 level in the plasma of endometriosis group with genotype of CC (CC), CT (CA) of IL-10-819(-592) were significant higher than those with TT (AA)(CA/CT:(50.12±82.40) pg/ml, CC: (91.00 ± 118.23) pg/ml, TT/AA: (21.45 ±22.10) pg/ml)(F=2.492,P=0.048;F=1.852,P=0.008).Conclusion The allele C of IL-10-819 or IL-10-592 was close related to the high level expression of IL-10, and it is the risk of the occurrence of endometriosis.     

白细胞介素10基因多态性与子宫内膜异位症易感性的关系研究

Objective To explore the relationship of the endometriosis susceptibility and polymorphism of up stream of IL-10 promoter at the site of 1082( G→A), 819(C→T) and 592(C→A).Methods A total of 214 patients with endometriosis and 160 healthy individuals were enrolled and divided into patient group and control group in this study.The polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) was applied to detect the base transition in the up stream of IL-10 promoter at the site of 1082 ( G→A), 819 (C→T) and 592 ( C→A ).SPSS11.0 software was applied to analysis frequencies of all genotypes.Results There was no difference in polymorphism of IL-10-1082 between the endometriosis ( AA :87.90%, GA: 12.10% ) and control group( AA: 87.50%, GA: 12.50% ).The rate of TT, CT and CC genotype IL-10-819 was the same as the AA, CA and CC individually.There was no difference in the polymorphism of IL-10-819 or IL-10-592 between the endometriosis group( TT or AA:41.12%, CT or CA:47.66%, CC:11.21%) and control group(χ2 =5.87,P=0.053).However, there were significant difference in the genotype of CT of IL-10-819 or CA of IL-10-592 between the endometriosis group and control group(after adjust OR = 1.88, 95% CI = 1.10 - 3.21, χ2 = 5.24, P = 0.021 ), and the allele C of IL-10-819 or IL-10-592 were close related with occurrence of endometriosis (OR= 1.42,95% CI = 1.04 - 1.95, χ2 = 4.81, P = 0.028 ).The IL-10 level in the plasma of endometriosis group with genotype of CC (CC), CT (CA) of IL-10-819(-592) were significant higher than those with TT (AA)(CA/CT:(50.12±82.40) pg/ml, CC: (91.00 ± 118.23) pg/ml, TT/AA: (21.45 ±22.10) pg/ml)(F=2.492,P=0.048;F=1.852,P=0.008).Conclusion The allele C of IL-10-819 or IL-10-592 was close related to the high level expression of IL-10, and it is the risk of the occurrence of endometriosis.     

对氧磷酶和谷胱甘肽S转移酶基因多态性与农药暴露花卉种植者的健康关系研究

Objective In this study we conducted a cross-sectional study and reported on the distribution of two common genetic polymorphisms of the PON1 gene and two common genetic polymorphisms of the GST gene as well as the association between those polymorphisms and other predictors in a population of floriculture workers from Kunming city. Methods 136 pesticide-exposed farmers were recruited. PON1 and GST T1, M1 genotype were determined by means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results (1)Compared with exposure group, the GLB in control group was higher(β=-0.16,t=-2.30, P=0.02), but the A/G in control group was lower (β=0.14,t=2.09,P=0.04); (2) Compared with the persons who carried QQ genotype, the accumulative symptom scores were lower in the persons who carried RR genotype(t=-2.78, P=0.006); (3) Compared with GST T1 carriers, non-carriers' GLB (β=-0.20, t=-3.01, P=0.00)and IgG(β=-0.20,t=-3.01, P=0.00)were higher, but the A/G was lower; (4) The abnormities of cardiograms among people who had been exposed to pesticides were higher compared to people who did not expose to any pesticides (β=1.147, P=0.042). Conclusion PON1-192 and GST T1 gene were associated with the farmers health condition after pesticides exposure.     

对氧磷酶和谷胱甘肽S转移酶基因多态性与农药暴露花卉种植者的健康关系研究

Objective In this study we conducted a cross-sectional study and reported on the distribution of two common genetic polymorphisms of the PON1 gene and two common genetic polymorphisms of the GST gene as well as the association between those polymorphisms and other predictors in a population of floriculture workers from Kunming city. Methods 136 pesticide-exposed farmers were recruited. PON1 and GST T1, M1 genotype were determined by means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results (1)Compared with exposure group, the GLB in control group was higher(β=-0.16,t=-2.30, P=0.02), but the A/G in control group was lower (β=0.14,t=2.09,P=0.04); (2) Compared with the persons who carried QQ genotype, the accumulative symptom scores were lower in the persons who carried RR genotype(t=-2.78, P=0.006); (3) Compared with GST T1 carriers, non-carriers' GLB (β=-0.20, t=-3.01, P=0.00)and IgG(β=-0.20,t=-3.01, P=0.00)were higher, but the A/G was lower; (4) The abnormities of cardiograms among people who had been exposed to pesticides were higher compared to people who did not expose to any pesticides (β=1.147, P=0.042). Conclusion PON1-192 and GST T1 gene were associated with the farmers health condition after pesticides exposure.     

PAF-AH基因G994T突变与1型糖尿病的关系研究

Objective To investigate the plasma PAF-AH level in initialed type 1 diabetes patients and the association between the PAF-AH gene polymorphism and type 1 diabetes mellitus. Methods 155 initialed type 1 diabetes patients and 138 controls were selected in this study. Plasma PAF-AH was determined by PAF-AH Assay kit, and the PAE-AH gene G994t genotypes were detected by PCR. Results The activity of plasma PAF-AH in the patients with type 1 diabetes was significantly lower than that in the controls[ (20.64 ± 6.23)nmol/(min · ml) vs (28.56 ± 4. 11)nmol/(min · ml), P ＜0.05). Compared with control group, the frequencies of the GT genotype on G994T polymorphism between type 1 diabetes patients and controls were not significantly different(8.4％ vs 7. 2％, P ＞0. 05). Conclusion The activity of plasma PAF-AH in the patients with type 1 diabetes was significantly lower than controls. The G994T polymorphism of PAF-AH gene was not related to type 1 diabetes mellitus.     

PAF-AH基因G994T突变与1型糖尿病的关系研究

Objective To investigate the plasma PAF-AH level in initialed type 1 diabetes patients and the association between the PAF-AH gene polymorphism and type 1 diabetes mellitus. Methods 155 initialed type 1 diabetes patients and 138 controls were selected in this study. Plasma PAF-AH was determined by PAF-AH Assay kit, and the PAE-AH gene G994t genotypes were detected by PCR. Results The activity of plasma PAF-AH in the patients with type 1 diabetes was significantly lower than that in the controls[ (20.64 ± 6.23)nmol/(min · ml) vs (28.56 ± 4. 11)nmol/(min · ml), P ＜0.05). Compared with control group, the frequencies of the GT genotype on G994T polymorphism between type 1 diabetes patients and controls were not significantly different(8.4％ vs 7. 2％, P ＞0. 05). Conclusion The activity of plasma PAF-AH in the patients with type 1 diabetes was significantly lower than controls. The G994T polymorphism of PAF-AH gene was not related to type 1 diabetes mellitus.     

中国汉族人群β2肾上腺素能受体基因多态性与原发性高血压关联的Meta分析

目的 评价β2肾上腺素能受体(ADRB2)基因A46G、C79G位点多态性与中国汉族人群原发性高血压(EH)发病的关系. 方法 计算机检索Pubmed、Embase、中国期刊全文数据库、万方数据库、重庆维普数据库,检索时间范围包括2010年5月之前的所有文献,分别检索到研究我国汉族人群ADRB2基因A46G、C79G位点多态性改变与EH相关性的文献15篇和10篇.按纳入、排除标准选取ADRB2基因A46G、C79G位点多态性与EH的病例-对照研究,采用RevMan 4.2进行定量分析相关性. 结果 分别纳入研究A46G位点文献8篇(涉及1078例EH患者和788名正常血压者)、C79G位点文献6篇(涉及1367例病例及1006名正常对照).Meta分析结果表明,中国汉族人群EH易感性与A46G位点多态性相关:基因型GG与(AA+AG)相比,固定效应模型,OR=1.35,95%CI=1.04～1.74,P=0.02;基因型GG与AA相比,固定效应模型,OR=1.41,95%CI=1.06～1.89,P=0.02.C79G位点多态性与中国汉族人群EH相关性无统计学意义:等位基因G与C相比,随机效应模型,OR=0.88,95%CI=0.55～1.39,P=0.57. 结论 ADRB2基因A46G位点多态性与我国汉族人群EH的易感性相关,C79G 位点多态性与中国汉族人群EH无关.

Abstract：

Objective To evaluate the relationship between A46G and C79G polymorphisms in the β2-adrenergic receptor (ADRB2) gene and the incidence of essential hypertension (EH) among the Han Chinese population. Methods We conducted a computer retrieval of PUBMED,EMBASE,CNKI,Wanfang and VIP databases prior to May 2010.Articles investigating the relationship of EH and ADRB2 gene polymorphism of Han group were found through literature search,including 15 articles on A46G and 10 articles on C79G.According to the including and excluding criteria,a Meta-anatysis was conducted in EH and ADRB2 gene polymorphism of A46G and C79G.The association was examined by RevMan4.2 software through quantitative analysis. Results Eight articles on A46G polymorphism (including 1078 EH cases and 788 control subjects) and six articles on C79G polymorphism (including 1367 EH cases and 1006 control subjects) were included in the current study.Meta-analysis showed that there was a significant association between A46G polymorphism and EH:genotype GG/(AA+AG)(fixed-effected model,OR=1.35,95% CI=1.04-1.74,P=0.02),genotype GG/AA (fixed-effected model,OR=1.41,95% CI=1.06-1.89,P=0.02).No significant association was found between C79G polymorphism and EH of Han group in China:G/C allele comparison (random-effected model,OR=0.88,95% CI =0.55-1.39,P =0.57). Conclusion Significant association was found between A46G polymorphism of ADRB2 gene and EH,whereas no association could be found between C79G polymorphism and EH among Han Chinese population.     

胰岛素抵抗及血清瘦素异常与糖尿病合并脂肪肝的关系研究

Objective To study the relations among insulin resistance,abnormality of serum leptin level soluble leptin receptor(sLR) and the development of fatty liver in type 2 diabetes mellitue (DFL), so as to detect the partial pathogenesis. Methods 196 patients with type 2 diabetes mellitus were selected to retrospective study. The DFL group consisted of 96 patients who had already developed to fatty liver, while the NDFL group included 100 patients with no fatty liver. Biochemical test and insulin resistance were analysisd, and the level of serum leptin and sLR were also examined. Results The level of blood triglyceride(TG), high density lipoprotein(HDL), very low density lipoprotein( VLDL) between two groups were all statistical differences (t = - 8.124, 4.882, - 3.576, P < 0.01). The TG, HDL and VLDL level in DFL group were (3.25 ± 1.92), (1.11 ±0.28), (1.53 ± 0.60) mmol/L respectively. There was also a statistical difference in HOMA-IR level between the two groups (t = - 4.748, P < 0.01). HOMA-IR in DFL group was (4.82± 2.94), but no statistical difference in secretive function of beta cells (t = 0.123, P > 0.05). There was statistical difference in level of serum leptin and sLR between the two groups (t = - 7.435,13.332, P < 0.01); the leptin and sLR in DFL group were (4.34± 2.05) and (1.71 ± 0.53) fig/L respectively. Meanwhile, Pearson analysis showed that the blood TG level of the DFL group was positively correlated with HOMA-IR and leptin ( r = 0.845, P< 0.01; r = 0.742, P< 0.01); serum leptin level was positively correlated with HOMA-IR level (r = 0.852, P<0.01). However, serum sLR level showed negative correlation ( r = - 0.587, P < 0.01). Conclusions Insulin resistance and abnormality serum level of leptin and sLR might be one of the important causes for DFL, while abnormal lipid metabolism might be the secondary cause for this biochemical change.     

全胃切除术后3种不同空肠构建贮存袋与保持十二指肠连续性消化道重建患者生活质量的比较

Objective To compare the short-term quality of life after total gastrectomy in patients with gastric cancer with three recontructive methods of stamoch storage function. Methods Totally 62 cases underwent jejunal interposition afar total gastrectomy from March 2000 to December 2007. Patients were divided into three groups according to the procedures: functional jejunal interposition (FJI-type) group ( n = 23 ), modified jejunal interposition ( Ⅲ -type) group ( n = 20), and P-type jejunal interposition (P-type) group (n = 19). In each group,the patients' general conditions, the nutritional status at month 3 and 12, and gastrointestinal symptoms were evaluated. Results The durations of procedures were significantly different among three groups (P ＜0. 01 ). The intraoperative bleeding volume, postoperative complications, and food intake of each meal at month 3 were not significantly different ( P ＞ 0. 05 ). Compared with the data at month 3, the levels of hemoglobin and serum calcium at month 12 were significantly higher in all three groups (P ＜ 0. 01 ). Compared to the level at month 3, the level of serum albumin at month 12 significantly increased in FJI-type group (P ＜ 0. 05 ) but showed not significant difference in Ⅲ-type group and P-type group ( P ＞ 0. 05 ). The incidence of reflux esophagitis in three groups and the comparative parameters among the three groups at month 12 were not significantly different ( P ＞ 0. 05 ). Conclusions The jejunal interpositions after total gastrectomy will not increase the complexity and risk of the surgical procedure. In fact, they can reduce the reflux esophagitis and improve quality of life by keeping the storage function and restoring food passage through the duodenum. FJI-type is simpler than the other two types, and P-type is preferred for operations that need to open the pectoral cavity.     

冠心病患者血清前白蛋白及胆红素的临床意义

目的 探讨冠心病患者血清前白蛋白(PAB)和胆红素水平变化及其临床意义.方法 选取住院冠心病患者234例(冠心病组),其中稳定型心绞痛(SAP)80例,不稳定型心绞痛(UAP)84例,急性心肌梗死(AMI)70例;另选取同期住院的阵发性室上性心动过速患者77例作为对照组,分别测定血清PAB和胆红素水平并进行对比分析.结果 冠心病组血清总胆红素(TBIL)、直接胆红素(DBIL)及间接胆红素(IBIL)水平分别为(11.8±6.1)、(4.8±1.0)和(7.7±2.7)μmol/L,均显著低于对照组[分别为(14.6±5.6)、(6.2±1.3)和(9.5±6.1)μmol/L](P＜0.05).在冠心病组中,TBIL、DBIL、IBIL水平从SAP、UAP到AMI逐渐降低,但差异无统计学意义(P＞0.05).冠心病组血清PAB水平显著低于对照组[(205.55±5.68)mg/L比(229.78±9.62)mg/L](P＜0.05),在冠心病组中,SAP、UAP、AMI患者血清PAB水平分别为(215.73±7.98)、(214.12±3.79)和(195.75±7.07)mg/L,随病情逐渐加重,血清PAB水平逐渐降低,但差异无统计学意义(P＞0.05).结论 血清PAB和胆红素水平与冠心病患者的发生及其严重程度有关,在一定程度上可作为临床监测冠心病发病及严重程度的重要生化指标.

Abstract：

Objective To investigate the changes and clinical significance of serum prealbumin (PAB) and bilirubin in patients with coronary heart disease (CHD). Methods The levels of serum PAB and bilirubin were measured respectively in 234 patients with CHD (CHD group) and 77 patients with paroxysmal supraventricular tachycardia (PSVT, control group), and the former group was divided into stable angina pectoris (SAP) group with 80 patients,unstable angina pectoris (UAP) group with 84 patients and acute myocardial infarction (AMI) group with 70 patients,according to the chnical manifestation. Results The levels of total bilirubin (TBIL),direct bilirubin (DBIL) and indirect bilirubin (IBIL) in CHD group [ (11.8 ± 6.1 ), (4.8 ± 1.0) and (7.7 ± 2.7) μ mol/L] were significantly lower than those in control group [(14.6 ±5.6), (6.2 ±1.3) and (9.5 ±6.1)μmol/L] (P ＜0.05). The levels of TBIL, DBIL and IBIL decreased gradually from SAP group, UAP group to AMI group, but there was no significant difference among three groups (P ＞ 0.05 ). The levels of serum PAB in CHD group were also significantly lower than those in control group [(205.55 ±5.68) mg/L vs.(229.78 ± 9.62) mg/L] (P ＜ 0.05),and decreased gradually from SAP group,UAP group to AMI group [(215.73 ± 7.98), (214.12 ± 3.79) and (195.75 ± 7.07) mg/L],but there was no significant difference among three groups (P ＞ 0.05 ). Conclusion The levels of serum PAB and bilirubin are related to the severity of CHD, and can be used as important biochemical indicators in monitoring the attack and severity in patients with CHD.     

载脂蛋白A5基因多态性及血清水平与代谢综合征的相关性研究

目的探讨载脂蛋白A5（ApoA5）基因多态性及其血清水平与代谢综合征的相关性。方法选择代谢综合征（MS）患者100例（代谢综合征组）和健康人100例（对照组）。用ELISA法检测两组的载脂蛋白A5血清浓度,采用PCR—RFLP法测定两组的ApoA5—1131T〉C基因多态性,并用全自动分析仪测空腹血糖（FPG）、总胆固醇（TC）、甘油三酯（TG）、低密度脂蛋白（LDL）、高密度脂蛋白（HDL）及白细胞、血红蛋白、血小板、肝肾功能。结果代谢综合征组与对照组比较：ApoA5血清浓度明显降低[（96．68±18．09）n∥mlvs（128．32±23．78）μg／ml,P〈0．01],TG明显升高[（2．35±1．07）mmol／LVS（1．62±1．13）mmol／L,P〈0．01）],而且代谢综合征组的ApoA5—1131C基因型频率明显高于对照组（30％vs16．5％,P〈0．05）。结论代谢综合征患者的ApoA5血清浓度明显降低,ApoA5—1131C与代谢综合征有相关性。     

血栓素合酶基因Rs10487667多态性与新疆维吾尔族心肌梗死的关联

目的 分析血栓素合酶基因(CYP5A1)Rs10487667多态性与新疆维吾尔族心肌梗死(MI)的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法,对318例MI患者(MI组)和232名健康受试者(对照组)CYP5A1基因Rs10487667位点进行检测,同时进行血清血栓素(TXB2)水平测定.采用非条件多元logistic回归分析综合评价各因素与MI的关系.结果 CYP5A1基因Rs10487667在MI组和健康对照组中基因型频率分别为:GG型0.204(65/318)和0.155(36/232),GT型0.553(176/318)和0.466(106/232),TT型0.242(77/318)和0.379(88/232),两组GG基因型差异具有统计学意义(x2=12.193,P=0.002),且MI组G等位基因频率[0.481(306/636)]高于对照组[0.388(180/464)](x2=9.449,P=0.021),而GT和TT基因型差异无统计学意义(x2=0.699,P＞0.05);MI组血清TXB2水平[(184.3±34.7)pg/ml]明显高于对照组[(124.3±28.1)pg/ml],差异具有统计学意义(t=5.503,P=0.034);MI组和对照组GT+GG基因型TXB2水平分别为(164.21±22.56)、(134.26±19.83)pg/ml,均较TT基因型者[分别为(113.67±54.23)、(98.54±13.11)pg/ml]增高,差异具有统计学意义(t值分别为5.433、5.108,P值均＜0.05).logistic回归分析显示,调整传统危险因素的干扰后,CYP5A1 G等位基因仍为MI的独立危险因素(OR=1.673;95%CI:1.020～2.156).结论 CYP5A1基因Rs10487667基因多态性和新疆维吾尔族MI的发生具有相关性,可能和基因变异导致的血清TXB2水平升高有关.     

脂联素基因多态性与新疆地区汉族2型糖尿病的相关性研究

目的研究脂联素(APN)基因45T/G单核苷酸多态性(SNPs)与新疆地区汉族人2型糖尿病(T2DM)的相关性。方法采用聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP),比较新疆地区汉族人正常糖耐量组(NGT)和T2DM组APNSNP45基因型与等位基因分布频率差异;比较相同人群不同基因型和不同人群相同基因型T2DM相关体测与生化指标的差异。结果 T2DM组APNSNP45TG+GG基因型及G等位基因分布频率均高于NGT组(P﹤0.005);NGT组TG+GG基因型者血清甘油三酯(TG)、总胆固醇(CH)和低密度脂蛋白(LDL)水平显著高于TT基因型者(P﹤0.005),相同基因型人群之间,T2DM组收缩压(SBP),体重指数(BMI),腰臀比(WHR),空腹血糖(FBG),胰岛素抵抗指数(LOG(HOMA-IR)),TG,CH及LDL均高于NGT组(P﹤0.05);胰岛β细胞功能指数(LOG(HOMA-β))和高密度脂蛋白(HDL)水平均低于NGT组(P﹤0.005)。结论 APNSNP45T/G多态位点与新疆地区汉族T2DM相关,携G等位基因者发生T2DM的可能性增加,且G等位基因与汉族血脂代谢异常及胰岛素抵抗有关。     

环氧化酶-2基因-765G＞C和前列环素合酶基因C1117A多态性与新疆维吾尔族人群心肌梗死的相关性研究

目的 探讨环氧化酶-2(COX-2)基因-765G＞C和前列环素合酶(PGIS)基因C1117A多态性与新疆维吾尔族人群心肌梗死的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法,对新疆维吾尔族178例心肌梗死患者和175名健康体检者COX-2基因-765G＞C和PGIS基因C1117A多态性进行检测,同时进行血清6-酮-前列环素F1α水平及其他生化指标测定.结果 (1)PGIS基因C1117A不同基因型在心肌梗死组和健康对照组中频率分别为:CC型75.84%和64.57%,CA型17.42%和28.29%,AA型6.74%和9.14%,两组基因型和等位基因频率差异具有统计学意义(P＜0.05);(2)COX-2基因-765GG基因型在心肌梗死组为78.65%,明显高于对照组(55.43%),差异具有统计学意义(P＜0.01),但-765GC和-765CC基因型在心肌梗死组分布频率(19.66%和1.69%)明显低于健康对照组(34.86%和9.71%),差异具有统计学意义(P＜0.05或P＜0.01),且等位基因频率差异亦有统计学意义(P＜0.01);(3)联合基因分析显示,心肌梗死组PGIS基因1117CC基因型+COX-2基因-765GG基因型频率显著高于对照组(P＜0.01),具有该联合基因型者发生心肌梗死的风险(OR=3.87)明显高于单独具有PGIS基因1117CC基因型(OR=1.72)或COX-2基因-765GG基因型(OR=2.94)者;(4)心肌梗死组6-酮-前列环素F1α水平较对照组降低,差异具有统计学意义(P＜0.05);在PGIS基因C1117A不同基因型之间及COX-2基因-765G＞C不同基因型之间,6-酮-前列环素F1α水平的差异无统计学意义(P＞0.05);但具有COX-2基因-765GG+PGIS基因1117CC联合基因型者6-酮-前列环素F1α水平明显降低于其他基因型,差异具有统计学意义(P＜0.05).结论 PGIS基因CC基因型和C等位基因及COX-2基因-765GG基因型和G等位基因与新疆维吾尔族人群心肌梗死的发生具有相关性;携带COX-2基因-765GG+PGIS基因CC联合基因型者发生心肌梗死的风险显著增加,可能和该联合基因型导致的血清前列环素水平降低有关;COX-2基因-765CC基因型和C等位基因可能是新疆维吾尔族人群心肌梗死发生的保护因子.     

CTLA-4基因第1外显子49位点基因多态性与2型糖尿病的相关性研究

目的探讨细胞毒性T淋巴细胞相关抗原（CTLA-4）基因第1外显子49位点基因多态性与2型糖尿病（T2DM）的相关性。方法利用聚合酶链反应（PCR）-限制性酶切长度多态性（RFLP）的方法检测T2DM组111例和对照组（NC组）39例CTLA-4基因第1外显子49位点多态性。结果T2DM组与NC组CTLA-4基因第1外显子49位点基因型分布及等位基因频率比较差异无统计学意义（P〉0．05）。T2DM患者各基因型的临床资料比较：GG组的总胆固醇有下降趋势。CTLA-4基因第1外显子49位点GG基因型有起病年龄相对更早的趋势和胰岛素应用比例更高的趋势。结论CTLA-4基因第1外显子49位点基因多态性分布与T2DM发病无明显相关性，但G等位基因仍有可能是T2DM的易感因素之一。     

亚甲基四氢叶酸脱氢酶G1958A基因多态性与先天性心脏病的遗传易感性

探讨MTHFD基因多态性在先天性心脏病(CHD)遗传易感性中的作用。方法选择辽宁省179例CHD患者及其父母作为病例组，同一地区年龄、性别匹配的122名正常人及其父母作为对照组，采用PCR-RFLP方法检测其MTHFD基因型，放射免疫法和荧光偏振免疫法测定血清叶酸和同型半胱氨酸(Hcy)水平，比较两组差异，并进行CHD核心家庭分析。结果中国北方正常人群中，存在着该位点的基因多态性，GG、GA和AA基因型频率分别为57.98％、35.57％和6.45％，A等位基因频率为24.23％，与西方人群有差异；CHD患者总体和分类型的基因型频率和等位基因频率与对照组相比差异无显著性；遗传失衡检验分析结果表明，MTHFD G1958A位点在CHD核心家庭中不存在传递失衡现象；CHD患者血清叶酸水平高于对照组，Hcy水平与对照组相比差异无显著性。结论MTHFD G1958A位点基因多态性可能不是CHD的遗传易感因素。     

白细胞介素-6基因启动子区域634位点单核苷酸多态性分布及其与儿童营养状况的相关性

目的 研究白细胞介素-6(IL-6)-634C/G基因多态性在中国汉族儿童中的分布及与体重指数(BMI)和血糖、血脂及25-羟维生素D代谢的相关性,探索基因多态性与儿童营养状况、糖尿病及维生素D缺乏所致疾病的关系.方法 测量214名8～12岁山西籍汉族学龄儿童的体重、身高,计算BMI.采集晨起空腹静脉血,采用聚合酶链反应-限制性片段长度多态性基因分析方法,检测214名儿童的IL-6基因634C/G多态性,测定其血糖、血脂、25-羟维生素D水平.比较不同性别基因型和等位基因的分布及不同基因型血糖、血脂、25-羟维生素D的差异.结果 汉族儿童人群中IL-6基因634位点存在CC、CG、GG 3种基因型,其中GG占15％、GC占40％、CC占45％;C和G等位基因频率分别为65％、35％.基因型和等位基因分布性别差异均无统计学意义(P＞0.05).正常儿童与超重及肥胖儿童比较,基因型分布差异有统计学意义,超重及肥胖儿童GG基因型频率(38.3％)高于正常(7.3％)及消瘦儿童(10.9％)基因型(x2=36.596,P=0.000).多因素分析显示,血三酰甘油浓度与儿童超重和单纯肥胖的发生有相关性,GG基因型是儿童超重和单纯肥胖发生的独立危险因素(P＜0.05).25-羟维生素D与BMI(r=0.075,P=0.528)、血糖(r=0.018,P=0.880)、三酰甘油(r=-0.097,P=0.417)、高密度脂蛋白胆固醇(r=0.038,P=0.751)、低密度脂蛋白胆固醇(r=-0.028,P=0.817)均无相关性,25-羟维生素D在正常儿童和超重及肥胖儿童间差异无统计学意义(P＞0.05).25-羟维生素D缺乏者与合适水平者3种基因型分布差异无统计学意义(x2=0.622,P=0.733).结论 IL-6-634C/G位点在山西籍汉族儿童中存在着多态性,且分布性别差异无统计学意义.IL-6-634基因多态性是导致儿童期超重及单纯性肥胖的一个遗传因素,与人体脂代谢相关,与糖代谢无直接关联.IL-6-634C/G位点基因多态性与血25-羟维生素D无关,与维生素D缺乏性疾病无关,可能与骨代谢无关.25-羟维生素D与血糖、血脂均无关,与儿童超重及肥胖无关.     

新疆哈萨克族儿童基因rs9930506多态性与超重、肥胖的关联

目的 研究新疆哈萨克族学龄儿童体脂量和肥胖症相关基因(FTO)rs9930506与超重、肥胖的关系.方法 2009年5-6月采用整群抽样法在新疆伊犁哈萨克族自治州选取118名超重、肥胖儿童作为研究对象,对照组为141名体重正常的儿童.应用聚合酶链反应-限制性片段长度多态性技术分析2组儿童rs9930506位点多态性,同时使用自动生化仪酶法检测血糖、血脂,放射免疫法检测胰岛素浓度.结果 rs9930506在超重、肥胖组和对照组中基因型频率分别为:AA型0.458、0.582;AG型0.492、0.397;GG型0.050、0.021.两组AA、AG和GG基因型频率分布差异无统计学意义(x2=4.795,P=0.091),但GG+AG基因型频率在超重、肥胖组(0.542)高于对照组(0.418),差异有统计学意义(x2=3.957,P=0.047);A等位基因频率在超重、肥胖组和对照组分别是0.703、0.780,差异有统计学意义(x2=3.986,P=0.046).超重、肥胖组中GG;+AG基因型人群及AA基因型者的空腹血糖水平分别是(4.93±0.52)、(4.69±0.56)mol/L(t=2.430,P=0.017),臀围分别是(79.70±11.73)、(75.28±11.52)cm(t=2.053,P=0.042),体质指数(BMI)分别是(21.61±2.72)、(19.92±1.98)kg/m2(t=3.891,P=0.000),GG+AG基因型人群空腹血糖水平(t=2.430,P=0.017)、臀围(t=2.053,P=0.042)、BMI(t=3.891,P=0.000)均高于AA基因型者.结论 FTO基因rs9930506多态性和新疆哈萨克族学龄儿童超重、肥胖相关,与空腹血糖水平、臀围、BMI差异具有相关性.     

热休克蛋白70-2（HSP70-2）基因多态性与冠心病的相关性研究

目的 探讨热休克蛋白70-2（HSP70-2）基因＋1267A/G多态性在中国汉族人群中的分布及与冠心病的相关性.方法 采用聚合酶链反应-限制性片段长度多态性技术,对汉族185例冠心病患者及149名正常人群HSP70-2基因＋1267A/G多态性,基因型及等位基因分布进行研究.结果 研究人群中存在HSP70-2基因＋1267A/G多态性,基因型符合Hardy-Weinberg平衡,冠心病患者G等位基因频率显著高于对照组（61.89%vs51.68%,P＜0.01）.Logistic回归分析得出：HSP70-2基因＋1267A/G多态性（AG＋GG）基因型是冠心病的独立危险因素,（AG＋GG）基因型比AA基因型的OR=2.031,95%CI=1.024～4.026.结论 HSP70-2基因＋1267A/G多态性与冠心病有关,G等位基因可能是汉族人群冠心病的遗传危险因素.     

冠心病患者载脂蛋白A V与脂联素关系研究

目的 探讨冠心病患者血清载脂蛋白(Apo)AV与脂联素之间的关系.方法 检测59例冠心病患者(冠心病组)和40例对照者(对照组)的血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、ApoA I、ApoB,同时采用酶联免疫吸附法测定血清ApoAV和脂联素水平.结果 冠心病组血清TG显著高于对照组[(1.79±1.28)mmol/L比(1.27±0.79)mmol/L],HDL-C显著低于对照组[(1.17±0.25)mmol/L比(1.29±0.26)mmol/L],ApoAV显著低于对照组[(186.71±78.20)μg/L比(250.29±110.38)μg/L],脂联素亦显著低于对照组[(3.81±0.15)mg,L比(5.33±0.37)mg/L],P<0.05或<0.01.ApoAV与TG呈负相关 r=-0.208,P=0.040),与HDL-C(r=0.241,P=0.016)、脂联素(r=0.238,P=0.018)呈正相关.结论 冠心病患者血清ApoAV和脂联素水平降低,TG水平增高.ApoAV与脂联素共同影响动脉粥样硬化的发展.