冠心病患者TNF-α水平及其基因多态性的研究

为了研究中国汉族人群中血清肿瘤坏死因子-α(TNF-α)水平及其-857、-863位点基因多态性与冠心病之间的相关性, 采用双抗体夹心ELISA法检测血清TNF-α水平,同时应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测TNF-α基因多态性. 冠心病组血清TNF-α水平显著高于对照组(P<0.05),-863 位点基因多态性在两组间分布有显著差异(P<0.05),-857位点分布无差异.血清TNF-α水平显著升高提示炎性反应在冠心病病程中有重要作用,TNF-α的水平受其基因多态性的影响.     

IL-6基因多态性与小儿全身炎症反应综合征的相关性研究

目的探讨白细胞介素-6（Interleuk in-6,IL-6）基因多态性与小儿全身炎症反应综合征（system ic inflamm atory response syndrom e,SIRS）的关系。方法 30例SIRS患儿为SIRS组,随机挑选30例健康体检的小儿为对照组,采用限制片段长度多态分析聚合酶链反应方法（PCR/RFLP）对2组儿童的IL-6基因的-174位点和-572位点基因进行分析;并应用酶联免疫吸附试验法（ELISA）检测2组儿童的血清IL-6水平,观察基因型对血清IL-6水平的影响。结果 IL-6基因-572位点基因型和等位基因频率在2组间分布差异有统计学意义,SIRS组GG基因型和G等位基因频率均显著高于对照组（P〈0.05）;携带G等位基因个体患SIRS的风险约是C等位基因型个体的6.84倍（OR95%CI：2.62～17.89,P〈0.05）;G等位基因携带者IL-6血清含量显著高于CC基因携带者（P〈0.05）。IL-6基因启动子-174位点在SIRS组与对照组中只发现GG基因型,CG和CC基因型在2组中均未发现;SIRS组IL-6血清水平显著高于对照组（P〈0.05）。结论 IL-6基因-572C/G多态性可能是中国汉族儿童SIRS发病的遗传危险因素之一,血清IL-6水平可能受其基因多态性的影响。而IL-6基因-174G/C多态性与中国汉族儿童SIRS发病可能不具有相关性。     

载脂蛋白A5基因-1131 TC、-12238 TC位点SNP与男性冠心病及血脂水平的相关性

目的研究男性患者中载脂蛋白A5基因(apolipoprotein A5 gene,APOA5)-1131 TC、-12238 TC位点多态性与冠心病及血脂水平的关系。方法选取2013.1-2015.1期间我院收治的男性冠心病患者226例作为观察组,同期选择195例来我院体检的男性健康人作为对照组。均采用聚合酶联反应-限制性片段长度多态性分析,检测-1131 TC、-12238 TC位点基因多态性,并测量血脂水平,观察多态性与冠心病、血脂的关系。结果两组对象-1131TC、-12238 TC位点中TT基因型均无差异,P0.05;而TC、CC基因型均有差异,P0.05;-1131 TC、-12238 TC位点中TC基因型与TT、CC基因型的TG、TC水平均有差异,P0.05;而HDL-C、LDL-C水平各基因型均无差异,P0.05。结论 TC、CC基因型与男性冠心病具有一定关系,而TC基因型对血脂TG、TC有明显影响,可能是引起冠心病的原因之一。     

青霉素过敏人群IL-18血清浓度以及启动子区基因多态性研究

目的：探讨青霉素类抗生素过敏反应与IL-18及其基因多态性的关系。方法：采用ELISA方法检测50例正常对照和67例过敏患者血清中IL-18水平,PCR-SSP法检测IL-18启动子区多态性位点的基因型。结果：青霉素过敏组IL-18血清浓度显著高于正常对照组（P〈0.01）,且随着皮试反应程度的增强,IL-18浓度也随之升高;青霉素过敏病人IL-18-607位点A等位基因出现频率显著高于对照组（P〈0.01）,CA＋CC基因型降低了青霉素过敏发生的风险性[2=5.868,P〈0.05,OR=3.910,95%Cl（1.225,12.478）]。不同基因型患者血清中IL-18浓度无显著性差异。结论：青霉素过敏反应与IL-18升高有关,IL-18基因启动子区-607C/A位点多态性与青霉素过敏显著相关。     

易感基因多态性与支气管哮喘的相关性研究

目的:探讨白介素-4(Interleukin-4,IL-4)基因589位点、白介素-4受体(interleukin-4 receptor,IL-4R)基因576位点多态性与内蒙古地区汉族支气管哮喘患者是否存在遗传易感性,是否与血清总IgE浓度相关.方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测内蒙古地区62例支气管哮喘患者和30例汉族正常人群IL-4基因的589位点、IL-4R基因的576位点多态性,进行基因型和基因频率分析,同时采用Elisa法检测患者血清总IgE浓度.结果:哮喘组IL-4基因启动子区-589(C/T)位点多态性分布频率与对照组比较,两组间基因型频率分析(X2=3.437,P=0.179),无显著性统计学差异(P＞0.05);两组基因频率分析(X2=9.405,P=0.002),有显著性差异(P＜0.05).哮喘组IL-4R基因启动子区-576(Q/R)位点多态性分布频率与对照组比较,两组间基因型频率分析(X2=0.815,P=0.665),无显著性统计学差异(P＞0.05),两组基因频率分析(X2=0.245,P=0.621),无显著性差异(P＞0.05).哮喘组血清总IgE浓度高于对照组,有显著性差异(t=6.367,P=0.00,P＜0.05).结论:内蒙古地区汉族人群哮喘组中,IL-4基因启动子区-589(C/T)位点多态性与支气管哮喘的发病无显著性差异;IL-4R基因-576(Q/R)位点多态性与支气管哮喘的发病无显著性差异;患者组血清总IgE显著高于对照组,但是与IL-4基因启动子区-589(C/T)位点多态性和IL-4R基因-576(Q/R)位点多态性没有相关性.     

吉林人群强直性脊柱炎6号染色体短臂上的HLA区域遗传易感基因定位研究

为了寻找中国人群中与强直性脊柱炎相关的新的易感基因及其所在位置, 在与强直性脊柱炎强连锁的6 号染色体短臂上的HLA基因区域内选取11个SNPs多态位点, 通过对中国吉林地区79名AS患者和132名正常对照者进行case-control分析, 发现TNF-a -850处TT突变基因型在AS组中的分布高于正常对照组（P=0.027）, 突变型T等位基因在AS组和正常对照组中的分布差异更为显著（P=0.002）。通过多位点之间的连锁不平衡分析发现, LTA基因、TNF-a基因、LST1基因和NCR3基因中的 5个SNPs多态位点之间存在连锁不平衡, 范围是15 kb, 在这5个SNPs多态位点组成的单体型中, TCTTC单体型在AS组和正常对照组中的分布有显著差异（c2=7.406, P=0.0065）,并且该单体型中含有具有统计学意义的TNF-a –850的突变型等位基因T。提示在LTA、TNF-a、NCR3和LST1 这4个基因构成的15 kb范围内可能存在增加AS患病易感性的位点, 可能是TNF-a –850 C→T突变, 也可能是在TNF-a –850附近的其他位点。     

脑源性神经营养因子基因多态性与注意缺陷多动障碍的关联性研究

目的：探讨脑源性神经营养因子（Brain-derivedneurotrophicfactor,BDNF）G196A、C270T及Val66Met3个单核苷酸多态性（SNP）位点与注意缺陷多动障碍（ADHD）的关系。方法：选取无亲缘关系的ADHD患者共114例,健康对照共96例。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测G196A、C270T和Val66Met3个多态性位点的多态性,采用HaploView4.0及SPSS13.0软件进行连锁不平衡分析并比较两组基因型分布和等位基因频率。结果：BDNF三个多态性位点基因型及等位基因频率分布均符合Hardy-Weinberg定律。ADHD组G196A和C270T多态性位点分布与正常对照组比较差异无统计学意义,而BDNF基因Val66Met位点的基因型及等位基因频率分布在ADHD组与对照组存在显著性差异（p〈0.05）,ADHD组Val66Met位点的等位基因G（Val）频率显著高于正常对照组。结论：BDNF基因Val66Met多态性可能与ADHD发病有关,携带有Val66Met多态性位点G等位基因的个体可能更容易产生ADHD。     

不明原因复发性自然流产夫妇MTHFR C677T位点多态性分析

目的：分析不明原因复发性自然流产（URSA）夫妇与亚甲基四氢叶酸还原酶基因C677T（MTHFR C677T）位点多态性的关 联性研究。方法：采用聚合酶链式反应- 限制性片段长度多态性( PCR-RFLP)对URSA 组和对照组各50 对夫妇的外周血进行 MTHFR C677T 的位点多态性进行检测分析。结果：URSA 组MTHFR 基因677 位点的T/T、C/T+T/T 基因型的发生频率显著高于 对照组,差异具有统计学意义(P<0.05),而对照组MTHFR 基因677 位点的C/C 基因型发生频率显著高于URSA 组（P<0.05）,两 组MTHFR 基因677 位点的C/T 基因型比较无明显差异（P>0.05)。另外URSA 组等位基因T 明显高于C 的频率,且URSA 组等 位基因T 发生频率显著高于对照组,对照组等位基因C 发生频率显著高于USRA 组,差异均具有统计学意义（P<0.05）。结论： MTHFR C677T 位点的多态性与URSA 的发生密切相关,是该病的重要遗传风险因素。     

北方汉族人群白细胞介素-6基因-572C/G单核苷酸多态性与冠心病的相关性研究

目的:探讨中国北方汉族人群中白细胞介素-6(IL-6)基因启动子区-572C/G单核苷酸多态性与冠心病的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测434例冠心病(冠心病组)患者和417名非冠心病人(对照组)的IL-6基因型,探讨-572C/G单核苷酸多态与冠心病的关系。结果:IL-6基因-572C/G多态位点的CC、CG和GG基因型在冠心病组中分别为59.68%、37.09%、3.23%,等位基因频率C和G分别为78.23%、21.77%;在健康成年者中基因型分别为67.87%、30.22%、1.92%,等位基因频率C和G分别为82.97%、17.03%。IL-6基因-572C/G位点多态性在两组人群中的分布差异存在显著性(P<0.05);经Logsitic回归校正性别、年龄、体重指数、高血压病、糖尿病、高胆固醇血症及吸烟等冠心病易患因素后,IL-6基因-572C/G单核苷酸多态是冠心病发病的独立的危险因素(P<0.05);等位基因频率的相对风险分析发现,G等位基因携带者患冠心病的风险是C等位基因的1.356倍〔OR=1.356,95%CI=1.0648～1.7279〕。...     

ICAM-1K469E 位点A 等位基因可降低EV71 手足口病发生率

目的:研究ICAM-1基因K469E位点、MCP-1A2518G位点基因多态性及sICAM-1、MCP-1在血清中表达水平与EV71手足口病的关系,探讨EV71型手足口病的遗传易感因素。方法:运用限制性片段长度多态性-聚合酶链反应(PCR-RFLP)检测急性期EV71感染阳性的手足口病患儿和正常儿童中ICAM-1K469E位点及MCP-1A2518G位点碱基变异情况,同时采用双夹心抗体法(ELISA)检测血清sICAM-l和MCP-1水平。结果:EV71手足口病组患儿血清中sICAM-l和MCP-1水平均显著高于正常对照组(P均<0.01)。EV71手足口病组ICAM-1K469E位点中,A等位基因的频率显著低于对照组(x2=6.897,P<0.01)。EV71手足口病组患儿MCP-1基因型分布、等位基因频率与对照组比较均无统计学意义(P>0.05)。结论:sICAM-1表达水平和其基因K469E位点多态性与EV71手足口病有关,A等位基因可降低EV71手足口病发生率。MCP-1表达水平与EV71手足口病感染有关,但MCP-1A-2518G位点基因多态性与EV71手足口病感染无关。     

Association of TNF-alpha/LTA polymorphisms with Crohn's disease in Koreans

Polymorphisms of the proinflammatory and immunoregulatory cytokines, tumor necrosis factor-alpha (TNF-alpha) and lymphotoxin-alpha (LTA), have been shown to affect their production and be associated with Crohn's disease. However, the actual alleles associated with the disease are variable among populations. The aim of this study was to test whether TNF-alpha and LTA polymorphisms were associated with Crohn's disease risk in Korean samples. Genotyping for five TNF-alpha promoter polymorphisms (-1031, -863, -857, -308, and -238) and two LTA polymorphisms (intron 1 and Thr60Asn) were performed on 289 Korean patients with Crohn's disease and 399 unrelated healthy controls. Carriers of an individual polymorphism of TNF-alpha at -857T, showed statistically significant association with Crohn's disease (adjusted OR=1.64, 95% CI=1.11-2.41, P=0.013). Following haplotype analysis, carriers of the haplotype consisted of the -1031C, -863A, and -857C alleles showed statistically significant association with Crohn's disease (adjusted OR=1.54, 95% CI=1.02-2.32, P=0.040). Significantly reduced frequencies were seen for the carriers of the LTA Thr60Asn polymorphism in patients (OR=0.62; 95% CI=0.42-0.93, P=0.019), suggesting a protective effect on Crohn's disease. Our data support the hypothesis that the TNF-alpha/LTA genotypes play an important role in the pathogenesis of Crohn's disease in Koreans.     

Studies on Correlation Between Single-Nucleotide Polymorphisms of Tumor Necrosis Factor Gene and Different Stages of Ankylosing Spondylitis

To examine if there is any correlation between ankylosing spondylitis (AS) and TNF-α gene promoter single-nucleotide polymorphisms (SNP) and their associated haplotypes. Using restriction fragment length polymorphism—polymerase chain reaction method, the polymorphism of TNF-α-238, -308, -850, -857, -863 locus, and TNF-β +252 were analyzed in patients with progressive AS, stable AS and control. (1) Neither the genotypes nor the allele frequencies of TNF-α (-308), (-238), (-863), and TNF-β +252 showed differences in each group. TNF-α (-850) CC genotype and C allele frequency distribution was significantly higher in healthy controls group than in the stable and progressive groups. TNF-α (-857) CT, CC genotype, and C, T allele frequency showed differences in all groups. (2) Polymorphism linkage equilibrium test revealed that association of six TNF-α, β gene SNPs with haplotype GACTCG in progressive group is significantly higher than in the stable group and healthy control group (P < 0.05). TNF-α (-857), (-850) gene polymorphism may increase the susceptibility to AS, but do not reflect the disease active state. The CC genotype and C allele may play a protective role in the pathogenesis of AS. TNF-α (-308) may be a weak indicator reflecting the active state of AS. Haplotype GACTCG may indicate both the susceptibility and the activity of AS.     

Association of TNF-alpha genetic polymorphisms with hepatocellular carcinoma susceptibility: a case-control study in a Han Chinese population

The single nucleotide polymorphisms (SNPs) within the tumor necrosis factor-a (TNF-a) gene promoter region have been reported to be associated with susceptibility to various types of cancers. A case-control study (126 hepatocellular carcinoma [HCC] patients and 126 normal controls) was conducted to elucidate their possible association with the risk of hepatitis B virus (HBV)-related HCC in a Han Chinese population. TNF-alpha polymorphisms -1031T/C, -863C/A, -857C/T, -308G/A, and -238G/A were genotyped by polymerase chain reaction (PCR) and direct DNA sequencing. Disease associations were analyzed by the chi-square test or Fisher's exact test. When analyzed by overall groups, no significant differences in genotype and allele distributions were observed between the control and cases. However, stratified analysis according to sex showed that the frequency of the homozygous C allele of the -857 polymorphism was lower in female cases than in female controls (62.9% vs. 88.9%, p=0.026). In addition, further haplotype analysis revealed that the TCCGA (-1031/-863/-857/-308/-238) was more frequent in controls than cases (p=0.018; odds ratio = 0.266; 95% confidence interval, 0.083-0.857). These results indicated that the TNF-alpha-857C/T polymorphism may modify HBV-related HCC risk among women, and the haplotype TCCGA (-1031/-863/-857/-308/-238) may account for a decreased susceptibility to HCC development in the Han Chinese population. Additional studies in patients with different ethnic backgrounds are needed to validate these finding and to further explore the genetic pathogenesis of HBV-related HCC.     

中西医结合治疗对T2DM合并CHD患者血糖、血脂及血管内皮功能的影响

目的:探讨中西医结合治疗对2型糖尿病(T2DM)合并冠心病(CHD)患者血糖、血脂及血管内皮功能的影响。方法:将120例T2DM合并CHD患者上随机分为研究组与对照组各60例,在原饮食、运动疗法及降压、降糖治疗方案不变的条件下,对照组加用阿托伐他汀钙片治疗,研究组加用阿托伐他汀钙片与降脂通脉胶囊治疗。检测和比较两组治疗前后总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、空腹血糖(FBG)、餐后2h血糖(2h PBG)、一氧化氮(NO)及内皮素(CE)-1水平的变化。结果:两组治疗后FBG、2h PBG水平均较治疗前明显下降(P0.05),而组间比较差异无统计学意义(P0.05)。两组治疗后TG、TC、LDL-C水平均较治疗前明显下降(P0.05),HDL-C水平均较治疗前明显升高(P0.05),且研究组TG、TC、LDL-C水平显著低于对照组(P0.05),HDL-C水平显著高于对照组(P0.05)。两组治疗后血清NO水平均较治疗前明显升高(P0.05),血清CE水平均较治疗前明显下降(P0.05),且研究组血清NO水平明显高于对照组(P0.05),血清CE水平明显低于对照组(P0.05)。两组治疗过程中均未见明显不良反应。结论:降脂通脉胶囊联合阿托伐他汀可显著改善T2DM合并CHD患者的血脂和血管内皮功能,但不会进一步降低血糖。     

乌司他丁治疗不同类型急性胰腺炎的临床疗效

目的:探讨乌司他丁用于治疗不同类型急性胰腺炎的临床疗效和安全性。方法:收集2013年1月至2014年1月我院收治的急性胰腺炎患者84例,随机分为观察组与对照组,每组各42例,两组患者均给予常规治疗,对照组加用奥曲肽治疗,观察组在对照组的基础上加用乌司他丁治疗,观察和比较两组患者的临床疗效、治疗前后血清IL-6和TNF-α水平的变化及不良反应的发生情况。结果:观察组的总有效率为96.72%,显著高于对照组的85.71%;其中,两组急性水肿型胰腺炎的疗效相当(P0.05),但观察组出血坏死型胰腺炎的有效率显著高于对照组(P0.05)。治疗后,两组血清IL-6与TNF-α水平均较治疗前显著降低,并且观察组显著低于对照组(P0.05),水肿型胰腺炎患者血清IL-6及TNF-α水平显著低于出血坏死型胰腺炎患者,差异均具有统计学意义(P0.05)。两组均未发生肝肾功能损害,未见药物相关性不良反应。结论:乌司他丁用于辅助治疗急性胰腺炎能够明显下调炎症因子水平,临床疗效显著,对急性水肿型胰腺炎的疗效尤为显著,安全性好,值得推广应用。     

右美托咪定复合七氟醚对先天性心脏病介入封堵术患儿血流动力学、氧化应激反应和心肌损伤的影响

摘要 目的：观察右美托咪定复合七氟醚对先天性心脏病（CHD）介入封堵术患儿血流动力学、心肌损伤和氧化应激反应的影响。方法：选择2016年1月-2020年12月期间在我院择期行介入封堵术的CHD患儿 106例。按照住院号奇偶顺序将患儿分为对照组（七氟醚麻醉）和观察组（右美托咪定复合七氟醚麻醉）,各53例。观察两组围术期间的血流动力学、氧化应激反应和心肌损伤指标变化情况,记录两组患儿苏醒即刻的躁动评分和镇静评分、苏醒时间和围术期间的不良反应发生率。结果：两组T0~T4时间点心率（HR）均呈先升高后降低趋势,平均动脉压（MAP）均呈先降低后升高趋势（P<0.05）。术后24 h,观察组血清超氧化物歧化酶(SOD)水平高于对照组,丙二醛(MDA)水平低于对照组（P<0.05）。术后24 h,观察组血清肌酸激酶同工酶(CK-MB)、心肌肌钙蛋白 I(cTnI)、心脏型脂肪酸结合蛋白(H-FABP)水平均低于对照组（P<0.05）。观察组苏醒即刻的躁动评分低于对照组（P<0.05）。两组患儿不良反应总发生率对比无差异（P>0.05）。结论：右美托咪定复合七氟醚应用于行介入封堵术的CHD患儿,可减少躁动发生情况,同时不影响患儿血流动力学和苏醒情况,在减轻氧化应激、心肌损伤方面亦有一定的积极意义。     

美常安联合柳氮磺吡啶治疗溃疡性结肠炎的疗效及对血清TNF-alpha、IL-6、 IL-8水平的影响

目的：探索美常安联合柳氮磺吡啶治疗溃疡性结肠炎（UC）的疗效,及对血清TNF-alpha、IL-6、IL-8 水平的影响。方法：选择自 2012 年9月至2014 年12 月我院收治的100例UC 患者,按照随机数表法分成对照组和观察组,每组50 例。对照组患者口服给 予柳氮磺吡啶,观察组患者口服给予美常安联合柳氮磺吡啶治疗。统计分析两组患者的临床有效率、症状改善、不良反应发生情 况及治疗前后患者血清中TNF-alpha、IL-6、IL-8 水平的变化。结果：观察组中总有效率为92.00%显著高于对照组中总有效率为 48.00%（P<0.05）;两组患者治疗后的主要临床症状较治疗前均有明显改善（P<0.05）,且观察组患者治疗后主要症状缓解率明显高 于对照组（P<0.05）;两组患者治疗后血清中TNF-alpha、IL-6、IL-8 水平均显著低于治疗前,且观察组明显低于对照组（P<0.05）;两组患 者不良反应发生率之间的差异无统计学意义（P>0.05）。结论：美常安联合柳氮磺吡啶治疗UC具有良好的临床疗效,能显著改善 患者的临床症状和患者血清中炎症因子的水平,值得在临床上推广使用。     

Serum IGF-1, IGFBP-3 and growth hormone levels in children with congenital heart disease: relationship with nutritional status, cyanosis and left ventricular functions

In this study we aimed to evaluate serum insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3) and growth hormone (GH) levels in children with congenital heart disease (CHD) and to determine if these parameters have any relationship to the cyanosis, nutritional status and the left ventricular systolic function. This study is prospective-randomized study which conducted in 94 CHD patients (36 girls and 58 boys, aged between one 1-192 months, 19 cyanotic CHD and 75 acyanotic CHD) and age-sex matched 54 children (26 girls and 28 boys) with no CHD. In the study group, 37 out of the 94 CHD patients (39.4%) and 16 out of the 54 controls (29.6%) had malnutrition. The difference between the cyanotic and acyanotic patients in respect to malnutrition was significant (57.9% and 34.6%, p<0.05). Serum IGF-1 levels were lower (41.8+/-3.9 microg/L, 106.9+/-17.9 microg/L respectively, p<0.001) and GH levels were higher (6.43+/-0.9 ng/ml, 3.87+/-0.5 respectively, p<0.05) in CHD patient group than the controls. Serum IGF-1 levels were significantly lower in cyanotic CHD patients than the acyanotic patients (17.2+/-3.2 microg/L, 48.7.0+/-4.6 microg/L respectively, p<0.001) and serum IGF-1 levels were both lower in acyanotic and cyanotic CHD patients than the controls (p<0.001 for both). Serum IGF-1 and GH levels were similar between the well-nourished CHD patients and CHD patients with malnutrition (p>0.05). In total study group, the most effective factors on serum IGF-1 levels was presence of CHD (p<0.001), in CHD patients, the presence of cyanosis is the most effective factor on serum IGF-1 level, the presence of malnutrition is the most effective factor on serum IGFBP-3 levels (p<0.01). In the acyanotic, cyanotic, and the entire CHD patient groups, we find no correlations between the serum IGF-1, IGFBP-3 levels and left ventricular systolic function measurements. But serum GH levels were negatively correlated with diastolic left ventricular interseptum diameter, diastolic left ventricular mass and left ventricular end-diastolic volume measurements in CHD patients. In conclusion, we determined that the most important factor on serum IGF-1 levels is cyanosis. Reduced IGF1 levels and decreased left ventricular mass with an elevated GH levels in CHD patients and these findings are prominent in the cases with cyanosis and malnutrition. For this reason we believe that chronic hypoxia plays a significant role in the pathogenesis of malnutrition and also we believe that IGF-1 deficiency seen in CHD patients may be responsible in the etiology of the decrease in left ventricular mass independently from GH.     

Association of TNF-α polymorphisms (−857, −863 and −1031), TNF-α serum level and lipid profile with acne vulgaris

BackgroundAcne is an inflammatory condition principally affected by genetic and dietary factors. Investigation into functional polymorphisms of TNF-α gene and their association with acne vulgaris will be helpful in exploring genetic influence on skin immune mediated inflammatory events. In the present study, we analyzed association of TNF-α gene polymorphisms, its expression levels and lipid profiles in a large cohort of acne patients and controls.MethodsWe used PCR-RFLP to study association of TNF-α polymorphisms at −857C/T, −863C/A and −1031 T/C sites with acne vulgaris. Lipid profiles were measured using enzymatic end-point method. The serum levels of TNF-α and apolipoprotein a were measured using ELISA. NIH, LDlink was used to investigate patterns of linkage disequilibrium across south Asian reference genome (Punjabi from Lahore Pakistan).ResultsWe found that TNF-α −863 polymorphism is strongly associated with acne in overall population as well as in gender and severity based groups of acne patients. Polymorphisms at −863 and −1031 position were in linkage disequilibrium. Importantly, TNF-α serum level was significantly increased in acne patients with severe disease symptoms. Furthermore, levels of total cholesterol (TC) and triglycerides (TG) were significantly increased, whereas high density lipoprotein cholesterol (HDL-C) level was significantly decreased in acne patients. The levels of apolipoprotein a varied widely in studied populations and no significant difference was found in the analyzed groups.ConclusionIn conclusion, we found that TNF-α expression increases in acne patients affected by TNF-α polymorphisms, and that the lipid profile is specifically disrupted in acne patients.