Haplotype association analysis of AGT variants with hypertension-related traits: the HyperGEN study

OBJECTIVE: Function of the renin-angiotensin system is important to human hypertension, but its genetic etiology remains elusive. We set out to examine a hypothesis that multiple genetic variants in the system act together in blood pressure regulation, via intermediate phenotypes such as blood pressure reactivity. METHODS: A sample of 531 hypertensive cases and 417 controls was selected from the HyperGEN study. Hypertension-related traits including blood pressure responses to challenges to math test, handgrip and postural change (mathBP, gripBP, and postBP), and body mass index (BMI) were analyzed for association with 10 single nucleotide polymorphisms (SNPs) in the angiotensinogen (AGT) gene. Single-marker and haplotype analyses were performed to examine the effects of both individual and multiple variants. Multiple-trait profiling was used to assess interaction of latent intermediate factors with susceptible haplotypes. RESULTS: In Blacks, two SNPs in exon 5 and 3'UTR showed significant association with gripBP, and two promoter SNPs were strongly associated with postBP. In Whites, only borderline association was found for 2 promoter SNPs with mathBP. Haplotype analyses in Blacks confirmed association with gripBP, and detected significant association of a haplotype to BMI (p=0.029). With the interactions modeled, haplotype associations found in Blacks remain significant, while significant associations to BMI (p=0.009) and gripSBP emerged in Whites. CONCLUSION: Genetic variants in regulatory regions of AGT showed strong association with blood pressure reactivity. Interaction of promoter and genic SNPs in AGT revealed collective action of multiple variants on blood pressure reactivity and BMI both in Blacks and in Whites, possibly following different pathways.     

The significance of not finding a gene

As more investigators conduct extensive whole-genome linkage scans for complex traits, interest is growing in meta-analysis as a way of integrating the weak or conflicting evidence from multiple studies. However, there is a bias in the most commonly used meta-analysis linkage technique (i.e., Fisher's [1925] method of combining of P values) when it is applied to many nonparametric (i.e., model free) linkage results. The bias arises in those methods (e.g., variance components, affected sib pair, extremely discordant sib pairs, etc.) that truncate all "negative evidence against linkage" into the single value of LOD = 0. If incorrectly handled, this bias can artificially inflate or deflate the combined meta-analysis linkage results for any given locus. This is an especially troublesome problem in the context of a genome scan, since LOD = 0 is expected to occur over half the unlinked genome. The bias can be overcome (nearly) completely by simply interpreting LOD = 0 as a P value of 1divided by 2ln(2) is approximately equal to .72 in Fisher's formula.     

Inheritance of the Waist‐to‐Hip Ratio in the National Heart,Lung, and Blood Institute Family Heart Study

Objective: Considering that waist‐to‐hip ratio (WHR) is a simple anthropometric measure of obesity and is a better predictor of coronary heart disease than body mass index (BMI), the genetic underpinnings of WHR are of interest. The inheritance pattern of WHR, before and after adjustment for BMI (WHR‐BMI), was investigated in 2713 individuals from 1038 nuclear families in the National Heart, Lung, and Blood Institute Family Heart Study (NHLBI‐FHS). Research Methods and Procedures: Waist and hip measurements were taken twice, and the means of the measurements were used to calculate the WHR. Adjustments for age were carried out separately by sex, using stepwise multiple regression procedures for WHR and WHR‐BMI phenotypes. Segregation analysis was applied using the unified model as implemented in the computer program POINTER. Results: For age‐adjusted WHR, the segregation results suggested an additive major gene that accounts for 35% of the phenotypic variance, and approximately 30% of the sample are homozygous for the “high” genotype. The results for age‐ and BMI‐adjusted WHR were also compatible with a major gene; however, the multifactorial model provided the most parsimonious fit to the data. Discussion: Although the genetic mechanisms for several obesity traits have been studied, tests of Mendelian segregation on this simple anthropometric measure (WHR) have not been reported previously. This study provides evidence for the presence of a major gene for age‐adjusted WHR, suggesting that it is an appropriate trait for further genetic analysis, especially because it has strong predictive value and probably relates biologically to cardiovascular risk.     

氧驱动雾化吸入治疗婴幼儿毛细支气管炎的疗效观察

目的探讨硫酸特布他林、布地奈德联合雾化吸入对婴幼儿毛细支气管炎的疗效。方法将142例患者随机分为试验组（72例）与对照组（70例）。对照组进行抗病毒吸氧、止咳化痰等常规治疗;试验组在常规治疗的基础上,加用雾化吸入硫酸特布他林、布地奈德雾化液,比较两组疗效。结果试验组的疗效明显优于对照组（P〈0.01）。结论硫酸特布他林雾化液、布地奈德混悬液吸入能较快地改善呼吸功能,有效改善毛细支气管炎患儿症状,值得在基层医院推广。     

绝经后妇女宫内节育器两种取出方法的效果观察

目的探讨能绝经后妇女宫内节育器(IUD)取出的安全有效方法。方法对在本院门诊要求取出IUD的绝经后妇女随机分为两组:观察组80例,提前1周后给予尼尔雌醇2 mg顿服,取环术前2 h阴道后穹隆放置米索前列醇400μg;对照组102例,仅口头安慰后施术。结果观察组用药后宫口变松,宫颈软化,取环操作顺利,且术中疼痛明显减轻,手术时间和术中出血明显减少。结论术前应用联合应用尼尔雌醇、米索前列醇,可改善取环操作条件,提高IUD取出成功率,并降低患者的痛苦,减少手术时间和术中出血。     

血糖检测仪在社区医疗中的应用分析

目的探讨社区医疗中血糖检测仪的应用。方法分析2010年1月～2010年10月在社区使用血糖仪的2型糖尿病患者30例,定期检测糖尿病患者的血糖控制情况,并进行健康教育。结果与同期未进行定期测量血糖的30例糖尿病患者比较,血糖控制情况差异有统计学意义。结论社区血糖检测仪应用方便,对实时检测糖尿病患者的血糖有较好的诊断价值,值得在社区广泛使用。     

腹腔镜手术联合药物治疗卵巢子宫内膜异位症疗效分析

目的探讨腹腔镜手术联合孕三烯酮治疗卵巢子宫内膜异位症的远期疗效及安全性。方法回顾性分析我院2008年8月-2009年12月收治的经腹腔镜手术的卵巢子宫内膜异位症患者78例,将术后给予孕三烯酮治疗的39例设为治疗组,单纯开腹手术治疗组39例设为对照组。所有患者随访1年以上,评价两组临床治疗效果。结果 LO组手术情况39例EM患者均成功完成手术。无一例转开腹手术。其手术时间、出血量、平均住院时间等与AO组相比差异有显著性（P〈0.05）,复发率分别为17.95%和20.51%,两者相比无统计学意义（P〉0.05）。结论腹腔镜术后联合孕三烯酮治疗卵巢子宫内膜异位症疗效确切,能降低复发率,提高受孕,且副反应小。     

植物角质层内外蜡质的差异及其与抗逆性的关系

植物角质层是覆盖在植物地上部分的叶、花和非木质茎等器官表面的保护层,包括角质和蜡质。其中蜡质根据分布位置不同又分为表皮蜡质和内部蜡质。大量研究表明,表皮蜡质含量和结构在植物生长发育和抗逆性申发挥着重要作用。近年来有研究发现构成蜡质的成分在内外蜡质层中的分布存在差异,角质层蜡质成分影响植物抗逆性。本文针对角质层结构和内外蜡质差异性以及角质层结构和组成与植物抗逆性之间的关系进行了综述。     

水鬼蕉花药发育中多糖和脂滴组织化学研究

水鬼蕉（Hymenocallis littoralis）花药发育中,脂滴的积累和分布具有明显的特点。在花药中部的造孢细胞中积累了很多脂滴。在形成胼胝质壁的小孢子母细胞中仍有大量脂滴的分布;与此同时,在花药壁绒毡层细胞中的脂滴也明显增加,而在其他药壁细胞中出现了少量淀粉粒。在四分体时期,四分体小孢子形态不规则,依然含有大量脂滴。在小孢子早期,形态不规则的小孢子开始形成花粉外壁,细胞质中的脂滴明显减少;绒毡层细胞外形变得不规则,内部仍含较多脂滴。在小孢子晚期,小孢子形成许多液泡,小孢子变为圆形,在花粉外壁内侧出现红色多糖成分;此时,绒毡层细胞降解,在退化细胞残迹中仍有较多脂滴。在二胞花粉早期,花粉粒中的液泡逐渐消失,脂滴数量又明显增加;而绒毡层细胞残迹变为很大的脂滴。水鬼蕉成熟花粉为二胞型,其中积累了大量的脂滴作为花粉储存物。