耐力训练对动态心功能的影响与ACE基因多态性的关联研究

测定87名北方汉族新兵,经18周的5km跑耐力训练前后动态左心室结构与功能指标,并应用PCR-AFLP方法检测其ACE基因I/D多态,观察两者之间是否存在关联。结果显示:耐力训练后,左心室结构和功能发生了适应性改变,表现在100W负荷下,左室内径、每搏量、左室后壁、室间隔厚度的增加,反映了心脏机能的增强;相同负荷下功能指标,如射血分数、心输出量呈机能节省化下降,反映了心力储备良好;但是ACE基因型组间比较左心室结构和功能改变的差异无显著性(P>0.05)。在中国北方汉族青年中,未发现ACE基因I/D多态性与左室动态心功能指标的训练敏感性之间的关联。     

ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes

Aim: Recent meta-analyses of the literature confirmed the association between the RR+RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athletic status in Europeans but not in Asians and Africans, while the association between the R577X genotype and elite endurance athlete status is less convincing. The aim of the present study was to investigate the association between the ACTN3 R577X genotype and elite athlete status in a large Asian (Japanese) cohort of track and field athletes. Methods: One-thousand fifty-seven Japanese track and field athletes (627 sprint/power athletes and 430 endurance athletes) and 810 Japanese controls were genotyped for the ACTN3 R577X polymorphism (rs1815739) by using the TaqMan® SNP Genotyping Assay. Results: Elite sprint/power athletes had a higher frequency of the RR+RX genotype than the controls (OR: 1.59, 95% CI: 1.16–2.18; P?=?.003). A significant linear correlation was found between the RR?+?RX genotype and athlete status (i.e. regional?P?=?.001 for trend) and long-distance runners (regional: 65%, national: 72%, international: 82%; P?=?.030 for trend). Conclusions: The data obtained for this large Asian (Japanese) cohort of track and field athletes served to confirm the association between the RR?+?RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athlete status and also the association between the ACTN3 RR?+?RX genotype and long-distance running athletic status.     

维生素D受体基因多态性与运动能力研究进展

维生素D受体(VDR)存在于骨、肾、肌肉等组织内,主要作用是介导维生素D发挥生物学作用。众多的研究表明,VDR基因多态性与运动能力相关指标如肌肉力量、身体组成、体脂含量、骨密度、骨容量等紧密相关。对近些年来VDR基因多态性研究的综述,为将来的VDR基因多态性分型研究工作打好基础。     

Analysis of genetic diversity in banana cultivars (Musa cvs.) from the South of Oman using AFLP markers and classification by phylogenetic, hierarchical clustering and principal component analyses

Banana is an important crop grown in Oman and there is a dearth of information on its genetic diversity to assist in crop breeding and improvement programs.This study employed amplified fragment length polymorphism(AFLP) to investigate the genetic variation in local banana cultivars from the southern region of Oman.Using 12 primer combinations,a total of 1094 bands were scored,of which 1012 were polymorphic.Eighty-two unique markers were identified,which revealed the distinct separation of the seven cultiva...     

Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population

Introduction:

The enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) catalyzes the conversion of the hormonally inactive cortisone to active cortisol, thus facilitating glucocorticoid receptor activation in target tissues. Increased expression of 11β-HSD1 in adipose tissue has been associated with obesity and insulin resistance. In this study, we investigated the association of two 11β-HSD1 gene (HSD11B1) polymorphisms with the metabolic syndrome (MetS) and its characteristics in the Bosnian population.

Materials and methods:

The study included 86 participants: 43 patients diagnosed with MetS and 43 healthy controls. Subjects were genotyped for two HSD11B1 gene polymorphisms: rs846910: G>A and rs45487298: insA, by the high resolution melting curve analysis. Genotype distribution and an influence of genotypes on clinical and biochemical parameters were assessed.

Results:

There was no significant difference in the mutated allele frequencies for the two HSD11B1 gene polymorphisms between MetS patients and controls. In MetS patients, no significant associations between disease-associated traits and rs45487298: insA were found. Regarding rs846910: G>A variant, heterozygous patients (G/A) had significantly lower systolic (P = 0.017) and diastolic blood pressure (P = 0.015), lower HOMA-IR index (P = 0.011) and higher LDL-cholesterol levels (P = 0.049), compared to the wild-type homozygotes. In the control group, rs45487298: insA polymorphism was associated with lower fasting plasma insulin levels (P = 0.041), lower homeostasis model assessment insulin resistance (HOMA-IR) index (P = 0.041) and lower diastolic blood pressure (P = 0.048). Significant differences between rs846910: G>A genotypes in controls were not detected. Haplotype analysis confirmed the association of rs45487298: insA with markers of insulin resistance in the control subjects.

Conclusions:

Our results indicate that a common rs45487298: insA polymorphism in HSD11B1 gene may have a protective effect against insulin resistance.     

从EDN1、NOS2A基因筛选预测HiHiLo训练效果的分子标记

目的:拟从EDN1及NOS2A基因的多态性位点中筛选出与HiHiLo(高住高练低训)训练效果相关的分子标记,为帮助制定个性化的低氧训练方案提供理论参考。方法:采用Association-Study研究方法,测定、分析了72名我国北方地区汉族健康男性青年30天HiHi-Lo训练前后有氧运动能力、心功能变化率与EDN1、NOS2A基因多态性的关联性。HiHiLo训练方案包括每晚10h低氧环境(14.3%～14.8%含氧量)暴露、每周3次30 min75%VO2max强度的低氧运动和日常的体育锻炼。有氧运动能力指标包括递增负荷功率车运动中测定的最大耗氧量、固定负荷血乳酸以及低氧训练中的血氧饱和度,心功能指标包括彩色多普勒测定的安静及三级固定负荷(50 W→100 W→150 W)功率车运动3min后的心脏结构与功能指标。基因多态性选取了EDN1基因外显子SNP/rs5370、rs1800997和3’端rs4714383,NOS2A基因启动子区STR(CCTTT)n和内含子SNP/rs2248814。结果:1)经过30天HiHiLo训练后,EDN1基因SNP/rs1800997的3A/3A基因型人群在安静状态下左心室心肌收缩力提高程度显著优于含4A等位基因的基因型人群,SNP/rs4714383的CC基因型人群运动中左心室泵功能改善程度显著优于含T等位基因的基因型人群;2)NOS2A基因STR(CCTTT)n上2个等位基因n值之和与VO2max提高率显著正相关,SNP/rs2779249的GT基因型人群固定负荷运动中心脏机能节省化水平提高的程度显著大于GG基因型人群。结论:在我国北方汉族男性人群中,EDN1基因SNP/rs1800997、rs4714383和rs2779249的3A/3A、CC和GT基因型携带者HiHiLo训练后心功能提高效果较好;NOS2A基因STR(CCTTT)n基因座上2个等位基因n值均较大的基因型携带者HiHiLo训练后VO2max提高效果较好。     

中国北方汉族男子FECH基因-252A/G多态与耐力训练敏感性的关联研究

目的:探讨中国北方汉族男性亚铁螯合酶(FECH)基因-252A/G多态性与耐力训练敏感性的关联,寻找与有氧耐力训练效果的分子标记。方法:选取102名中国北方汉族男性健康受试者,以95%～105%个体无氧阈强度进行5 000米跑训练,每周3次,共18周,训练前后测定VO2max、RE等指标。使用PCR-RFLP和测序方法解析该基因多态性的分布特征,并进行该多态与上述生理指标进行关联性分析。结果:1)耐力训练前,AA基因型跑节省化时的心率(RE/HR)、跑节省化时的最大摄氧量(RE/rVO2)起始值均显著性低于GG基因型(P<0.01);2)有氧耐力训练后,AA基因型通气阈时的摄氧量(△VT/VO2)增加的幅度显著性高于GG基因型(P<0.05);AA基因型在跑节省化时的心率(△RE/HR)下降的幅度显著性高于GG基因型(P<0.05)。结论:在FECH基因-252A/G多态性中,AA基因型耐力训练具有较高的训练敏感性,可作为预测有氧耐力训练敏感性的分子标记。     

Association of Estrogen Receptor-α Gene &; Metallothionein-1 Gene Polymorphisms in Type 2 Diabetic Women of Andhra Pradesh

Type 2 diabetes mellitus (DM) is a multifactorial disease where both genetic and environmental factors contribute to its pathogenesis. Estrogen plays an important role in type 2 DM pathogenesis. A number of polymorphisms have been reported in the estrogen receptor (ESR1), including the XbaI and PvuII restriction enzyme polymorphisms of ESR1,which may be involved in disease pathogenesis. Metallothioneins (MT) act as potent antioxidants against various oxidative damages. Very few studies have indicated the association between Estrogen Receptor-α, MT1 gene polymorphisms with type2 DM. A total of 100 type 2 diabetic women and 100 age, sex matched controls were recruited. Using the PCR based RFLP method, the PvuII and XbaI polymorphisms of ESR1 and in MT1A (rs8052394 and rs11076161) gene polymorphisms were analysed. The genotype distribution and frequency of mutated allele showed no significant differences between diabetic and non-diabetic groups in PvuII (χ2 = 2.443; P = 0.1181) or XbaI (χ2 = 1.789; P = 0.1812) and rs8052394 (χ2 = 1.154; P = 0.2840) or rs11076161 (χ2 = 0.4141; P = 0.5199), polymorphisms. This is the first Indian study to conclude that ESR1 and MT1 gene polymorphisms are not associated with increased susceptibility to type 2 diabetes in Indian women.     

Effect of enalapril on plasma homocysteine levels in patients with essential hypertension

Objective:To investigate the effect of enalapril on plasma homocysteine(Hcy) levels and the association of methylenetetrahydrofolate reductase(MTHFR) C677T polymorphism with the changes of Hcy levels in response to enalapril among patients with essential hypertension.Methods:A total of 130 patients with mild-to-moderate essential hypertension were enrolled and enalapril was orally administered at a dose of 10 mg/d for eight weeks.Plasma Hcy levels were measured by denaturing high-performance liquid chromatography(DHPLC) at baseline and after eight weeks of treatment.Genotyping of MTHFR C677T polymorphism was performed by TaqMan probe technique.Results:Compared with baseline,plasma Hcy levels did not change significantly after eight weeks(P=0.81).Stratified by baseline Hcy levels,a significant increase in plasma Hcy levels(P=0.02) among those with Hcy 10 μmol/L was observed,in contrast to no significant changes in plasma Hcy levels(P=0.54) among those with Hcy ≥10 μmol/L.No significant association was observed between MTHFR C677T polymorphism and changes in Hcy levels in response to enalapril.Conclusions:Enalapril may cause an increase in plasma Hcy levels among the hypertensives with low baseline Hcy levels.There was no significant association between MTHFR C677T genotypes and changes in Hcy levels in response to enalapril among subjects with essential hypertension.