ALK7 Gene Polymorphism is Associated with Metabolic Syndrome Risk and Cardiovascular Remodeling

Background

Activin receptor-like kinase 7 (ALK7) is a type I receptor for the TGF-β superfamily and has recently been demonstrated to play an important role in the maintenance of metabolic homeostasis.

Objective

To investigate the association of the ALK7 gene polymorphism with metabolic syndrome (MetS) and cardiovascular remodeling in MetS patients.

Methods

The single nucleotide polymorphism rs13010956 in the ALK7 gene was genotyped in 351 Chinese subjects undergoing carotid and cardiac ultrasonography. The associations of the ALK7 gene polymorphism with the MetS phenotype, MetS parameters, and cardiovascular ultrasonic features were analyzed.

Results

The rs13010956 polymorphism in the ALK7 gene was found to be significantly associated with the MetS phenotype in females (p < 0.05) and was also significantly associated with blood pressure in the total (p < 0.05) and female populations (p < 0.01). Further analysis revealed that rs13010956 was associated with mean intima-media thickness of the carotid arteries in females (p < 0.05). After control for body mass index, blood pressure, fasting blood glucose, and triglycerides, rs13010956 was also found to be significantly associated with left ventricular mass index in the total (p < 0.05) and female populations (p < 0.05).

Conclusion

Our findings suggested that the ALK7 gene polymorphism rs13010956 was significantly associated with MetS risk in females and may be involved in cardiovascular remodeling in MetS patients.     

Association of Five Single Nucleotide Polymorphism loci with Asthma in Children of Chinese Han Nationality

Background. Increasing research is available verifying that asthma is a familial and hereditary disorder of a complex of factors and genes. Objective. To investigate the single and combined associations of five single nucleotide polymorphism loci in three genes with the development of asthma in children of Chinese Han Nationality. Methods. A total of 192 children with asthma and an equal number of control subjects were recruited in this study. Asthma was diagnosed in accordance with American Thoracic Society criteria. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes of the single nucleotide polymorphism loci. Results. No statistic differences (p > 0.05) were found between experimental and control group in genotype distribution among three loci (NOS1 C5266T, TGF-beta1 L10P, and TGF-beta1 R25P). However, a significant diversity was observed among IL4-RA Q551R (p = 0.004) and TGF-beta1 C-509T (p = 0.000). Furthermore, the frequency of IL4-RA Q551R A/G and TGF-beta1 C-509T C/T in the asthma group were significantly higher than those in the control group (OR = 1.91, P = 0.002; OR = 2.90, P = 0.000, respectively). The carriers of both IL4-RA Q551R A/G and TGF-beta1 C-509T C/T did not have a more significant risk of having asthma than those who covered either. Conclusion. The three loci (NOS1 C5266T, TGF-beta1 L10P and TGF-beta1 R25P) have little contribution to the development of childhood asthma in Chinese Han Nationality. IL4-RA Q551R and TGF-beta1 C-509T are single nucleotide polymorphism loci with significant association to childhood asthma, but they do not have synergistic effects.     

全国血吸虫病疫情资料回顾性调查Ⅲ传播控制和传播阻断后疫情回升地区疫情变化分析

目的分析我国血吸虫病流行区达到传播控制（传控）和传播阻断（传阻）后疫情回升地区的疫情变化情况,为修订血吸虫病控制和消灭标准、巩固达标地区防治成果提供参考。方法选择全国7个血吸虫病流行省中的12个疫情回升县（市、区）,采用回顾性调查法,收集各县达传控前10年和以后各年（至2008年或2009）的疫情数据及相关资料,分析其疫情变化情况及达标后疫情回升因素。结果达传控后疫情回升县的疫情巩固时间平均为5±3年。山丘型和湖沼型流行区钉螺面积分别在达标后第7年和第12年回升至历史累计有螺面积的10%以上,水网型流行区钉螺面积相对稳定在较低水平;感染性钉螺密度的回升时间与活螺密度的回升高峰基本一致;湖沼型流行区在达传控后2年居民感染率即回升至〉10%。达传阻后疫情回升县的疫情巩固时间平均为7±4年。达传阻后湖沼型、水网型和山丘型流行区的人群感染率均稳定在较低水平,但钉螺面积在达传阻后的3～6年先后回升至历史累计有螺面积的2%以上,而活螺密度和感染性钉螺密度则在钉螺面积回升的当年或随后2~3年相继出现回升。结论受生物、自然、社会等诸多因素的影响,传控和传阻达标地区疫情回升主要表现为螺情回升。建议修订我国血吸虫病控制和消灭标准时,应综合考虑不同类型流行区的螺情变化规律、钉螺面积或感染性钉螺密度等因素对疫情的影响。传控和传阻地区应建立敏感而有效的监测预警体系,加强达标后的疫情监测和巩固工作。     

PTEN在胃癌中的研究进展

第10号染色体同源缺失性磷酸酶-张力蛋白基因(phosphatase and tensin homolog deleted on chromosome ten,PTEN)是继p533之后发现的另一重要的抑癌基因,其编码的蛋白质可调控多种细胞信号转导通路或功能分子,构成一个复杂的网络系统,在调控细胞增殖与凋亡、迁移与黏附...     

p16INK4A and p15INK4B gene deletions in primary leukemias

The 9p21 locus has been deleted at a high frequency in a wide variety of tumors. Recently, two genes, p16INK4A and p15INK4B (also called MTS1 and MTS2), have been localized in close proximity at the 9p21 locus, encoding cyclin-dependent kinases 4/6 inhibitors of relative molecular mass 16 kD and 15 kD, respectively and also found to be deleted at a high frequency in tumor cell lines. We analyzed p16INK4A and p15INK4B genes in 178 cases of primary leukemias including 81 cases of chronic lymphocytic leukemia (CLL), seven of hairy cell leukemia (HCL), seven of chronic myelogenous leukemia (CML), 43 of acute myelogenous leukemia (AML), 27 of acute lymphoblastic leukemia (ALL), and 13 of myelodysplastic syndrome (MDS) by Southern blot analyses. The ALL cases showed a relatively high frequency of homozygous deletions (22%, 6 of 27) at the p16INK4A gene locus. Interestingly, of the six cases with p16INK4A homozygous deletions, only three showed homozygous deletions at the p15INK4B gene. In 81 CLL patients, we detected one homozygous and five heterozygous deletions at both the p16INK4A and p15INK4B genes and two heterozygous deletions at the p16INK4A gene alone. Deletion of these two genes in AML cases is relatively low (9%). We did not detect deletions in any of the MDS, HCL, and CML cases examined. Sequence analyses of p16INK4A gene of six CLL cases with heterozygous deletion at this locus showed a 27-bp deletion at the splice acceptor site of intron 1 in one case and changes in the coding sequence in three other cases. The data presented in this report showed that (1) p16INK4A and p15INK4B genes are preferentially deleted homozygously in ALL and heterozygously in CLL cases with frequent mutation in the second allele, and (2) p16INK4A gene appears to be more frequently deleted than p15INK4B gene.     

中国大陆地区炎症性肠病肠外表现的汇总分析

目的:总结我国大陆地区炎症性肠病(IBD)肠外表现,为临床医师快速准确诊断本病提供线索.方法:对我国近30年来报道的IBD文献进行计算机CBM与文献追溯检索,对符合标准的肠外病变部位数据进行摘录、登记、统计分析.结果:1979-01/2008-01符合标准的文献169篇.报道UC患者14963例,CD患者3659例,大约15%UC患者与31%CD患者存在多种多样的肠外表现.结论:IBD除累及消化系外,常同时累及多个系统,易导致误诊,给临床诊断带来困难.     

Protection of Regenerating Liver After Partial Hepatectomy from Carbon Tetrachloride Hepatotoxicity in Rats: Roles of Mitochondrial Uncoupling Protein 2 and ATP Stores

Uncoupling protein 2 (UCP₂), an inner mitochondrial membrane protein, can limit the generation of reactive oxygen species (ROS) and protect cells from injuries mediated by oxidative stress. We investigated the effect of upregulation of UCP₂ in the regenerating liver 96 h after 68% partial hepatectomy (PH) on the self-protection of regenerating liver against carbon tetrachloride (CCl₄) poisoning. Hepatotoxicity was induced in vivo by administering CCl₄ to rats that had undergone PH. After CCl₄ poisoning, the regenerating liver appeared to have less histological damage and lower serum alanine aminotransferase (ALT) levels. Lower malondialdehyde production and higher glutathione contents were also observed in the regenerating liver compared with the sham-operated liver after CCl₄ poisoning. UCP₂ expression was markedly elevated in the regenerating liver, and further increased after CCl₄ intoxication. Mitochondrial membrane potential and adenosine triphosphate stores maintained higher levels in the regenerating liver than in sham-operated liver after CCl₄ intoxication. The results showed that the regenerating liver exhibited a potent ability to resist CCl₄ intoxication, and the autoprotection of regenerating liver might result from reduction of ROS by UCP₂ and maintenance of higher ATP stores.