Gene
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Meta Analysis
Association between ADAM33 S2 and ST+4 polymorphisms and susceptibility to asthma: a meta-analysis.
The aim of this study was to determine whether ADAM33 (a disintegrin and metalloproteinase domain 33) polymorphisms confer susceptibility to asthma in different populations. ⋯ This meta-analysis demonstrates that the ADAM33 S2 polymorphism confers susceptibility to asthma in Europeans and the ADAM33 ST+4 polymorphism is associated with asthma in Asians and adults.
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Vascular malformations (VMs) are common congenital and neonatal dysmorphogenesis. VMs mostly occur sporadically with a few exceptions of inheritability. Tie2/angiopoietins-2 (Ang-2) and VEGF/KDR pathways are known to be involved in normal and pathogenic angiogenesis. ⋯ Our results indicated that rs638203 (p=0.029) and rs639225 (p=0.018) in Tie2 gene were associated with VM. A further bioinformatics analysis suggested the rs638203-G and rs639225-G might cause an abnormal splicing of Tie2 gene into to a defective protein. Our results identified two novel Tie2 gene polymorphisms with genetic susceptibility to VMs, although future functional validation of the two polymorphisms is warranted in the future.
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Receptor for advanced glycation end-product (RAGE) gene polymorphism 2245G/A is associated with diabetic retinopathy (DR). However, the mechanism on how it affects the disease development is still unclear. ⋯ The RAGE gene polymorphism 2245G/A is associated with pro-inflammatory, oxidative-glycation markers and circulating sRAGE in DR patients. Patients with 2245GA RAGE genotype could aggravate DR possibly via NF-κB mediated inflammatory pathway.
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Review Meta Analysis
Association of the -1082G/A polymorphism in the interleukin-10 gene with systemic lupus erythematosus: a meta-analysis.
A great many studies have investigated the -1082G/A polymorphism (rs1800896) in the interleukin-10 gene (IL10) with SLE susceptibility, but the results are inconsistent and inconclusive. The aim of this meta-analysis was in order to more precisely estimate the relationship. The databases of Pubmed and Web of Science updated to Oct, 2012 were retrieved. ⋯ Significant association was found by using homozygote contrast model in overall populations and Asian (Overall: OR 1.303, 95%CI.: 1.031-1.648; Asian: OR 3.206, 95%CI.: 1.241-8.284), while no association was found in Caucasian (OR: 1.209; 95%CI.: 0.940-1.556). The results provided evidence for the association between the IL10 -1082G/A polymorphism and the risk of SLE. To confirm these findings, more case-control studies with subtle study design based on adequately sized populations are required.