Meta-analyses have revealed many positive associations between gene variants and susceptibility to chronic obstructive pulmonary disease (COPD). However, some of those positive results may be false positives. Therefore, we investigated the genetic polymorphisms associated with COPD risk and determined their diagnostic value.
Numerous studies have investigated the potential relationship between the human leukocyte antigen (HLA)-G 14-bp insertion/deletion (INS/DEL) polymorphisms and autoimmune disease (AID). However, published results are inconclusive. Our aim was to determine whether the 14-bp INS/DEL polymorphism in the HLA-G gene contributes to the risk of AID. A systemic literature search of the PubMed and EMBASE databases was conducted to identify eligible studies investigating the association of the HLA-G 14-bp INS/DEL polymorphism with AID.
N-acetyltransferase 2 (NAT2) is an essential phase II enzyme in the metabolism of aromatic and heterocyclic amines and of hydrazines. NAT2 activity can be divided into three phenotypes: rapid, intermediate, and slow. Studies identifying an association between NAT2 polymorphism and the risk of pancreatic cancer have shown conflicting results.
Ulcerative colitis (UC) is an immune-related disease with genetic predisposition. The aim of this study was to investigate the association of three polymorphisms in the receptor for advanced glycation end-products (RAGE) gene with UC risk in a Chinese population. This case-control study involved 72 UC patients and 479 age- and gender-matched healthy controls. Genotyping was performed using the polymerase chain reaction-ligase detection reaction method. Data were analyzed using the Haplo.stats program.
Vascular inflammation has been shown to be involved in the pathogenesis of intracranial aneurysms (IA). MiRNAs are key molecules that participate in the regulation of many important biological processes including inflammation. Studies on the hsa-miR-146a rs2910164 polymorphism and its association with different inflammatory related diseases have engendered inconsistent results, and until now, there have been no reports on the association between this polymorphism and the susceptibility to IA.
The susceptibility to glioma is not well understood. It has been suggested that the X-ray cross complementing group 3 (XRCC3) gene influences the capacity to repair DNA damage, leading to increased glioma susceptibility. In this study, we evaluated the relationship between XRCC3 mutations and glioma risk. Genotypes were assessed in 389 Chinese glioma patients and 358 healthy controls. XRCC3 Thr241Met (rs861539) and 2 additional polymorphisms, rs3212112 (c.774+19T>G) and rs1799796 (c.562-14A>G), were directly sequenced.