Single nucleotide polymorphisms
Congenital heart disease (CHD), defined as clinically structural heart defects present before and at birth, is the leading cause of serious infant morbidity and mortality worldwide. The incidence of CHD at birth was 10-12 per 1000 live births in 2013 (Hoffman, 2013). Similarly, in China the overall incidence based on epidemiological studies was 8 per 1000 live births in 2011, an approximate increase of 6.7 times compared with 1996 (Yu et al., 2014).
It has been proven that vascular endothelial growth factor (VEGF) is involved in airway restoration and the development of asthma. We sought to examine the relevance of VEGF gene polymorphisms to asthma in the Chinese Han population. We extracted the whole genomic DNA from the peripheral blood of 471 participants, including 226 patients with asthma and 245 healthy controls. Seven single nucleotide polymorphisms (SNPs) of the VEGF gene were genotyped using the MassARRAY system. The data were then analyzed using HaploView 4.0 and SPSS 20.0 softwares.
Base excision repair (BER) plays an important role in maintaining genome integrity and anti-cancer drug resistance. Single nucleotide polymorphisms (SNPs) in BER genes were detected in 500 lung cancer patients and 500 cancer-free controls. A logistic regression model was applied to analyze the relationship between lung cancer susceptibility and BER SNPs coupled with a wide range of epidemiological factors in a Chinese population.
Brain-derived neurotrophic factor (BDNF) promotes synaptic remodeling and modulates the function of other neurotransmitters. Allergic inflammation triggers neuronal dysfunction and structural changes in the airways. Genetic polymorphisms in functional regions of the BDNF gene have a plausible role in modulating the risk of child asthma (CA). This study examined the potential association between CA and three single nucleotide polymorphisms (SNPs) in BDNF (rs2030323, rs6265, and rs16917204 in the promoter, exon 4, and 3'-untranslated regions, respectively).
Osteomyelitis is a progressive bone infection disease caused by destructive immunological inflammatory reactions following new bone formation. Anti-inflammatory cytokines are a series of immunoregulatory molecules that control the pro-inflammatory cytokine response. In this study, we investigated 9 single nucleotide polymorphisms in 5 different cytokine/cytokine receptor genes in hematogenous osteomyelitis (HO) patients, and compared their outcomes with normal healthy individuals.
In the present study, we examined whether hypoxia-inducible factor-1α (HIF-1α) polymorphisms are associated with the susceptibility to chronic obstructive pulmonary disease (COPD). One hundred and twenty patients with COPD and 112 healthy controls were recruited from the Han population in Southern China. Polymerase chain reaction-restriction fragment length polymorphism was used to assess the C1772T and G1790A polymorphisms in the HIF-1α gene, and differences in genotypes between the 2 groups were compared.
Recent studies revealed common genetic risks for both viral bronchiolitis and asthma. Genome-wide association studies revealed that rs7216389 in the ORMDL3 gene is associated with childhood asthma. We conducted a case-control study examining the associations between ORMDL3 polymorphisms (rs7216389, rs12603332, and rs11650680) and bronchiolitis susceptibility/viral findings among 247 infant bronchiolitis cases and 190 healthy controls.
Nuclear factor-κB (NF-κB), a transcription factor that is activated by various stimuli, is associated with the pathogenesis of several cancers. One functional polymorphism, -94 insertion/deletion ATTG (rs28362491), in the human NFKB1 gene (one member of the NF-κB gene family) is associated with increased risk of various cancers. However, only one study has reported that rs28362491 is significantly associated with ovarian cancer.
To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms (rs1530351, rs4791230, rs2869577, rs8077696, rs8070231, rs2292592, rs9916525, rs1122079, and rs4790953) in the G-protein signaling 9 gene. The participants included 395 schizophrenia subjects and 400 healthy controls. The selected single nucleotide polymorphisms were genotyped using mass spectrometry techniques.