The objective of this study was to explore the relationship between CYP4F2 gene polymorphism and ischemic stroke (IS) in the Han Chinese population. We performed a case-control study to genotype four single nucleotide polymorphisms (SNPs) (rs2108622, rs3093100, rs3093105, rs3093135) in the CYF4F2 gene. The genotype and haplotype distributions were compared between the case and control groups. We found that the GG genotype of rs2108622 in the CYP4F2 gene was associated with risk of IS (P = 0.023).
Single nucleotide polymorphism
We investigated the association between 12 single nucleotide polymorphisms (SNPs) in 11 genes involved in folate metabolic and preterm birth. A subset of SNPs selected from 11 genes/loci involved in the folic acid metabolism pathway were subjected to SNaPshot analysis in a case-control study.
This study was designed to detect the sequence variation of the chicken heat shock protein 70 (HSP70) gene. A total of 102 individuals from 8 native Chinese breeds together with Dwarf White Chicken and Red Junglefowl were used to detect sequence variations. The coding regions of the chicken HSP70 gene from 102 individuals were cloned and sequenced. Thirty-six variations were identified, which included 34 single nucleotide polymorphisms and 2 indel mutations. Fifty-seven haplotypes were observed, of which, 43 were breed-specific and 14 were shared.
Parentage analysis and individual identification are recent, promising methods that have been applied to evolutionary and ecological studies, as well as conservation management. Parental exclusion relying on polymorphic microsatellites has been used worldwide in parentage determination, while the low mutation rate and genotyping error rate of single nucleotide polymorphisms (SNPs) make them another important marker for pedigree tracing. Here, we compared the effectiveness of microsatellites and SNP markers in European pigs.
In this study, we investigated the relationship between serum glutamic acid decarboxylase (GAD) autoantibody (Ab) levels and single nucleotide polymorphisms (SNPs) of the glutamic acid decarboxylase 2 (GAD2) 5'-untranslated region and the susceptibility to type 2 diabetes in the Han population. The distributions of patients with SNPs in the GAD2 5'-untranslated region (rs2236418, rs185649317, and rs8190590) and type 2 diabetes and that of the healthy group were genotyped and analyzed using Sequenom MassArray SNP genotyping. GAD-Ab levels were also detected.
The IL-4R Q576R polymorphism has been reported to increase susceptibility to asthma, but the results are controversial. Thus, we performed a meta-analysis to evaluate the association of the IL-4R Q576R polymorphism and asthma risk in the Chinese Han population. A total of sixteen eligible case-control studies that evaluated the relationship between the IL-4R Q576R polymorphism and asthma in the Chinese Han population were obtained by comprehensive literature search incorporating electronic databases, and included 2077 asthma cases and 1589 controls.
Mismatch repair (MMR) genes, as well as the nucleotide excision repair genes, play an important role in removing cisplatin-DNA adducts, and the mutation of MMR genes in tumors can lead to a decreased response to platinum-based therapies. We examined MutS homolog 3 (MSH3), a mismatch repair gene, and whether polymorphisms of MSH3 were associated with response and survival in advanced non-small cell lung cancer (NCSLC) patients who were treated with platinum-based chemotherapy.
Cancer is a major public health problem worldwide that involves complex processes and factors. For instance, methylation is important in tumorigenesis. DNA (cytosine-5)-methyltransferase 3A (DNMT3A) is the main de novo methyltransferase implicated in this process. In DNMT3A, the -448A>G polymorphism is associated with cancer; however, the results of various studies have been conflicting. To clarify the role of DNMT3A polymorphisms in cancer, we conducted a meta-analysis of 2014 cases and 3089 control subjects.
Body measurement and meat quality traits play important roles in the evaluation of productivity and economy in cattle, which are influenced by genes and environmental factors. PRKAG2, which encodes the γ2 regulatory subunit of AMPK, is associated with key metabolic pathways in muscle. We detected bovine PRKAG2 gene polymorphisms and analyzed their associations with body measurement and meat quality traits of cattle. DNA samples were taken from 578 Qinchuan cattle aged 18-24 months.
We investigated the association between polymorphisms in the adiponectin gene (APM-1) and atherosclerotic cerebral infarction (ACI) in a Chinese Han population of Hainan Province. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to analyze the distribution of APM-1 +45T/G and +276G/T genotypes and their alleles in 120 ACI patients and 120 healthy controls. No statistical correlation was found in the frequency and distribution of the genotype 45T/G between the ACI group and the control group.