CTLA-4 (+49A/G) Polymorphism and Type-1 Diabetes in Turkish Children.
J Clin Res Pediatr Endocrinol. 2013 Jun 31;
Authors: Celmeli F, Türkkahraman D, Ozel D, Akçurin S, Yegin O
Objective: To evaluate the contribution of cytotoxic T-lymphocyte antigen-4 (CTLA-4) +49A/G polymorphism to the susceptibility to type-1 diabetes (T1D) in Turkish children. Methods: A case-control study was designed to include 91 Turkish children with T1D and 99 healthy controls. CTLA-4 (+49A/G) gene polymorphism typing was done by PCR amplification followed by restriction fragment length polymorphism (RFLP) method. Results: The genotype and allele frequencies of the CTLA4 (+49A/G) polymorphism in patients with T1D were not different from those in the controls (p>0.05). The allele frequency of G was 36.2% in patients with T1D, and 31.8% in controls (p>0.05). Additionally, this polymorphism was not associated with the clinical and laboratory characteristics of the patients with T1D (p>0.05). Conclusion: Our case-control study suggests that the CTLA-4 (+49A/G) gene polymorphism is not associated with T1D in the Turkish population.
PMID: 23367498 [PubMed - as supplied by publisher]
An approach toward SNP detection by modulating the fluorescence of DNA-templated silver nanoclusters.
Biosens Bioelectron. 2013 Jan 4;43C:419-424
Authors: Park J, Lee J, Ban C, Kim WJ
A rapid, homogeneous, and in-situ labelable format designed to detect single nucleotide polymorphism (SNP) is presented. Fluorescent silver nanoclusters produced following hydride-mediated reduction of Ag(+) bound to a partial double-stranded oligodeoxynucleotide were employed as probes for SNPs. The sensing mechanism is based on the fluorescence enhancement of silver nanoclusters through an irreversible cluster transfer upon hybridization. The key element of our design is modulating the "turn on" mechanism by introducing a competitor that can be displaced in response to a target DNA. In a controlled model system, the fluorescence intensity of silver nanoclusters is approximately 3-fold enhanced upon hybridization with a perfectly matched target DNA, and single-base mismatch detection is achieved within 5min, regardless of the position of mismatches. Human aldehyde dehydrogenase 2 (ALDH2), which is responsible for the oxidation of aldehydes to carboxylic acids, is then utilized as a target for SNP. Upon addition of a perfectly matched sequence, dramatically enhanced fluorescence intensity is observed (ca. 48-fold), and prompt SNP genotyping is accomplished.
PMID: 23357006 [PubMed - as supplied by publisher]
Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population.
Chin J Cancer Res. 2012 Mar;24(1):29-35
Authors: Li FX, Yang XX, Hu NY, Du HY, Ma Q, Li M
OBJECTIVE: Genome-wide association studies (GWAS) have identified 11 loci that influence the risk of developing colorectal cancer (CRC). Given that these studies were conducted in European Caucasian populations, it is not clear whether the results are relevant for populations with different ethnicities. The aim of this study was to examine these associations in a southern Chinese population.
METHODS: Eleven single-nucleotide polymorphisms (SNPs), rs12701937, rs16892766, rs7014346, rs6983267, rs719725, rs10795668, rs3802842, rs4444235, rs9929218, rs10411210, and rs961253, were genotyped in 229 CRC patients and 267 controls using the MassArray SNP genotyping system.
RESULTS: Evidence of an association with CRC was found for four of the 11 loci. The strongest associations were with rs4444235 and rs961253, with significant odds ratios close to those reported in previous GWAS. Among these four loci, rs719725 and rs4444235 were significantly associated with female gender, rs3802842, rs961253, and rs4444235 with early disease onset, and rs3802842 with later disease onset. However, no associations with CRC risk were detected for six other loci (rs9929218, rs10411210, rs12701937, rs7014346, rs6983267, and rs10795668), and one SNP, rs16892766, was not polymorphic in any of the study participants.
CONCLUSION: The rs4444235 and rs961253 loci are strongly associated with the risk of CRC in southern Chinese.
PMID: 23359760 [PubMed]
Investigation of the ZNF804A gene polymorphism with genetic risk for bipolar disorder in attention deficit hyperactivity disorder.
BMC Res Notes. 2013 Jan 26;6(1):29
Authors: Xu X, Breen G, Luo L, Sun B, Chen CK, Paredes UM, Huang YS, Wu YY, Asherson P
ABSTRACT: BACKGROUND: Genome-wide association studies (GWAS) have been conducted on many psychiatric disorders. Evidence from large GWAS indicates that the single nucleotide polymorphism (SNP) rs1344706 in the zinc-finger protein 804A gene (ZNF804A) is associated with psychotic disorders including bipolar disorder and schizophrenia. One study also found significant association between rs1344706 and the executive control network of attention. In this study we examine the role of the rs1344706 polymorphism that previously showed association with BD and is known to alter expression of the gene in two clinical family-based ADHD samples from the UK and Taiwan. FINDINGS: To investigate the association between rs1344706 and ADHD, two family samples of ADHD probands from the United Kingdom (n = 180) and Taiwan (n = 212) were genotyped using TaqMan SNP genotyping assays and analysed using within-family transmission disequilibrium test. No significant associations were found between rs1344706 polymorphism and ADHD in either of the samples from Taiwan (P = 0.91) and UK (P = 0.41). Even combining the two datasets together the A allele of rs1344706 SNP was still not significantly over-transmitted to affected probands (P = 0.50). Furthermore, there was no evidence of association with the specific symptoms subgroups of inattention or hyperactivity-impulsivity. CONCLUSIONS: In this study we used family-based ADHD data in the UK and Taiwanese population to test for an association between rs1344706 SNP in the ZNF804A gene and ADHD. Results showed no significant association of rs1344706 with ADHD in UK and Taiwanese samples.
PMID: 23351715 [PubMed - as supplied by publisher]