A lack of association between genetic polymorphisms in beta-defensins and susceptibility of psoriasis in Taiwanese: A case–control study

AbstractBackgroundGenetic predisposition of the inflammatory-host response may affect the development of psoriasis. Previous studies have shown that copy number variations (CNVs) of β-defensin genes (DEFB) are associated with the susceptibility of psoriasis in Caucasian populations.ObjectivesThis study aimed to assess the role of the CNVs of the DEFB4 gene and functional variants in the DEFB1 gene in Taiwanese patients with psoriasis.MethodsIn total, 196 patients with psoriasis and 196 control individuals were analyzed for the presence of the DEFB4 CNVs using the paralogue ratio test, and also for the DEFB1 polymorphisms rs11362, rs1800972, and rs1799946, using a polymerase chain reaction.ResultsNone of the polymorphisms were found to be associated with psoriasis. The distribution of DEFB4 genomic CNVs did not significantly differ between the control group and psoriasis group. The frequencies of patients who carried a greater than the median (≥ 5) number of copies did not significantly differ in patients with psoriasis and controls. The multivariate analysis similarly revealed that the DEFB4 CNVs were not associated with psoriasis (odds ratio = 1.03, 95% confidence interval = 0.89–1.19, p = 0.720). No significant difference was detected in the genotype and allele distribution for any of the individual DEFB1 polymorphisms between the cases and the controls. Finally, the overall haplotype frequency profiles derived from the three polymorphisms did not significantly differ between the cases and the controls.ConclusionOur results do not suggest that these genetic variants of the β-defensin genes contribute to the genetic background of psoriasis in Taiwanese patients

Gene-Gene Interactions in Renin-Angiotensin-Aldosterone System Contributes to End-Stage Renal Disease Susceptibility in a Han Chinese Population

Objective. In this study, we investigated whether RAAS gene single nucleotide polymorphisms (SNPs) and their interactions were associated with end-stage renal stage (ESRD). Methodology and Results. This was a case-control study for 647 ESRD cases and 644 controls. AGT (M235T (rs699) and T174M (rs4762)), AGTR1 (A1166C (rs5186) and C573T (rs5182)), ACE (I/D (rs1799752) and G2350A (rs4343)), and CYP11B2 C-344T (rs1799998) were genotyped and compared between cases and controls to identify SNPs associated with ESRD susceptibility. Multifactor dimensionality reduction (MDR) was used to identify gene-gene interactions. Several RAAS genes were associated with ESRD: AGT M235T, ACE I/D, ACE G2350A, and CYP11B2 C-344T. By MDR analysis, a three-locus model (ACE ID/ACE G2350A/CYP11B2 C-344T) of gene-gene interaction was the best for predicting ESRD risk, and its maximum testing accuracy was 56.08% and maximum cross-validation consistency was 9/10. ESRD risk was higher with the simultaneous occurrence of ACE I/D DD-ACE G2350A AA. AGT, ACE, and CYP11B2 gene polymorphisms are associated with ESRD. Conclusions. The gene-gene interaction effects of ACE I/D, ACE G2350A, and CYP11B2 C-344T polymorphisms are more important than individual factors for ESRD development among Han Chinese

Hybrid Surface-Enhanced Raman Scattering Substrate from Gold Nanoparticle and Photonic Crystal: Maneuverability and Uniformity of Raman Spectra

[[abstract]]A novel hybrid surface-enhanced Raman scattering (SERS) substrate based on Au nanoparticles decorated inverse opal (IO) photonic crystal (PhC) is presented. In addition to the enhancement contributed from Au nanoparticles, a desired Raman signal can be selectively further enhanced by appropriately overlapping the center of photonic bandgap of the IO PhC with the wavelength of the Raman signal. Furthermore, the lattice structure of the IO PhC provides excellent control of the distribution of Au nanoparticles to produce SERS spectra with high uniformity. The new design of SERS substrate provides extra maneuverability for ultra-high sensitivity sensor applications.[[notice]]補正完

A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease

Inherited cardiac conduction disease (CCD) is rare; it is caused by a large number of mutations in genes encoding cardiac ion channels and cytoskeletal proteins. Recently, whole-exome sequencing has been successfully used to identify causal mutations for rare monogenic Mendelian diseases. We used trio-based whole-exome sequencing to study a Chinese family with multiple family members affected by CCD, and identified a heterozygous missense mutation (c.343C>T, p.Leu115Phe) in the desmin (DES) gene as the most likely candidate causal mutation for the development of CCD in this family. The mutation is novel and is predicted to affect the conformation of the coiled-coil rod domain of DES according to structural model prediction. Its pathogenicity in desmin protein aggregation was further confirmed by expressing the mutation, both in a cellular model and a CRISPR/CAS9 knock-in mouse model. In conclusion, our results suggest that whole-exome sequencing is a feasible approach to identify candidate genes underlying inherited conduction diseases

Alcohol consumption, aldehyde dehydrogenase 2 gene rs671 polymorphism, and psoriasis in Taiwan

Background: Although alcohol use has been determined as a predisposing factor for psoriasis, research findings have been inconsistent. Objectives: This study investigated whether alcohol intake is causally linked to psoriasis. Methods: The presence of rs671 polymorphism in the aldehyde dehydrogenase 2 (ALDH2) gene was investigated in 258 psoriasis patients and 605 healthy controls. The rs671 was employed as an instrumental variable for predicting alcohol use. Mendelian randomization (MR) was utilized to assess the causality between genetically determined alcohol consumption and psoriasis using the two-stage least-square (2SLS) approach. A replication study of MR analysis with inverse-variance weighting (IVW), MR-Egger regression, and weighted median methods was performed using openly accessible alcohol consumption and psoriasis summary statistics from the UK Biobank. Results: Between psoriasis and controls, there were no significant differences in genotype and allele frequencies for the ALDH2 rs671 polymorphism. The G allele of the rs671 was positively linked with alcohol intake. The ALDH2 rs671 genetically determined alcohol intake was not linked to the risk of psoriasis in the 2SLS analysis (β = −0.011, P = 0.960). The MR replication study also found no evidence of genetic propensity to greater alcohol consumption increasing the risk of psoriasis (β = −0.00065, P = 0.6002 in IVW; β = −0.00099, P = 0.6851 in MR-Egger; and β = −0.00181, P = 0.3558 in weighted median analysis). Conclusion: ALDH2 rs671 may not have a role in psoriasis susceptibility in Taiwanese. The MR analysis found no causality between alcohol consumption and psoriasis

Acute Myeloid Leukemia Associated with Acute Myocardial Infarction and Dural Sinus Thrombosis: The Possible Role of Leukemia-related Hyperhomocysteinemia

The association of acute myeloid leukemia (AML) and acute myocardial infarction (AMI) is rare. We encountered a 40-year-old female with inferior wall myocardial infarction that occurred simultaneously with the diagnosis of AML. She developed subsequent dural sinus thrombosis during chemotherapy for AML. The screen for thrombophilia revealed that she had hyperhomocysteinemia. In the English literature, only 4 cases have been reported previously. Remission induction was not affected by the occurrence of AMI, although anthracyclines were avoided in all cases. In the absence of conventional risk factors for coronary artery disease, AMI can be related to leukemia per se and the role of homocysteine is worth further investigation

Paper-Based Microfluidics Perform Mixing Effects by Utilizing Planar Constricted–Expanded Structures to Enhance Chaotic Advection

This study aimed to design and fabricate planar constricted–expanded structures that are integrated into paper-based channels in order to enhance their chaotic advection and improve their mixing performance. Chromatography papers were used to print paper-based microfluidics using a solid-wax printer. Three different constricted–expanded structures—i.e., zigzag, crossed, and curved channels—were designed in order to evaluate their mixing performance in comparison with that of straight channels. A numerical simulation was performed in order to investigate the mixing mechanism, and to examine the ways in which the planar constricted–expanded structures affected the flow patterns. The experimental and numerical results indicated that the proposed structures can successfully mix confluents. The experimental results revealed that the mixing indices (σ) rose from the initial 20.1% (unmixed) to 34.5%, 84.3%, 87.3%, and 92.4% for the straight, zigzag, curved, and cross-shaped channels, respectively. In addition, the numerical calculations showed a reasonable agreement with the experimental results, with a variation in the range of 1.0–11.0%. In future, we hope that the proposed passive paper-based mixers will be a crucial component in the application of paper-based microfluidic devices