The association between endoplasmic reticulum aminopeptidase 2 gene single nucleotide polymorphisms and the risk of psoriasis and psoriatic arthritis in Egyptians.

BACKGROUND: Psoriasis (Ps) is a disorder attributed to the immune system that involves inflammation of the skin and joints. Psoriasis is a multifactorial disorder in which genetic factors represent about 70% of the disease risk. This study aims to establish the correlation between the ERAP2 gene's single nucleotide polymorphisms (SNPs) rs2910686 and rs2248374 with the susceptibility to Ps and/or psoriatic arthritis (PsA) among the Egyptian population. METHODS AND RESULTS: Genotyping of ERAP2 gene SNPs (rs2910686 and rs2248374) in 120 psoriatic patients with and without arthritis and 100 controls was done using real-time PCR. The genotype frequency and distribution of the ERAP2 SNP (rs2910686 and rs2248374) were in Hardy-Weinberg equilibrium (HWE). For rs2910686, the TC and CC genotypes and C allele frequency were significant risk factors for PsA compared to the controls (OR = 5.708, OR = 10.165, and OR = 4.282, respectively). They also were significant risk factors for Ps compared to the controls (OR = 5.165, OR = 5.040, and OR = 3.258, respectively). For rs2248374, the AG genotype significantly increased the risk of PsA (OR = 2.605) and Ps (OR = 3.768) compared to controls. The AG genotype was significantly related to the risk of Ps (OR = 3.369) G allele with PsA (OR = 1.608) and Ps (OR = 1.965) compared to controls. CONCLUSION: In Egyptian individuals, the ERAP2 gene polymorphisms (rs2248374 and rs2910686) may contribute genetically to the pathophysiology of psoriasis and PsA.

Clinical Significance of MiR-130b and MiR-125b as Biomarkers in Hepatocellular Carcinoma.

OBJECTIVE: This study aimed to assess the role of miR-130b and miR-125b expression in Hepatocellular Carcinoma (HCC) progression. SUBJECTS AND METHODS: This study was carried out on 150 subjects classified into three groups: Group I, 50 healthy controls; Group II, 50 patients with liver cirrhosis; Group III, 50 patients with HCV related HCC. The controls were frequency matched based on age and sex with the other groups. All individuals were subjected to testing for liver function, alpha-fetoprotein (AFP), and viral markers. miR-130b and miR-125b were detected in plasma using a quantitative real-time RT-PCR. RESULTS: miR-130b was significantly upregulated, whereas miR-125b was significantly downregulated in HCC patients compared with cirrhotic patients and healthy controls. There was a significant correlation between miR-130b and AFP and tumor size. Receiver operating curve (ROC) analyses suggested that plasma miR-130b had a significant diagnostic value for HCC with a sensitivity of 92% and a specificity of 77.5%.  A sensitivity of 85.5% and a specificity of 82.5% was observed for  miR-125b for HCC. CONCLUSION: Plasma miR-130b and miR-125b may play a role in disease progression and development of HCC and may act as potential biomarkers for the diagnosis of HCC.

Potential role of MicroRNA 200c gene expression in assessment of colorectal cancer.

BACKGROUND AND AIM: Colorectal cancer (CRC) is a common cancer worldwide that affects men and women of all racial and ethnic groups. Recent evidence supports the role of microRNAs in CRC. We planned to investigate microRNA200c expression and its relation with diagnosis, prognosis, metastasis and overall survival in CRC patients. This study enrolled 90 subjects (3'0 CRC patients, 30 patients with benign colorectal polyps and 30 healthy control subjects). METHODS: Laboratory investigations included measurement of serum CA19-9 and CEA by enzyme linked immunosorbent assay (ELISA) method and relative quantitation (RQ) of microRNA200c gene expression by real time PCR technique. RESULTS: Significant higher MicroRNA200c expression levels in CRC patients versus both benign (P < 0.011) and control groups (P < 0.001), additionally, benign group had elevated levels versus control (P < 0.001). MicroRNA 200c at cutoff >4.56 had sensitivity 86.67% and specificity 73.33% (P < 0.001) for CRC discrimination. Kaplan-Meier survival analysis revealed significant association (P = 0.028) of high expression of microRNA200c with decreased overall survival. CONCLUSION: Noticeable up-regulation of microRNA200c in CRC and its remarkable relation with unfavorable survival suggesting its potential dual use as a diagnostic and prognostic biomarker for CRC.

Biochemical and molecular study on interleukin-1ß gene expression and relation of single nucleotide polymorphism in promoter region with Type 2 diabetes mellitus.

Interleukin-1ß (IL-1ß) assumes a centric role in the regulation of immune and inflammatory responses and thus has been recognized in immune mediated diseases like type 2 diabetes mellitus (T2DM). We aimed to investigate expressed level of IL-1ß and its relation with IL-1ß -511T>C polymorphism in T2DM patients. This study enrolled 80 subjects (50 patients with T2DM and 30 healthy control subjects). Laboratory investigations included fasting (FBG) and 2 h postprandial blood sugar (2 h PBG), HBA1c, lipid profile, and renal function tests. Genotyping of IL-1ß -511T>C (rs16944) SNP assay by real-time PCR and relative quantitation of IL-1ß gene expression transcript by real-time PCR. RESULTS: T2DM patients had significantly higher FBG and 2 h PBG, HBA1c, LDLc, TC, TG, systolic, and diastolic BP while lower HDLc compared with control group. IL 1- ß -511 T>C, CC genotype and C allele were significantly associated with risk of T2DM with odds ratio (OR) 4.73, 95%CI (1.21-18.39) and OR 2.27, 95%CI (1.72-4.40), respectively. Moreover, diabetic patients had significantly higher IL 1- ß gene transcript compared with control group (P < 0.001). CC genotype of IL 1- ß -511 T > C had the highest significant level of IL 1- ß gene transcript demonstrated compared with C/T and T/T genotypes (P < 0.001) in patients. CONCLUSION: C allele of IL-1 ß -511 T >C could be considered risk factor contributor to T2DM and excess level of IL-1 ß transcript may disclose to some degree the inflammatory role of cytokines in T2DM.