background and aims. the aim of the present study is to determine the incidence of mthfr c677 t and a1298c mutations in iranian patients with cleft lip and/or cleft palate. materials and methods. we screened 61 iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of mthfr gene associated with cleft lip and/or palate: a1298c and c677t, using polymerase chain react...

Warfarin is a commonly-prescribed anticoagulant used to treat and prevent thromboembolic events. The requirement for varying doses of warfarin depends on genetic and environmental components. In this study, the frequency of two single-nucleotide polymorphic variants of the vitamin K epoxide reductase complex subunit 1 (VKORC1) gene (1173 C>T (rs9934438) and 3730 G>A (rs7294)) and its correlatio...

To explore the relationship between vitamin D receptor gene (ApaI, BsmI) genotypes and allele frequency and mild cognitive impairment in Xinjiang Uygur population. The polymorphisms of the VDR genotypes (ApaI and BsmI) were analyzed by Snapshot method in 124 MCI patients and 124 controls. A allele of ApaI gene increased the risk of MCI [OR = 1.62, 95% CI (1.13-2.31)]; AA genotype increased the ...

T-cell acute lymphoblastic leukaemias (T-ALL) are aggressive malignant proliferations characterized by high relapse rates and great genetic heterogeneity. TAL1 is amongst the most frequently deregulated oncogenes. Yet, over half of the TAL1(+) cases lack TAL1 lesions, suggesting unrecognized (epi)genetic deregulation mechanisms. Here we show that TAL1 is normally silenced in the T-cell lineage,...

Abstract Objective The aim of this study was to investigate the potential association rs11206510 in PCSK9 gene with coronary artery disease (CAD) and myocardial infarction (MI) Bulgarians. Materials Methods current analysis included 261 patients angiographically documented CAD (153 MI 108 without MI) 496 population – based controls. Genomic DNA extracted from venous blood samples. selected poly...

BACKGROUND This study explored the association between single nucleotide polymorphisms (SNPs) in the CD40 gene, rs4810485 G > T and rs1883832 C > T, as well as disease susceptibility and severity in knee osteoarthritis (KOA) in the Chinese Han population. METHOD Peripheral venous blood was collected from 133 KOA patients (KOA group) and 143 healthy people (control group) from December 2012 to...

In our studies, we compared the frequency of the occurrence of the RET+3 : T allele in our group of 48 medullary thyroid cancer (MTC)patients with the frequency of occurrence of the allele in the Polish population. The frequency of the occurrence of the heterozygote variant of the RET+3 : T for the Polish population reached almost 12% (18/152) of heterozygotes, but in the group of patients with...

INTRODUCTION Previous studies have found higher circulating levels of tissue inhibitor of matrix metalloproteinase (TIMP)-1 in nonsurviving septic patients than in surviving septic patients, and an association between the 372 T/C genetic polymorphism of TIMP-1 and the risk of developing certain diseases. However, the relationship between genetic polymorphisms of TIMP-1, circulating TIMP-1 level...

Systemic lupus erythematosus (SLE) is associated with immunogenetic factors. This study was planned to test for the association of TNF-α − 308 and IFN-γ + 874 gene polymorphisms with susceptibility and severity of SLE in Egyptian cases.This is a case controlled study including 125 Egyptian cases with SLE in addition to 112 healthy unrelated individuals from the same locality. For all participan...

objective: multiple sclerosis (ms) is a chronic autoimmune disease due to demyelination of the central nervous system. it is believed that cytokines are involved in the pathogenesis of ms. the interleukin-2 (il2) gene is powerful functional candidate that is involved in immune regulation and operation. in this study, for the first time, we investigated the effect of -475 a/t and -631 g/a il2 po...