BACKGROUND Prohibitin 3' untranslated region 1630 C>T (rs6917) polymorphism creates a variant T allele that lacks the antiproliferative activity of the more common functional C allele. Previous studies indicate that women carrying the prohibitin T allele have an increased susceptibility to breast cancer. However, the role of 1630 C>T polymorphism in mRNA expression of prohibitin and its contrib...

background genome-wide association studies have shown that rs738491, rs2143571, and rs3761472 in the sorting and assembly machinery component 50 homolog (samm50) gene are significantly associated with susceptibility to nonalcoholic fatty liver disease (nafld). conclusions we first demonstrated that the rs738491 t allele, rs2143571 a allele, and rs3761472 g allele in the samm50 gene created susc...

Objective(s): Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the...

Background: Tssk2, a member of the testis specific serine/threonine kinase (TSSK) family, is expressed predominantly in the testis and crucial for the formation and function of the sperm cells in mouse. Targeted deletion of Tssk1 and 2 in male chimeric mice caused infertility due to haploinsufficiency of the genes. Therefore it is reasonable to postulate that mutations in its human homologue TS...

MicroRNA polymorphisms may be associated with carcinogenesis or immunopathogenesis of infection. We evaluated whether the mircoRNA-604 (miR-604) polymorphism can affect the persistence of hepatitis B virus (HBV) infection, and the development to hepatocellular carcinoma (HCC) in patients with chronic HBV infection. A total of 1,439 subjects, who have either past or present HBV infection, were e...

Increased trait impulsivity is a core element in several mental disorders. Given the durable and consistent nature of impulsivity, studies have explored its relation to stable biological measures. Variation catecholaminergic neurotransmission by genetic variants could be one these substrates. Here, 905 participants European-ancestry completed Barratt Impulsiveness Scale–11 were genotyped three ...

Genome-wide association studies (GWASs) and a number of case-control studies have suggested that several single nucleotide polymorphisms (SNPs), rs7837328, rs7014346, rs6983267, rs10505477 on CASC8 gene and rs4939827, rs4464148, rs12953717 on SMAD7 gene are significantly correlated with the susceptibility to colorectal cancer (CRC). For the sake of clarifying the association, a meta-analysis wa...

Objective To examine the potential relationship of EPCR polymorphisms and the risk of sepsis in a Chinese population. Methods Snapshot SNP genotyping assays and DNA sequencing methods were used to detect polymorphisms of the EPCR gene, rs2069948C/T (2532C/T) and rs867186A/G (6936A/G), in 64 patients with sepsis and in 113 controls. Soluble EPCR (sEPCR) was measured by ELISA. Results There were ...

AIM Periodontal diseases entail a variety of conditions affecting the periodontium. The pathogenesis results from a complex interaction of genetic and environmental factors. Although there are evidences to confirm a role of genetic determinants, the outcome of the available studies is controversial and the largest part of the research has been carried out in Asian populations. METHODS We inve...