BACKGROUND Studies have shown that gene and environmental factors, such as BRCA1/2 mutations, ionized radiation, and chemical carcinogens, are related with breast cancer. X-ray repair cross-complementing group 3 (XRCC3) is involved in homologous repair of double DNA breaks. It was reported that Thr241Met single-nucleotide polymorphism (SNP) in XRCC3 is associated with increased risk of breast c...

BACKGROUND The CD1 family is less variable transmembrane antigen presenting molecules related to the MHC molecules. CD1a and CD1e genes are the most polymorphic ones associated with autoimmune diseases. The aim was to better clarify the map of CD1 genes in Southwest Iranian normal population for implications in vaccine design. METHODS In this study we investigated the polymorphism of CD1a, CD...

INTRODUCTION In this article, the COMT gene val(158)met polymorphism and attention-deficit hyperactivity disorder (ADHD)-related differences in diffusion-tensor-imaging-measured white matter (WM) structure in children with ADHD and controls were investigated. PATIENTS AND METHODS A total of 71 children diagnosed with ADHD and 24 controls aged 8-15 years were recruited. Using diffusion tensor ...

We report on the derivation of a diploid 46(XX) human embryonic stem cell (HESC) line that is homozygous for the common deletion associated with Spinal muscular atrophy type 1 (SMA) from a pathenogenetic embryo. By characterizing the methylation status of three different imprinted loci (MEST, SNRPN and H19), monitoring the expression of two parentally imprinted genes (SNRPN and H19) and carryin...

PURPOSE Previous studies investigating the association between EPHX1 polymorphisms (Tyr113His and His139Arg) and cancer risk have yielded inconsistent results. This meta-analysis was performed to derive a more precise estimation of relationship between two EPHX1 polymorphisms and risk of different types of cancer. METHODS Data were extracted from relevant studies detected by a systematic lite...

Objectives: Excess iron stores have been postulated to enhance the risk of ischaemic heart disease. This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C282Y and H63D) are associated with ischaemic heart disease (IHD) or myocardial infarction (MI). Design: Cross sectional case–control study. Setting: The geographical area studied by the MONICA (monit...

The effects of wild germplasm on tomato fruit shelf life have not yet been completely evaluated. Three different genotypes of Lycopersicon esculentum (a cultivated variety, a homozygote for nor and a homozygote for rin), LA1385 of L. esculentum var. cerasiforme, LA722 of L. pimpinellifolium, and 10 diallel hybrids were assayed. Mean values of fruit shelf life, weight, shape, and mean number of ...

Physiological and emotional stressors are associated with or provoke each migraine attack and cause structural and functional changes in the central nervous system. The hippocampus, a limbic structure important in anxiety-related behavior, is vulnerable to long-term stress. Given that catechol-O-methyltransferase (COMT) is widely distributed in the hippocampus and its genetic variation is thoug...

There has been a growing interest in developing strategies for identifying single-nucleotide polymorphisms (SNPs) that explain a linkage signal by joint modeling of linkage and association. We compare several existing methods and propose a new method called the homozygote sharing transmission-disequilibrium test (HSTDT) to detect linkage and association or to identify SNPs explaining the linkag...

The xeroderma pigmentosum group C (XPC) gene plays a significant role in DNA damage recognition during nucleotide excision repair process. Polymorphisms of the XPC gene have been analyzed in numerous casecontrol studies to evaluate bladder cancer risk attributed to XPC genetic variation; however, published data on the association between XPC rs2228001 A/C and bladder cancer risk are inconclusiv...