XRCC1 and OGG1 gene polymorphisms and breast cancer: a systematic review of literature

Context: Known polymorphisms of DNA repair genes can be associated with the risk of many types of cancer. There is no consensus regarding association between XRCC1 and OGG1 with breast cancer [BC]

Objectives: The aim of this study is to collect relevant published studies systematically

Data Sources: Sixty-two publications were identified through searching PubMed, PubMed Central, ISI web of knowledge, and reference list of related articles

Study Selection: We performed a systematic review according MOOSE guideline criteria. All longitudinal cohort and case-control studies investigating association of any type and grade of breast cancer with XRCC1 and OGG1 gene and their polymorphisms were eligible for initial inclusion

Data Extraction: Two authors screened titles and abstracts and extracted all needed information from eligible studies. Four research methodological components causing bias for the association between gene polymorphisms and breast cancer risk, including source of controls sampling, population ethnicity, sample size of studies and menopausal status of cases and controls was used for assessment of quality of studies

Results: A total of 14,793 breast cancer cases and 15,409 controls were included in assessment of XRCC1 Arg194Trp. Four studies showed significant association and one study showed protective effect of XRCC1 Arg194Trp and BC. A total of 7,716 cases and 7,370 controls were included for XRCC1 Arg280His. Only one study showed significant association of XRCC1 Arg280His and breast cancer [OR = 1.82 [1.06 - 3.15]. A total of 27,167 cases and 31,998 controls were included to estimate association between XRCC1 Arg399Gln polymorphism and breast cancer. Seven studies showed significant association and one showed protective effect of XRCC1 Arg399Gln and BC. A total of 9,417 cases and 11,087 controls were included for OGG1 Ser326Cys. Among studies focused on OGG1 Ser326Cys, none showed significant association with breast cancer

Conclusions: Systematic search of major databases identify many studies addressing the relationship between BC and susceptible alleles in the base excision repair genes and the fact that there are many variations in the magnitude of association depending on inheritance model and the population of the study

Association analysis of DISC1 gene polymorphisms with Attention-Deficit Hyperactivity Disorder in Iranian population

Attention deficit hyperactivity disorder [ADHD] is a common heritable psychiatric disorder with a worldwide prevalence of 5%. The etiology of ADHD is still incompletely understood, but several studies, consistently indicate the strong role of genetic factors on this disorder. The aim of this study was to determine the effect of three SNPs rs11122319, rs11122330 and rs6675281 in the etiology of ADHD in an Iranian children. In this research work, for the first time, we investigated the association of three SNPs [rs11122330, rs6675281 and rs11122319] in theD/5C7 gene with ADHD in Iranian population. Two hundred fourthy subjects composed of 120 patients and 120 healthy controls were included and tetra-primer ARMS PCR technique was used for genotyping all selected SNPs. We found differences in genotype and allele distributions of rs 6675281 polymorphism between our patients and controls. The A, T and A alleles were the more frequent alleles in rs11122319, rs6675281 and rs11122330 polymorphisms in both case and control groups respectively. The TT genotype was more frequent in control group compared to patients. [P value = 0.008, OR= 1.5837, 95% Cl= 1.1012 to 2.2776], Our findings strengthens the role of DISC1 gene as a susceptibility locus for ADHD and indicate that rs6675281 polymorphism is a susceptibility factor for ADHD for the first time in children reported in an Iranian population in this part of the world

FABP9 mutations are not detected in cases of infertility due to sperm morphological defects in Iranian men

Fatty acid binding proteins [FABPs] are members of the intracellular lipid binding protein [iLBPs] family and most of them show tissue specific expression. FABP9/PERF15 [Perforatorial15] is the male germ cell-specific fatty acid-binding protein. It was first identified as the major constituent of the murine sperm perforatorium and perinuclear theca. To date, investigations in mice have demonstrated that this protein has a role in the male reproductive system, especially in spermatogenesis. Also, it has been reported that FABP9 can protect sperm fatty acids from oxidative damage. Recently it was shown that it can affect sperm morphology in mice. Based on these findings, we designed a study to evaluate if mutations of this gene can affect sperm morphology in humans. In this case-control study, DNA was extracted from peripheral blood of 100 infertile males with normal sperm count but with a number of morphologically abnormal sperms in their semen that was above normal. Four exons and one intron of the FABP9 gene were amplified by polymerase chain reaction [PCR], re-sequenced and then analyzed for mutation detection. We did not detect any mutation in any area of the four exons, intron 3 and splice sites of FABP9 gene in any of the studied 100 samples. There was no mutation in the exonic regions and the poor sperm morphology. However, we didn't analyze the promoter, intron 1 and 2 to establish conclusions regarding the association of these genic regions and sperm dysmorphology

structure biology and application of phytohemagglutinin [PHA] in phytomedicine: with special up-to-date references to lectins

Lectins first discovered more than 100 years ago in plants, they are now known to be present throughout nature. Phytohemagglutinin [PHA], the lectin extract from the red kidney bean [Phaseolus Vulgaris], contain potent, cell agglutinating and mitogenic activities. They play a role in biological recognition phenomena involving cells and proteins towards medical applications. The present article is a brief review of the history of lectin in nature. By reviewing the web-based search for all types of peer review articles published, was initiated using ISI web of Sciences and Medline / PubMed, and other pertinent references on websites about lectins. Here, we present a brief account of 100-plus years of lectin research and show how these proteins have become the focus of intense interest for biologists and in particular for the research and applications in medicine. Phytohemagglutinin, has been widely used for mitotic stimulation to human lymphocytes, cell arrest, or apoptosis, potential sources for developing novel pharmaceutical preparation and intensive interest for health care services, biologist and phytomedicine research can be considered

Variant complex chromosome translocation with chronic and acute myeloid leukemia

A large number of simple or complex translocation involving the CML and AML chromosomal abnormalities has been described. This study was aimed to investigate the complex chromosome aberrations in the series of myeloid malignancies including CML and AML. The present report deals analyzed 187 consecutive with CML and AML patients, using Methotrexate cell synchronization and un-stimulated cultures of cells to determine the incidence of chromosomal aberrations and association of complex variant chromosome anomalies according to French American British morphological subtypes. The results revealed an abnormal karyotype with a novel complex translocation involving chromosomes 1,2,4,9,11,22. Complex variant translocations were found in two cases of AML and two cases of CML. The present reports provides sufficient grounds for assuming that a chromosomes involving of complex abnormalities plays an important role in the development of malignancy