Genetics of human height.

Height is correlated with risk to certain diseases and various socio-economic outcomes. As an easy to observe and measure trait, it has been a classic paradigm in the emergence of fundamental concepts regarding inheritance and genetics. Resemblances in height between relatives suggest that 80% of height variation is under genetic control with the rest controlled by environmental factors such as diet and disease exposure.

No evidence that GATA3 rs570613 SNP modifies breast cancer risk.

GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (P (trend) = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al.

Breast cancer stem cells: implications for therapy of breast cancer.

The concept of cancer stem cells responsible for tumour origin, maintenance, and resistance to treatment has gained prominence in the field of breast cancer research. The therapeutic targeting of these cells has the potential to eliminate residual disease and may become an important component of a multimodality treatment. Recent improvements in immunotherapy targeting of tumour-associated antigens have advanced the prospect of targeting breast cancer stem cells, an approach that might lead to more meaningful clinical remissions.

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Purpose: Rare missense substitutions and in-frame deletions of BRCA1 and BRCA2 genes present a challenge for genetic counseling of individuals carrying such unclassified variants. We assessed the value of tumor immunohistochemical markers in conjunction with genetic and evolutionary approaches for investigating the clinical significance of unclassified variants.

Patients And Methods: We studied 10 BRCA1 and 12 BRCA2 variants identified in Australian families with breast cancer.

Heritability in the genomics era--concepts and misconceptions.

Heritability allows a comparison of the relative importance of genes and environment to the variation of traits within and across populations. The concept of heritability and its definition as an estimable, dimensionless population parameter was introduced by Sewall Wright and Ronald Fisher nearly a century ago. Despite continuous misunderstandings and controversies over its use and application, heritability remains key to the response to selection in evolutionary biology and agriculture, and to the prediction of disease risk in medicine.

Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies.

Association studies aimed at identifying breast cancer susceptibility variants in the progesterone receptor (PGR) gene have been previously reported in the literature with conflicting results, ranging from a protective effect conferred by the PROGINS allele in German Caucasian women, to an increased risk for the leucine variant of the Val660Leu (rs1042838) polymorphism in East Anglian cases. We report the results of genotype and haplotype analyses of five PGR polymorphisms, +44C/T (rs518162), +331G/A (rs10895068), V660L (rs1042838), H770H (rs1042839) and Q886Q (rs500760), conducted on 1,847 Australian breast cancer cases (including 276 cases from a cohort of multiple-case breast cancer families) and 833 controls. Genotype and haplotype analyses of the five polymorphisms showed no evidence of an association with breast cancer (p>0.

Will diverse Tat interactions lead to novel antiretroviral drug targets?

More than fifteen years following the description of Tat as a critical HIV gene expression regulatory protein, additional roles for Tat in HIV replication have been described, including reverse transcription. Tat achieves function through direct interaction with viral proteins, including reverse transcriptase, and numerous cellular proteins including cyclin T1, RNA polymerase II, protein kinase R (PKR), p300/CBP, and P/CAF. Despite our advanced knowledge of how Tat operates, this has not yet resulted in the discovery of effective agents capable of targeting various Tat functions.

Unequal treatment access and malaria risk in a community-based intervention program in the Philippines.

This study assesses the influence of several malaria risk factors and volunteer health worker (VHW) accessibility on parasite prevalence and treatment-seeking in a remote area of Mindanao, the Philippines. An anti-malaria program in the area seeks to devolve malaria diagnosis and treatment to the VHWs. Firstly, the relationship between malaria and demographic factors, bednet use, and access to treatment was investigated.

Copro-PCR based detection of Schistosoma eggs using mitochondrial DNA markers.

We report on a sensitive, specific and easy to interpret PCR based diagnostic tool for the detection of Schistosoma japonicum eggs in the faeces of infected mammalian hosts. Primer pairs were designed to amplify regions of the mitochondrial DNA of the parasite. The specificity of the PCR primers was tested using either faecal samples from non-infected hosts or hosts infected with the related schistosome species S.

The ultrastructural architecture of the adult Schistosoma japonicum tegument.

The tegument of the adult blood fluke Schistosoma japonicum is in direct contact with the host blood and immune systems. A comprehensive understanding of the ultrastructure of the tegument is crucial to the understanding of how the parasite maintains itself within the mammalian host. Important functions such as nutritional uptake and immune evasion are suspected functions of the tegument and this review discusses these aspects and presents some insights into some of these crucial functions.

Epstein-Barr virus vaccine: a cytotoxic T-cell-based approach.

Epstein-Barr virus infects more than 95% of the human population and is linked to infectious mononucleosis as well as a series of geographically-defined cancers. To date, there is no prophylactic or therapeutic vaccine available for Epstein-Barr virus-associated diseases. New immunotherapeutic approaches, based on cytotoxic T-cells, are being developed depending on the degree of Epstein-Barr virus antigen expression in infected cells.

Cyclosporin A pretreatment in a rat model of warm ischaemia/reperfusion injury.

Background/aims: These studies investigated the role of apoptosis following ischaemia/reperfusion (I/R) injury to the liver and the effect of pretreatment with Cyclosporin A.

Methods: Male Sprague-Dawley rats received 30 min of warm ischaemia followed by a period of reperfusion of 6 h. Rats were given olive oil or Cyclosporin A (30 mg/kg p.

Functional evidence for a colorectal cancer tumor suppressor gene at chromosome 8p22-23 by monochromosome transfer.

Chromosome 8p is considered, from loss of heterozygosity analysis, to be a strong candidate for the location of a tumor suppressor gene inactivated in colorectal cancer. We have found a 53% (27 of 51) rate of allelic loss at the LPL locus on 8p22, with the smallest region of overlap of deletions including the region D8S258 to D8S277. Using microcell-mediated monochromosome 8 transfer into three colorectal cancer cell lines, SW480, SW620 and HT29, we have demonstrated a reduction of tumorigenicity in SW620 hybrids.