Highlights from the February 2011 Issue of DNA and Cell Biology

T his month's issue of DNA and Cell Biology features several papers describing investigations of multiple forms of genomic variation and the potential role of these differences in disease. Large-scale DNA sequencing and analysis efforts, including the 1000 Genomes and HapMap Projects, have cataloged millions of single base pair changes and others variations, such as gene copy number or repeat length, in the human genome. Many investigators are studying whether there is a link between a given change in the genome and the risk of developing a certain condition or the resulting clinical outcome.

In the February 2011 issue, two papers address G>A polymorphisms that may have profound effects. Sousa and colleagues discuss an association between a single nucleotide polymorphism in the tumor necrosis factor alpha gene and development of nasopharyngeal cancer in a Portuguese population in their work, “Genetic Risk Markers for Nasopharyngeal Carcinoma in Portugal: Tumor Necrosis Factor Alpha −308 G>A Polymorphism.” Likewise, “Lysyl Oxidase 473 G>A Polymorphism and Breast Cancer Susceptibility in a Han Chinese Population” examines the link between a single nucleotide polymorphism resulting in a change of one amino acid within a highly conserved region of lysyl oxidase and breast cancer in Han Chinese.

Other forms of genomic variation are also associated with disease risk. Jia and colleagues examined variation in the length of the inducible nitric oxide synthase gene promoter and found that a higher number of repeats of a nucleotide sequence within the promoter was associated with increased migraine risk as reported in “Association of the Pentanucleotide Repeat Polymorphism in NOS2 Promoter Region with Susceptibility to Migraine in a Chinese Population.” Kulkarni et al. measured DNA methylation in placental tissues of women with and without pre-eclampsia, a condition characterized by high blood pressure during the second half of pregnancy that can lead to serious health problems for both mother and baby. In their paper, “Global DNA Methylation Patterns in Placenta and its Association with Maternal Hypertension in Pre-eclampsia,” Kulkarni and colleagues report that higher DNA methylation levels were detected in tissues from pre-eclampic women than in tissue collected from women with uncomplicated pregnancies and that high levels of DNA methylation correlate with high blood pressure.

All of these papers, and others in this issue of DNA and Cell Biology, add additional pieces to the rapidly growing body of knowledge concerning the role of seemingly minor mutations or epigenetic variation in the risk for or clinical outcome of a variety of medical conditions and diseases in multiple ethnic groups. As the data set expands, it may suggest mechanistic studies, therapeutic targets, or tailored medical interventions, that will establish causal relationships and begin to ameliorate the condition to eventually improve global health.