मेटाबोलॉमिक्स: ओपन एक्सेस

Introduction: Common variants on human chromosome 8q24 were found to be associated with prostate cancer risk with different frequency and incidence among the investigated populations. We examined the effect of smoke on this type of cancer and its relationship with the risk variant rs6983267, located at region 3 of chromosome 8q24, in a prostate cancer case-control study conducted in the Greek population in light, intermediate and heavy smokers.

Materials and methods: Samples of total blood from 74 patients with histologically confirmed prostate cancer and 24 healthy individuals were genotyped using real time polymerase chain reaction (PCR). Tumor-node-metastasis (TNM) stage, Gleason score and levels of prostate-specific antigen (PSA) at diagnosis were included in the analysis.

Results: Light (Packyears, PY<10) and heavy (PY>30) smokers are positive associated with prostate cancer, with an additive risk for the carriers of rs6983267 with positive smoking history (ORadj=21.36, C.L=3.79-120.39) to develop the disease.

Conclusions: The SNP, rs6983267, has an independent risk for carriers to develop prostate cancer and in combination with smoke; it confers additive risk for the disease, similarly to others, well established risk factors such as age, family history and ethnicity.

While some potential biomarkers for ocular diseases have been reported, it is difficult to select a single biomarker that is most important in each ocular disease. After reviewing multiple biomarker studies conducted on small sample subgroups, we concluded that newer analysis techniques may result in different and more specific findings. While progress has been made in developing various omics studies, studies comparing tears of normal and diseased eyes are still lacking. Preliminary omics studies suggest the importance of further studies aimed at identifying potential ocular-associated lipid, non-lipid/protein, and protein biomarkers. In addition, combining potential biomarkers might be a good strategy for the diagnosis and assessment of ocular diseases.

Aims:P-glycoprotein (P-gp, ABCB1, MDR1) and breast cancer resistance protein (BCRP, ABCG2) protect the luminal cells of the gastro-intestinal tract from potentially toxic substances. Genetic polymorphisms have previously been associated with disease susceptibility, severity, and treatment prognosis of inflammatory bowel disease. We investigated the prevalence of frequent single nucleotide polymorphisms of P-gp and BCRP in the Swiss population in healthy volunteers (n = 17) and patients newly diagnosed with Crohn’s Disease (CD, n = 34) or Ulcerative Colitis (UC, n = 38).

Methods:DNA from peripheral blood cells was used to assess genotype and allele frequencies of MDR1 C3435T, MDR1 G2677T, and BCRP C421A.

Results:Weak associations for BCRP C421A (p < 0.18) and MDR1 G2677T (p < 0.27) were seen in UC and a trend towards the wild type allele for MDR1 C3435T (p < 0.46). MDR1 3435CC / BCRP 421CC (Χ2: 1.0142, p < 0.30) in UC and MDR1 2677G / BCRP 421A (Χ2: 1.5615, p < 0.22) also weakly correlated with UC. Results for BCRP C421A in particular justify further study.

Conclusions:Trends towards certain alleles and haplotypes were seen. These merit further studies in larger subgroups (e.g. by disease stage, therapy refractory patients, etc.).