Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adducin is a heterodymeric cytoskeleton protein, the 3 subunits of which are encoded by genes (ADD1, ADD2, ADD3) mapping to 3 different chromosomes. A long series of parallel studies in the Milan hypertensive rat strain model of hypertension and humans indicated that an altered adducin function may cause hypertension through an enhanced constitutive tubular sodium reabsorption. Six human linkage studies showed positive results when a DNA marker mapping to 30 kb from the ADD1 locus or single-nucleotide polymorphisms (SNPs) of 1 of the 3 adducin genes were considered either alone or in combination with each other or angiotensin-converting enzyme (ACE) D allele or salt intake. When DNA markers mapping at much larger distance from the ADD1 locus were used, negative results were found by 4 studies. Positive results were also obtained in 18 of 20 association studies that, in addition to blood pressure, investigated variables reflecting body sodium or the renin-angiotensin system. Mixed results regarded case-control studies or studies in predominantly normotensive populations that did not consider the above-mentioned variables. Four of 5 studies showed a selective beneficial effect of diuretics in carriers of the mutated ADD1. Twelve of 16 studies found that ADD1 polymorphism alone or in combination with that of ACE positively associates with stroke or coronary heart disease or renal or vascular dysfunctions. In conclusion, when context is taken into account, the impact of adducin in hypertension and its related disorders is clear.
Hypertension 2005 Mar
PMID:Adducin polymorphism: detection and impact on hypertension and related disorders. 1569 49

In this study we have investigated properties of blood serum extracellular DNA (cell-free DNA) from patients with essential arterial hypertension (AH). Cell-free DNA concentration was not changed in the control AH group compared to norma (healthy donors) but fragments of CpG-rich cell-free DNA marker content were increased at transcribed area of ribosomal repeat (TArDNA, CpG-DNA). To evaluate effect of CpG-DNA on AH development in 2-day SHR line and in control normotensive line (WKY), 700 ng of human TArDNA single subcutaneous injection were inoculated to obtain anti-CpG-DNA polyclonal antibodies. These antibodies could change CpG-DNA contents in total cell-free DNA. Blood pressure (BP) in 9-week SHR line rats immunized with CpG-DNA was equal to BP of WKY rats. Then BP of immunized SHR steadily increased with age and reached high value 8 weeks later compared to control SHR rats. Cell-free DNA analysis in 17-week SHR line rats showed significantly reduced concentrations of cell-free DNA and also showed decrease in small DNA fragments content, but increased content of CpG-DNA (rat TArDNA). These changes were accompanied with 3.5-fold blood endonuclease activity increase and decrease of free (unbound to cell-free DNA) anti-CpG-DNA antibodies quantity. Total anti-CpG-DNA antibodies quantity in immunized rats wasn't changed compared to control animals. Thus, observed effect of increase in stable BP elevation age in immunized SHR line rats doesn't relate to increase of anti-CpG-DNA antibody production. Possible reason of this effect is further discussed.
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PMID:[Delayed appearance of hypertension in spontaneously hypertensive rat (SHR) injected with CpG-rich DNA early in ontogenesis]. 2139 71

Aim: The aim of this study was to analyse the frequencies of genotypes and alleles of Single Nucleotide Polymorphisms (SNPs) of six DNA repair genes (XRCC1-rs25487, XPD-rs13181, hMSH2-rs4987188, XRCC2-rs3218536, BRCA1-rs799917 and BRCA2-rs144848 SNPs) and attempt to evaluate the effect this DNA marker on endometrial cancer (EC). Material and methods: The patients were recruited to the study at the Department of Operative Gynaecology of the Institute of the Polish Mother's Memorial Hospital in Lodz. The study comprised 510 patients treated for EC. 510 disease-free individuals were used as controls. SNPs were analysed by the high resolutionmelting technique (HRM). Results: Statistically significant correlations were identified between four SNPs and endometrial cancer risk: rs25487, rs4987188, rs13181 and rs799917. The alleles XRCC1-Gln (OR 2.89; 95% CI 2.39-3.49, P<0.0001), hMSH2-Asp (OR 1.65; 95% CI 1.38-1.96, P<0.0001), XPD-Gln (OR 3.24; 95% CI 2.69-3.91, P<0.0001) and BRCA1-L (OR 1.56; 95% CI 1.31-1.85, P<0.0001) genes were strongly correlated with this malignancy. No relationship was found between the studied polymorphisms of XRCC2 and BRCA2 and the incidence of endometrial cancer. There was also not any association between polymorphisms of XRCC1, hMSH2, XPD, XRCC2, BRCA1, BRCA2, i.e., the polymorphisms of the analysed repair genes, and the cancer stage progression acc. to FIGO, the body mass index, the number of pregnancies in history, replacement therapy, diabetes mellitus and hypertension. Conclusions: The results indicate that rs25487, rs4987188, rs13181, and rs799917 SNPs may be associated with the incidence of endometrial cancer.
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PMID:Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: a case-control study. 3193 77