In the present study, we assessed the impact of functional polymorphisms in the F7 and VKORC1 genes on the coagulation profile and the risk to develop IVH in a cohort of preterm infants.
To the best of our knowledge, this is the first study to investigate the impact of a functional polymorphism in the PAR-1 promoter on the development of COPD and the determination of COPD phenotypes.
Since polymorphisms in CYP19A1 impact estrogen levels, we hypothesized that the presence of functional polymorphisms in this gene would be associated with AIAA among postmenopausal breast cancer survivors on AI therapy.
These polymorphisms, including MTHFR C677T in our research, were all striking examples of functional polymorphisms being strongly selected for in human population in response to environmental stresses.
MiRNA-polymorphisms (miR-polymorphisms or miRSNPs) are a novel class of functional polymorphisms present in the human genome [33], [34].
To investigate the impact of blood type, functional polymorphism T-1676CC) of the COX-1 gene promoter, and clinical factors on the development of peptic ulcer during cardiovascular prophylaxis with low-dose aspirin.
The paper entitled " Impact of blood type, functional polymorphism T-1676CC) of the COX-1 gene promoter and clinical factors on the development of peptic ulcer during cardiovascular prophylaxis with low-dose aspirin" clarified that the C-1676T polymorphinm in the COX-1 gene promoter is not a risk factor for ulcer formation during treatment with low-dose aspirin.
Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders.
Little is known about the functional impact of this polymorphism.
As mentioned above, the two polymorphisms have genetic effects on promoter activity through interactions in vitro; therefore the functional impact of the polymorphism should be considered with respect to the haplotype.
The possible functional impact of the rs258747 polymorphism on NR3C1 function remains unsolved; however, it cannot be excluded that the SNP is located within the sequence involved in gene regulation.
