ABSTRACT
BACKGROUND/AIM: Genetic polymorphism is a strong risk factor for coronary artery disease (CAD). In the present study, our aim was to evaluate angiotensin-converting enzyme (ACE) gene I/D polymorphism and interleukin-4 (IL-4) gene Intron 3 variable number of tandem repeat (VNTR) polymorphism in CAD. MATERIALS AND METHODS: One hundred and twenty-four CAD patients and one hundred and twenty-three controls were enrolled. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) analyses. RESULTS: The risk associated with inheriting the combined genotypes for the two polymorphisms were evaluated and it was found that the individuals who were P2P2-homozygous at IL-4 gene intron 3 VNTR and DD-homozygous at ACE gene I/D have a higher risk of developing CAD. CONCLUSION: Although, there is no correlation between IL4 VNTR polymorphism and ACE gene polymorphism and CAD, there is a strong association between CAD and co-existence of IL-4 VNTR and ACE gene polymorphisms in the Turkish population.
Subject(s)
Coronary Artery Disease/genetics , INDEL Mutation , Interleukin-4/genetics , Introns , Minisatellite Repeats , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic , Aged , Alleles , Case-Control Studies , Female , Gene Frequency , Genetic Association Studies , Genotype , Humans , Male , Middle Aged , Odds Ratio , Risk FactorsABSTRACT
Klippel-Trenaunay syndrome (KTS) is a rare, sporadic and complex malformation characterized by the clinical triad of: (i) capillary malformation (port-wine stain); (ii) soft tissue and bone hypertrophy or occasionally, hypertrophy of one lower limb; and (iii) atypical lateral varicosity. The maternal and fetal risks associated with pregnancy in women with KTS are proportional to disease severity, which can be exacerbated by pregnancy. Complications include bleeding, disseminated intravascular coagulation, thromboembolic events and pain. Here, we report the case of a pregnant woman with KTS who had an uneventful pregnancy, labor and postpartum course, but had splenic and large vulvar vein varices. The obstetrical course of women with KTS varies. Management is largely conservative and multidisciplinary approaches form the mainstay for managing these patients based on their symptoms.
