A high incidence of somatic mtDNA polymorphisms has been reported in a wide variety of human cancers; some of them have been proposed as markers for the early detection of breast cancer. However, little attention has been paid to the potential of germline mitochondrial sequence variations as genetic risk factors for cancer.
We determined whether ADRβ3 polymorphism is associated with obesity-related traits in 140 obese patients. Molecular analysis was performed by PCR and RFLP. Individuals carrying the Arg64 allele had a lower waist-to-hip ratio, higher adiponectin and high-density lipoprotein cholesterol levels, and a tendency towards lower blood pressure. In contrast, Trp64/Trp64 carriers were at greater risk for dysmetabolic phenotypes (odds ratio = 2.88, P = 0.03).
Peroxisome proliferator-activated receptor delta (PPAR-δ) is a transcription factor implicated in metabolism and inflammation. The +294T/C polymorphism in the PPAR-δ gene is associated with risk of coronary artery disease (CAD) in dyslipidemic women and hypercholesterolemic men. Whether this polymorphism influences the risk of CAD in the absence of dyslipidemia was not known, so we investigated a possible association of this polymorphism with plasma lipid and lipoprotein levels and with risk and outcome of CAD in a normolipidemic Tunisian population.
In order to determine whether Pro12Ala polymorphism of the peroxisome proliferator-activated receptor γ2 (PPARγ2) gene contributes to susceptibility to primary hypertension and metabolic lipid disorders, 482 unrelated subjects from Inner Mongolia were studied, including 137 healthy normotensive (controls) and 345 hypertensive subjects. PCR-RFLP was used to determine the genotypes of Pro12Ala variants of the PPARγ2 gene, and direct sequencing was used to check the results. The frequency of the Ala allele was lower in patients with hypertension (1.3%) than in controls (3.6%).
Despite the implementation control programs, schistosomiasis continues to spread throughout the world. Among modern control strategies, vector control is currently being emphasized. Within this context, analysis of the genetic variability of intermediate host snails (Biomphalaria spp) is important because it allows identification of specific sequences of the genome of this mollusk related to susceptibility/resistance to Schistosoma mansoni infection.
One of the most frequently observed causes of blindness in infancy is the pathogenesis known as retinopathy of prematurity (ROP). Angiotensin-converting enzyme (ACE) is a vital enzyme in the renin-angiotensin-aldosterone system; it is involved in the development of cardiovascular system diseases linked to I/D polymorphism of the ACE gene.
We examined the effect of polymorphisms in the endothelial nitric oxide synthase gene on the risk for essential hypertension in a Han Chinese population through a meta-analysis of data from 15 studies. Associations between increased risk for essential hypertension and 4b/a were obtained in a dominant model and allele contrast (aa + ab vs bb: odds ratio (OR)FE = 1.26, 95% confidence interval (CI) = 1.10-1.44; a vs b allele: ORFE = 1.23, 95%CI: 1.09-1.40). Four studies with sample sizes over 500 produced similar results.
Colchicine is commonly used in the treatment of Behçet’s disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behçet’s disease. We randomly selected 97 patients with Behçet’s disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine.
Glutathione S-transferases (GSTs) constitute a superfamily of ubiquitous multifunctional enzymes that are involved in the cellular detoxification of a large number of endogenous and exogenous chemical agents that have electrophilic functional groups. People who have deficiencies in this family of genes are at increased risk of developing some types of tumors. We examined GSTP1 Ile105Val polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples.
We employed RAPD and sequence-related amplified polymorphism (SRAP) markers to evaluate polymorphisms in 15 tomato (Solanum lycopersicon) genotypes that were obtained from a tomato breeding program. Four local tomato genotypes selected from the Sanliurfa province (Southeastern Anatolia Region of Turkey), 10 heat-tolerant tomato genotypes, received from the Asian Vegetable Research and Development Center, and a sample of S. pimpinellifolium were genotyped with RAPD and SRAP markers. Eleven SRAP primer combinations were used and 66 bands were scored.