BACKGROUND The T allele of the hepatic lipase (HL) C-514T polymorphism was previously found to be associated with lower plasma HL activity. Here, we examined the association between this polymorphism and plasma HDL-cholesterol concentrations in patients with coronary arteries stenosis. METHODS We studied 342 subjects undergoing coronary angiography in two groups of non CAD (n=146) and CAD (n=...

Transmission ratio distortion (TRD), the preferential inheritance of the t haplotype from t/+ males, is caused by the cooperative effect of four t-complex distorters (Tcd1-4) and the single t-complex responder (Tcr) on sperm motility. Here we show that Fgd2, encoding a Rho guanine nucleotide exchange factor, maps to the Tcd2 region. The t allele of Fgd2 is overexpressed in testis compared with ...

Cytokines play an essential role during active tuberculosis disease and cytokine genes have been described in association with altered cytokine levels. Therefore, the aim of this study was to verify if IFNG, IL12B, TNF, IL17A, IL10, and TGFB1 gene polymorphisms influence the immune response of Brazilian patients with pulmonary tuberculosis (PTB) at different time points of antituberculosis trea...

The distribution of the Taq 1 polymorphism in the vitamin D receptor (VDR) gene and the MSc 1 polymorphism in the collagen 1 alpha 1 (COL1A1) gene were studied in 266 female and 55 male patients attending an osteoporosis clinic. Allele frequency in control (T- or Z-score >-1.0) and osteoporotic (T- or Z-scores <-2.5) groups were compared using Chi squared tests. No differences were found betwee...

Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...

PURPOSE The present study aimed to investigate the potential association between the urokinase plasminogen activation (uPA) system polymorphisms (rs4065, rs2227564, and rs344781) and cancer risk. METHODS An extensive search was performed to identify published case-control studies on the association between the uPA system polymorphisms and cancer risk. Odds ratios (ORs) with 95% confidence int...

background: human leukocyte antigen-g (hla-g) is a non-classical class i molecule highly expressed by extravillous cytotrophoblast cells. due to a single base pair deletion, its function can be compensated by other isoforms. investigating the frequency of null allele in recurrent miscarriage (rm) subjects could be useful in understanding the relationship between frequency of this allele and rm ...

OBJECTIVE To investigate the association between self-reported endometriosis and the putative functional promoter +331C/T single nucleotide polymorphism and the PROGINS allele. DESIGN Control subjects from ovarian cancer case-control studies participating in the international Ovarian Cancer Association Consortium. The majority of controls are drawn from population-based studies. SETTING An ...

BACKGROUND Transforming growth factor-β1 (TGF-β1) has a critical role in breast cancer initiation and progression. OBJECTIVES We have investigated the possible differences in two promoter polymorphisms (-509C/T and -800G/A) of TGF-β1 gene between breast cancer cases and controls. PATIENTS AND METHODS A total of 100 patients with confirmed breast cancer and 100 subjects without breast cancer...

Metformin is a classical oral antidiabetic drug, often recommended to be the first-choice treatment of type 2 diabetes mellitus (T2DM). Based on the previous research on STK11 and diabetes, we aimed to investigate the distributive characteristic of STK11 rs2075604 polymorphism and the potential influence of STK11 rs2075604 polymorphism on metformin efficacy among Chinese T2DM patients. There wa...