WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • Warfarin is an oral anticoagulant widely used for thromboembolic disease prophylaxis. The pharmacokinetics and pharmacodynamics of this drug vary with environmental genetic factors. Several algorithms including non‐genetic factors have been developed different populations. These investigations shown that polymorphisms in CYP2C9 VKORC1 genes are related to warfarin dose variation. STUDY ADDS This study confirms the main predictors dose, but there...

Abstract Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved this pathway has been implicated as an etiologic factor Down syndrome (DS). This case–control study aimed evaluate the effect of maternal C677T and A1298C methylenetetrahydrofolate reductase (MTHFR) risk factors for development DS congenital heart defects (CHD). The distribution these genotypic variants was similar between mothers children with (n = 239) control normal 197), but combined genotypes 677CT...

Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic environmental factors. Abnormalities in homocysteine metabolism may play a role its etiology polymorphisms genes involved this pathway. Because of the involvement MTHFR, MTR MTRR with folate evidence that maternal use folic acid early pregnancy reduces risk for CL/P, we evaluated influence their on CL/P through case-control study. The analyses 114 non-syndromic phenotypically white children clefts (case) 110...

Our mutagenesis group has been studying with important economic drivers of our state, such as agriculture, the footwear and leather industry open-cast coal mining. Working conditions in these sectors have potentially harmful to humans. The aim studies is determine health risk workers by biomonitoring subjects exposed genotoxic agents. main results vineyard farmers we observed a high rate MN DNA damage individuals pesticides (p < 0.001). In addition, some effects genetic polymorphisms...

This study aimed to investigate the role of maternal polymorphisms, as well their risk genotypes combinations MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, possible factors for Down syndrome (DS) Southern Brazil. A case-control was conducted with 239~mothers DS children 197~control mothers. The investigation polymorphisms performed by PCR PCR-RFLP. distribution genotypic variants similar both groups when they were analyzed separately. An...

This study aimed to investigate the role of maternal polymorphisms, as well their risk genotypes combinations MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, possible factors for Down syndrome (DS) Southern Brazil. A case-control was conducted with 239~mothers DS children 197 control mothers. The investigation polymorphisms performed by PCR PCR-RFLP. distribution genotypic variants similar both groups when they were analyzed separately. An...

A total of 107 unrelated severe haemophilia patients living in the southern Brazilian state Rio Grande do Sul were studied relation to prevalence inversions present introns 22 and 1 a subsample them (95) tested for presence Factor VIII inhibitors. These data then incorporated with those from 15 other countries 3871 patients. The frequencies these two show remarkable homogeneity series collected different continents, people diverse ethnic extraction. inhibitors among inversion 22, on hand,...

The 1858T allele of the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene has been associated to diabetes in different populations. We investigated a possible relationship between this polymorphism and type 1 cohort Brazilian patients. A significantly higher frequency was observed diabetic patients (n = 211) than control individuals 241). Additionally, heterozygote genotype also increased group. No association PTPN22 T gender, or carriers age onset T1D. This work describes for first...

Citation Vianna P, da Silva GK, dos Santos BP, Bauer ME, Dalmáz CA, Bandinelli E, Chies JAB. Association between Mannose‐Binding Lectin gene polymorphisms and pre‐eclampsia in Brazilian Women. Am J Reprod Immunol 2010 Problem Mannose‐binding lectin (MBL) is involved the maintenance of an inflammatory environment uterus. High MBL levels have been associated with successful pregnancies whereas low are (PE) development. Here, we evaluated MBL2 structural promoter regions addressing their...

Background: Genetic damage may occur spontaneously under normal metabolic circumstances, inadequate intake of nutrients, and excessive exposure to environmental mutagens. Objectives: To evaluate the influence micronutrients vitamin B12, B6, folate polymorphism methylenetetrahydrofolate reductase (MTHFR) C677T on induction DNA in tobacco farmers. Methods: The study involved 66 men 44 women engaged cultivation region Venâncio Aires (Rio Grande do Sul state, Brazil). Peripheral blood samples...

Abstract Phenprocoumon is widely used in prophylaxis and treatment of thromboembolic disorders. However, its pharmacokinetics pharmacodynamics vary according to several genetic non‐genetic factors. metabolism mediated by CYP 2 C 9 3 A enzymes. Moreover, VKORC 1 phenprocoumon target action. Therefore, the aim this study was evaluate association single nucleotide polymorphisms ( SNP s) 1, 9, 4 5 genes with variance weekly dose as well develop an algorithm for prediction based on environmental...

Summary A total of 76 unrelated male patients with mild ( n = 55) or moderate 21) haemophilia living in the southern Brazilian state Rio Grande do Sul were studied by direct sequencing all F8 26 exons, 5′ UTR and 3′ , intron–exon junctions promoter region. When no mutation was found, a multiplex ligation‐dependent probe amplification analysis performed. We identified disease‐causing mutations 69 patients, who showed 33 different mutations: 27 missense, one small deletion, two duplications...

Individuals of O blood group have significantly lower plasma levels either Factor VIII (FVIII) or the von Willebrand factor (vWF). Conversely, there is accumulating evidence that elevated FVIII—vWF may represent an important risk for ischemic heart and venous thromboembolic disease. In this study, individuals exercised 20 minutes at 10% below first ventilatory threshold (aerobic threshold), which corresponds to 48% maximum oxygen uptake. People with non-O show higher resting postexercise vWF...

To determine the frequency of protein C, S and antithrombin deficiency, factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate reductase C677T mutations in children adolescents with portal vein thrombosis, as well assessing hereditary character this disorders.A two-year study was carried out to thrombophilic disorders thrombosis (n = 14), their parents 24), two control groups, one age-matched free liver disease 28) another group cirrhosis 24). The patients were investigated by...

Factor IX (encoded by F9) is a protein in the coagulation process, where its lack or deficiency leads to hemophilia B. This condition has been much less studied than A, especially Latin America. We analyzed structural and functional impact of 54 missense mutations (18 reported us previously, 36 other from database) through molecular modeling approaches. To accomplish this task, we examine electrostatic patterns, hydrophobicity/hydrophilicity, disulfide, H-bond differences structures...

Haemophilia A is an X-linked bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity, determined heterogeneous mutations in the F8 gene. Identification of these pathogenic important for genetic counseling and assessment clinical manifestations. Although more than 700 gene have been reported as responsible severe haemophilia (FVIII: C<1%), corresponding data currently insufficient southern Brazilian populations, world reviews concerning changes are scarce....

Phenprocoumon is an anticoagulant used for thromboembolic disorder prophylaxis metabolized mainly by CYP3A4. However, polymorphisms in this gene did not explain the observed variability. PPARA (peroxisome proliferator-activated receptor-α) a nuclear receptor that, among others, influences CYP3A4 expression. The aim of study was to determine whether and CYP3A4*22 allele are associated with phenprocoumon dose A total 198 patients on stable were included study. Genotyping performed...