ABSTRACT
SLC44A4 is one of the seven novel susceptibility genes that were discovered in the first ever genome-wide association study (GWAS) on ulcerative colitis (UC) in the genetically distinct north Indians. This gene seems to be functionally relevant to disease biology as it may contribute to the associated phenotype of Vitamin B1 deficiency among UC patients, hence playing a role in disease pathogenesis. A large number of single-nucleotide polymorphisms (SNPs) are known to be distributed throughout this gene, but the functional status of most are not known. Thus, an extensive investigation of structural and regulatory variants within this gene was undertaken in this study to identify the critical variants amongst them using a combination of fine mapping, in silico and in vitro approaches. A few intronic SNPs were predicted to have regulatory roles on the basis of in silico analysis, suggesting that they may be the critical variants within SLC44A4. This highlights the importance of this gene in UC biology, thus confirming the finding of the GWAS and also warranting additional studies.
Subject(s)
Colitis, Ulcerative/genetics , Genetic Predisposition to Disease , Membrane Transport Proteins/genetics , Polymorphism, Single Nucleotide , Thiamine/metabolism , Vitamin B Deficiency/genetics , Animals , CHO Cells , Colitis, Ulcerative/complications , Colitis, Ulcerative/ethnology , Colitis, Ulcerative/pathology , Cricetulus , Exons , Gene Expression , Genome-Wide Association Study , Humans , India , Introns , Membrane Transport Proteins/metabolism , Recombinant Proteins/genetics , Recombinant Proteins/metabolism , Transfection , Vitamin B Deficiency/complications , Vitamin B Deficiency/ethnology , Vitamin B Deficiency/pathologyABSTRACT
BACKGROUND AND OBJECTIVE: Vitamin D (vitD) is involved in the phosphor-calcium metabolism and bone pathology, but also in inflammatory and infectious processes such as tuberculosis. The present study evaluates the clinical and epidemiological aspects of active tuberculosis cases and latently infected contacts in whom plasma concentrations of vitD were obtained to determine whether the deficiency of vitD is a risk factor to develop active tuberculosis, especially the more severe forms. METHOD: Observational, retrospective study that included 86 tuberculosis patients and 80 contacts with latent infection in a 2-year period. RESULTS: When comparing active tuberculosis cases with latent infection contacts, deficiency of vitD (vitD levels <10 ng/mL, odds ratio [OR]: 2.02, 95% confidence interval [CI]: 1.04 to 3.93), male sex (OR: 1.9, 95% CI: 0.96 to 3.71) and non-white race (OR: 0.7, 95% CI: 0.34 to 1.42) were factors independently associated with the diagnosis of tuberculosis. CONCLUSION: Despite the limited number of subjects studied, there was a association between severe deficit of vitD and the presentation of tuberculosis.
Subject(s)
Tuberculosis/blood , Vitamin D/blood , Adult , Comorbidity , Disease Susceptibility , Ethnicity/statistics & numerical data , Female , Humans , Latent Tuberculosis/blood , Latent Tuberculosis/epidemiology , Latent Tuberculosis/ethnology , Male , Middle Aged , Racial Groups/statistics & numerical data , Retrospective Studies , Spain/epidemiology , Tuberculosis/epidemiology , Tuberculosis/ethnology , Vitamin B Deficiency/blood , Vitamin B Deficiency/epidemiology , Vitamin B Deficiency/ethnology , Young AdultABSTRACT
Canada began to fortify its flour and bread with vitamin B when it entered the Second World War. The decision was informed by the biology of vitamin B and therefore I suggest that the complexity of this political maneuver can best be understood by considering the specificity of the biochemistry of vitamin B. In this paper I will show that the specific biology of vitamin B allowed the Canadian government the possibility of a healthier population under wartime conditions but also allowed the government a variety of means by which to develop and organize food processing practices to this end.
Subject(s)
Food, Fortified , Government Programs , Population Groups , Public Health , Vitamin B Deficiency , Bread/economics , Bread/history , Canada/ethnology , Flour/economics , Flour/history , Food, Fortified/economics , Food, Fortified/history , Government Programs/economics , Government Programs/education , Government Programs/history , Government Programs/legislation & jurisprudence , History, 20th Century , Humans , Population Groups/education , Population Groups/ethnology , Population Groups/history , Population Groups/legislation & jurisprudence , Population Groups/psychology , Public Health/economics , Public Health/education , Public Health/history , Public Health/legislation & jurisprudence , Vitamin B Complex/history , Vitamin B Deficiency/ethnology , Vitamin B Deficiency/history , World War IIABSTRACT
Vitamin B-6 status was assessed by measuring erythrocyte glutamic-pyruvic transaminase (EGPT) indices in 122 pregnant Hispanic teenagers. Seventeen percent were vitamin B-6 deficient (EGPT indices greater than 1.25) at the initial interview (first or second trimester). A daily supplement of 5 mg vitamin B-6, beginning at initial interview, did not reduce prevalence of vitamin B-6 deficiency at final interview (third trimester). No association was found between EGPT indices greater than 1.25 and the outcome of pregnancy. The activity of diamine oxidase (DAO), a vitamin B-6-dependent enzyme produced by the placental decidua, was measured in maternal plasma. At initial and final interviews, plasma-DAO activity was increased by in vitro addition of pyridoxal-5'-phosphate. The activity in early pregnancy was positively associated with dietary vitamin B-6 intake and was lower in teenagers with EGPT indices greater than 1.25 at the final interview. Findings suggest that plasma-DAO activity is influenced by vitamin B-6 status.
