Assessment of MTR Rs1805087 SNP as Possible Modifier ofSickle Cell Disease Severity in a Nigerian Population

BACKGROUND: Sickle cell disease is the commonest geneticdisorder in Nigeria, affecting 2­3% of an estimated population of 160million people. The role of genetic mutations in folate cycle genes,and the variable phenotypic expressions constituting disease severity,needs to be critically examined.OBJECTIVE: This study was carried out to establish the pattern ofmethionine synthase gene mutations (rs1805087 SNP), and its possibleassociation with disease severity in adults with sickle cell anaemia inLagos, Nigeria.METHODOLOGY: This is a cross-sectional study of seventy (70)subjects with sickle cell disease (HbSS) matched for age and genderwith known apparently healthy haemoglobin genotype AA (HbAA)subjects, as cases and controls respectively. Structured questionnaireswere used to obtain demographic, clinical and other phenotypic dataneeded to compute disease severity. Pattern of MTR A2756G genemutation and homocysteine assay (Hcy) were assessed by PolymeraseCh ain Reaction and Enzyme- linked Immun osorbent Assayrespectively. Full blood count analysis of participants was done usingthe KX-21 Automated Analyzer (Sysmex Corporation, Japan).RESULTS: The mutant genotypes MTR 2756 AG/GG were recordedin 46.4% (n =55) of subjects with disease severity score >7. Elevatedplasma homocysteine (HHcy) was significantly associated withdisease severity among HbSS subjects (OR=17.2, CI: 3.490-86.079;p=0.0001). Conversely, no significant association was observed withthe mutant genotypes MTR 2756 AG/GG and disease severity(p>0.05).CONCLUSION: While HHcy is significantly associated withphenotypic expression of HbSS, the MTR 2756 SNPs did not appearto independently influence homocysteine level or disease severity inHbSS subjects

Prevalence of hyperhomocysteinemia and hypovitaminosis B12 among acute ischemic stroke patients

Background: Deficiency of Vitamin B12 can lead to hyperhomocysteinemia. Hyperhomocysteinemia constitutes an abnormally high level of homocysteine in the serum, above the upper limit of normal for an environment. The two conditions are significant risk factors for the development of stroke. There is a paucity of data on the prevalence of these biochemical risk factors in stroke patients in our environment which brought about this study. Objective: The objective of the study was to determine how prevalent hyperhomocysteinemia and hypovitaminosis B12 are in acute ischemic stroke patients in Zaria. Materials and Mthods: This is a cross­sectional prospective study conducted from February 2014 to March 2015 in ABUTH Zaria. One hundred patients with clinical diagnosis of first­ever ischemic stroke confirmed by brain computed tomography scan, and another apparently healthy age­ and sex­matched one hundred controls were recruited. Their fasting serum homocysteine and Vitamin B12 were determined using the enzyme­linked immunosorbent assay technique. Prevalence of high homocysteine and low Vitamin B12 was determined.Results: Thirty­four percent (34%) of patients had high and 66% patients had normal serum homocysteine, whereas 81% of patients had low and 19% of patients had normal serum Vitamin B12, and the difference was found to be statistically significant (P < 0.05).There was significant negative correlation between serum homocysteine and Vitamin B12 among cases with P = 0.04 and r = −0.198.Conclusion: The Prevalence rates of hyperhomocysteinemia and hypovitaminosis B12 among ischemic stroke pateints were 34% and 81%, respectively

Interet du dosage de l'homocysteine; de la vitamine B12 et de l'acide folique au cours des maladies cardiovasculaires en Cote d'Ivoire

Objectif : cette etude avait pour objectif d'apprecier les variations des concentrations seriques de l'homocysteine; de la vitamine B12 et de l'acide folique au cours des maladies cardiovasculaires en Cote d'Ivoire. Methodes : il s'agissait d'une etude transversale realisee chez 122 sujets des deux sexes; ages de plus de 18 ans; repartis en deux groupes. Un groupe de 30 sujets apparemment sains et un groupe de 92 patients atteints de maladies cardiovasculaires. Ce dernier groupe se composait comme suit : 30 patients atteints d'hypertension arterielle (HTA); 30 patients atteints d'accident vasculaire cerebral (AVC); 19 patients atteints d'infarctus du myocarde (IDM) et 13 patients atteints de thrombose veineuse peripherique (TVP). Des echantillons de sang ont ete preleves chez les sujets a jeun depuis la veille au soir (12 heures). Les plasmas obtenus apres traitement ont ete separes en aliquotes qui ont servi au dosage de l'homocysteine; de la vitamine B12 et de l'acide folique. Resultats : Au terme de notre etude; nous avons constate que : - la difference entre la proportion de patients atteints d'AVC ayant une hyperhomocysteinemie et celle des sujets sains ayant une hyperhomocysteinemie etait statistiquement significativement avec p=0;0409; - la difference entre la proportion de patients atteints d'IDM ayant une hyperhomocysteinemie et celle des sujets sains ayant une hyperhomocysteinemie etait statistiquement significativement avec p=0;0205; - 52;63 des sujets de l'etude ayant une hyperhomocysteinemie presentaient une carence en acide folique ;- le risque relatif des MCV etait superieur a 2. Conclusion : Cette etude montre que l'hyperhomocysteinemie observee chez les patients atteints de MCV en Cote d'Ivoire est due dans 52;63 des cas a une carence nutritionnelle; notamment en acide folique. Le dosage plasmatique de l'acide folique et de l'homocysteine chez les patients atteints de MCV en particulier et chez l'Ivoirienne en general pourrait aider a la prevention des MCV et reduire les recidives