title: Homocysteine screening of a female Hispanic population.
abstract: A total of 821 women of Hispanic descent aged 21-65 years, were screened for total and high density lipoprotein (HDL) cholesterol through outpatient clinics and public screening. Of this group, 78 were invited back for further testing because they had a total cholesterol/HDL cholesterol ratio exceeding 4.5 indicative of high risk for cardiovascular disease. Written consent and a fasting blood sample was obtained from these women, and tested for serum homocysteine. The concentrations for 77 of the 78 women (mean 8. 40+/-2.24, range 4.21-13.99 micromol/l) were within the pre-established normal range for women. One subject had an exceptionally high homocysteine concentration of 137 micromol/l. This subject subsequently developed a stroke and has been institutionalized since that time. Blood from the subject and immediate family members were tested for the 5'-10'-methylenetetrahydrofolate reductase (MTHFR) polymorphism. The subject and her children were both hyperhomocysteinemic and heterozygous for the mutation. One of the children also had a low vitamin B12 concentration in blood. Although the high homocysteine and cardiovascular risk in these subjects were likely due to a dietary deficiency of the vitamins, the MTHFR mutation may have also been a contributing factor. With the availability of rapid assays, screening blood for homocysteine in subjects deemed at high risk for cardiovascular disease may be justified.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT 06102, USA.
authors.forename: A H
authors.initials: AH
authors.lastname: Wu
authors.forename: V
authors.initials: V
authors.lastname: Holtman
authors.forename: G J
authors.initials: GJ
authors.lastname: Tsongalis
authors.forename: J
authors.initials: J
authors.lastname: Macer
mesh_terms: D000328:Adult; D000368:Aged; D002318:Cardiovascular Diseases / Q000097:blood / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood; D003237:Connecticut; D005260:Female; D005820:Genetic Testing; D006630:Hispanic or Latino; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D008076:Cholesterol, HDL; D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)