{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T07:00:55Z","timestamp":1742799655402},"reference-count":30,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,11,3]],"date-time":"2008-11-03T00:00:00Z","timestamp":1225670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>The \u03b1\u2010galactosidase gene (<jats:italic>GLA<\/jats:italic>) has three single\u2010nucleotide polymorphisms in the 5\u2032 untranslated region of exon 1, respectively g.1150G&gt;A, g.1168G&gt;A, g.1170C&gt;T. The g.1150A allele is associated with increased plasma \u03b1\u2010galactosidase (\u03b1\u2010Gal) activity in hemizygotes, while the others are regarded as biologically neutral. The primary goal of this investigation was to test the hypothesis, raised by a clinical observation and results of a family study, that the g.1170T allele polymorphism is associated with lower \u03b1\u2010Gal expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods:<\/jats:title><jats:p>Plasma and leukocyte \u03b1\u2010Gal activities were assayed in unrelated healthy young adults of both sexes, who had been genotyped for <jats:italic>GLA<\/jats:italic> exon 1, and enzyme activity values in carriers of any of the polymorphisms were compared to those of individuals with the standard genotype; <jats:italic>GLA<\/jats:italic> exon 1 was genotyped in males who had \u03b1\u2010Gal activity in dried blood spots lower than 2 SD below the cohort average.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and conclusions:<\/jats:title><jats:p>Mean \u03b1\u2010Gal leukocyte activity was \u223c25% higher in subjects with the g.1170C or CC genotype than in those with the alternative genotypes (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). The frequency of the g.1170T allele in subjects with low \u03b1\u2010Gal activity in dried blood spots was 4\u2010fold higher (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) than in the general population. As in hemizygotes, the g.1150A heterozygote identified in this study had plasma \u03b1\u2010Gal activity more than 2\u2010fold above the normal mean. The g.1168A allele did not affect enzyme activity. Surprisingly, females with the standard <jats:italic>GLA<\/jats:italic> exon 1 genotype had significantly higher plasma \u03b1\u2010Gal activity than genetically comparable males.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-008-0818-9","type":"journal-article","created":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:57:34Z","timestamp":1225501054000},"page":"247-253","source":"Crossref","is-referenced-by-count":13,"title":["Effect of single\u2010nucleotide polymorphisms of the 5\u2032 untranslated region of the human \u03b1\u2010galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians"],"prefix":"10.1002","volume":"31","author":[{"given":"J. P.","family":"Oliveira","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Faculdade de Medicina Universidade do Porto Alameda Hern\u00e2ni Monteiro Porto 4200\u2010319 Portugal"}]},{"given":"S.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Faculdade de Medicina Universidade do Porto Alameda Hern\u00e2ni Monteiro Porto 4200\u2010319 Portugal"}]},{"given":"J.","family":"Barcel\u00f3","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Faculdade de Medicina Universidade do Porto Alameda Hern\u00e2ni Monteiro Porto 4200\u2010319 Portugal"}]},{"given":"P.","family":"Gaspar","sequence":"additional","affiliation":[{"name":"UNILIPE, Instituto de Biologia Molecular e Celular Universidade do Porto Rua do Campo Alegre 823 Porto 4150\u2010180 Portugal"}]},{"given":"F.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Faculdade de Medicina Universidade do Porto Alameda Hern\u00e2ni Monteiro Porto 4200\u2010319 Portugal"}]},{"given":"M. C.","family":"S\u00e1 Miranda","sequence":"additional","affiliation":[{"name":"UNILIPE, Instituto de Biologia Molecular e Celular Universidade do Porto Rua do Campo Alegre 823 Porto 4150\u2010180 Portugal"}]},{"given":"J.\u2010E.","family":"M\u00e5nsson","sequence":"additional","affiliation":[{"name":"Neurochemistry Laboratory Medicine, Clinical Chemistry Sahlgren's University Hospital Molndal SE\u2010431 80 Sweden"}]}],"member":"311","published-online":{"date-parts":[[2008,11,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90120-I"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197307052890103"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.658"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.GR-1460R"},{"key":"e_1_2_6_6_1","volume-title":"Epi Info\u2122, A Database and Statistics Program for Public Health Professionals","author":"Dean 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