دورية أكاديمية
Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity.
| العنوان: | Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity. |
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| المؤلفون: | Barton JC; Southern Iron Disorders Center, Birmingham, AL, USA; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: bartonjames336@gmail.com., Barton JC; Southern Iron Disorders Center, Birmingham, AL, USA. Electronic address: jbarton205@gmail.com., Cruz E; Institute for Molecular and Cell Biology (IBMC), i3S (Instituto de Investigação e Inovação em Saúde), Universidade do Porto, Porto, Portugal; Clinical Hematology, Santo António Hospital - Porto University Hospital Center (CHUP), Porto, Portugal. Electronic address: ecruz@ibmc.up.pt., Teles MJ; Clinical Pathology, S. João University Hospital Center, Porto, Portugal; EPI Unit, Institute of Public Health and Biomedicine (ISPUP), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal. Electronic address: maria.teles@chsj.mim-saude.pt., Guimarães JT; Clinical Pathology, S. João University Hospital Center, Porto, Portugal; EPI Unit, Institute of Public Health and Biomedicine (ISPUP), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal. Electronic address: jtguimar@med.up.pt., Porto G; Institute for Molecular and Cell Biology (IBMC), i3S (Instituto de Investigação e Inovação em Saúde), Universidade do Porto, Porto, Portugal; Clinical Hematology, Santo António Hospital - Porto University Hospital Center (CHUP), Porto, Portugal; Molecular Pathology and Immunology, Abel Salazar Institute for Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal. Electronic address: gporto@ibmc.up.pt. |
| المصدر: | Blood cells, molecules & diseases [Blood Cells Mol Dis] 2020 Nov; Vol. 85, pp. 102461. Date of Electronic Publication: 2020 Jun 27. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0961 (Electronic) Linking ISSN: 10799796 NLM ISO Abbreviation: Blood Cells Mol Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <1996-> : Orlando, FL : Academic Press Original Publication: La Jolla, Calif. : Blood Cells Foundation, 1995- |
| مواضيع طبية MeSH: | Polymorphism, Single Nucleotide*, Hemochromatosis/*genetics , Hemochromatosis Protein/*genetics , Immunoglobulin G/*analysis, Adult ; Chromosomes, Human, Pair 6 ; Female ; Hemochromatosis/blood ; Homozygote ; Humans ; Immunoglobulin G/genetics ; Male ; Middle Aged ; Pedigree ; Point Mutation ; Siblings |
| مستخلص: | Subnormal IgG1 or IgG3 levels occurred in 30% of hemochromatosis probands with HFE p.C282Y homozygosity and were concordant in HLA-identical siblings. We sought to identify factors associated with IgG subclasses in Alabama probands with p.C282Y homozygosity evaluated for 500 kb microhaplotypes AAT and GGG defined by SNPs in chromosome 6p genes PGBD1, ZNF193, and ZNF165. In regressions on IgG subclasses, we used: age; sex; GGG (dichotomous); iron removed to achieve depletion; CD8+ T-lymphocytes; and other IgG subclasses. Among 49 probands, AAT and GGG occurred in 95.9% and 16.3%, respectively. Thirteen probands (26.5%) had subnormal IgG1; 11 probands (22.4%) had subnormal IgG3. Mean IgG3 was higher in probands with than without GGG (75 mg/dL [95% confidence interval 63, 89] vs. 58 mg/dL [49, 71], respectively; p = 0.0321). Regression on IgG3 revealed: GGG positivity (p = 0.0106); and IgG1 (p = 0.0015). In a replication cohort of 22 Portugal probands with p.C282Y homozygosity, mean IgG3 was higher in probands with than without GGG (46 ± 16 vs. 31 ± 12 mg/dL, respectively; p = 0.0410). We conclude that mean IgG3 levels are higher in hemochromatosis probands with p.C282Y homozygosity with chromosome 6p microhaplotype GGG than in probands homozygous for microhaplotype AAT. (Copyright © 2020. Published by Elsevier Inc.) |
| فهرسة مساهمة: | Keywords: Chromosome 6p; HFE p.C282Y; IgG1; IgG3; SNP microhaplotype |
| المشرفين على المادة: | 0 (HFE protein, human) 0 (Hemochromatosis Protein) 0 (Immunoglobulin G) |
| تواريخ الأحداث: | Date Created: 20200706 Date Completed: 20210527 Latest Revision: 20210527 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.bcmd.2020.102461 |
| PMID: | 32623342 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1096-0961 |
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| DOI: | 10.1016/j.bcmd.2020.102461 |