HLA-A and -B Type and Haplotype Frequencies in IgG Subclass Deficiency Subgroups
Tóm tắt
We sought to determine whether HLA-A and -B type and haplotype frequencies differ between subgroups of adults with IgG subclass deficiency (IgGSD). We retrospectively compared type and haplotype frequencies of three subgroups of 269 unrelated adult IgGSD patients (70 subnormal IgG1; 121 subnormal IgG3; 78 subnormal IgG1/IgG3) and controls (1,321 for types; 751 for haplotypes). We selected types and haplotypes because their uncorrected frequencies differed significantly from controls in a previous adult IgGSD/common variable immunodeficiency cohort: A*24; B*14; B*35; B*40; B*49; B*50; B*58; B*62; A*01,B*08; A*02,B*44; A*02,B*60; A*03,B*07; A*03,B*14; A*03,B*44; A*31,B*40; and A*32,B*14. We used χ2 analysis (2 × 4 tables) to identify frequency differences across three subgroups and controls. If the null hypothesis was rejected (p < 0.05), we computed 2 × 2 χ2 tables to compare six combinations of subgroup and control frequencies [Bonferroni p < 0.0083 (< 0.05/6)]. Mean age was 48 ± 13 years; 82.2% were women. B*35 and B*40 frequencies were higher in subnormal IgG1 than subnormal IgG3 patients (0.1000 vs. 0.0248 and 0.0571 vs. 0.0083, respectively; p ≤ 0.0061). B*62 frequencies were lower in three IgGSD subgroups than controls (p < 0.0001, respectively). A*02, B*44 frequency was higher in subnormal IgG1/IgG3 patients than controls (0.1282 vs. 0.0632, respectively; p = 0.0024). A*02, B*60 frequency was lower in subnormal IgG3 patients than controls (0.0 vs. 0.0233, respectively; p = 0.0051). HLA-B*35 and -B*40 frequencies differ significantly between some IgGSD subgroups. B*62, A*02, B*44, and A*02, B*60 frequencies differ significantly between some IgGSD subgroups and controls.
Tài liệu tham khảo
Abrahamian F, Agrawal S, Gupta S (2010) Immunological and clinical profile of adult patients with selective immunoglobulin subclass deficiency: response to intravenous immunoglobulin therapy. Clin Exp Immunol 159:344–350
Acton RT, Harman L, Go RC et al (1993) Comparison of HLA phenotypes among African Americans from Alabama, Maryland, and North Carolina. Transplant Proc 25:2404–2407
Acton RT, Barton EH, Hollowell WW et al (2004) Ancestry reported by white adults with cutaneous melanoma and control subjects in central Alabama. BMC Cance 4:47
Barton JC, Harmon L, Rivers C et al (1996) Hemochromatosis: association of severity of iron overload with genetic markers. Blood Cells Mol Dis 22:195–204
Barton JC, Bertoli LF, Acton RT (2003a) Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. Blood Cells Mol Dis 31:102–111
Barton JC, Bertoli LF, Acton RT (2003b) HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama. BMC Med Genet 4:3
Barton EH, Barton JC, Hollowell WW et al (2004) Countries of ancestry reported by hemochromatosis probands and control subjects in central Alabama. Ethn Dis 14:73–81
Barton JC, Wiener HW, Acton RT et al (2005) HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis 34:38–47
Barton JC, Bertoli LF, Barton JC (2014) Comparisons of CVID and IgGSD: referring physicians, autoimmune conditions, pneumovax reactivity, immunoglobulin levels, blood lymphocyte subsets, and HLA-A and -B typing in 432 adult index patients. J Immunol Res 2014:542706
Barton JC, Barton JC, Bertoli LF (2017) Hypogammaglobulinemia E in 216 adults with IgG subclass deficiency and respiratory tract infections. Ann Allergy Asthma Immunol 119:292–294
Boucher K, Mori M, Milford E et al (1998) Estimation of HLA-A, -B, -DR haplotype frequencies in five racial groups represented in the NMDP donor file. In: Gjertson DW, Terasaki PI (eds) HLA 1998. American Society for Histocompatibility and Immunogenetics, Lenexa, pp 57–78
Bousfiha A, Jeddane L, Picard C et al (2018) The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 38:129–143
Castigli E, Wilson SA, Garibyan L et al (2005) TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 37:829–834
Finch T, Lawlor E, Borton M et al (1997) Distribution of HLA-A, B and DR genes and haplotypes in the Irish population. Exp Clin Immunogenet 14:250–263
Granada M, Wilk JB, Tuzova M et al (2012) A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study. J Allergy Clin Immunol 129:840–845.e21
Grubic Z, Maskalan M, Svilicic D et al (2016) Determination of HLA-A, -B, and -DRB1 allele and haplotype frequencies in the Croatian population based on a family study. Arch Immunol Ther Exp 64(Suppl 1):83–88
Lacombe C, Aucouturier P, Preud’homme JL (1997) Selective IgG1 deficiency. Clin Immunol Immunopathol 84:194–201
Mack SJ, Tu B, Lazaro A et al (2009) HLA-A, -B, -C, and -DRB1 allele and haplotype frequencies distinguish Eastern European Americans from the general European American population. Tissue Antigens 73:17–32
Middleton D, Williams F, Hamill MA et al (2000) Frequency of HLA-B alleles in a Caucasoid population determined by a two-stage PCR-SSOP typing strategy. Hum Immunol 61:1285–1297
Oxelius VA, Hanson LA, Björkander J et al (1986) IgG3 deficiency: common in obstructive lung disease. Hereditary in families with immunodeficiency and autoimmune disease. Monogr Allergy 20:106–115
Salzer U, Chapel HM, Webster AD et al (2005) Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 37:820–828
Sasazuki T, Tsuji K, Aizawa M (1992) HLA 1991: Proceedings of the Eleventh International Histocompatibility Workshop and Conference, held in Yokohama, Japan, 6–13 November, 1991. Oxford University Press, New York
Schipper RF, Schreuder GM, D’Amaro J et al (1996) HLA gene and haplotype frequencies in Dutch blood donors. Tissue Antigens 48:562–574
Schroeder HW Jr, Schroeder HW III, Sheikh SM (2004) The complex genetics of common variable immunodeficiency. J Investig Med 52:90–103
Song S, Han M, Zhang H et al (2013) Full screening and accurate subtyping of HLA-A*02 alleles through group-specific amplification and mono-allelic sequencing. Cell Mol Immunol 10:490–496
Vorechovsky I, Cullen M, Carrington M et al (2000) Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol 164:4408–4416
Waldrep ML, Zhuang Y, Schroeder HW Jr (2009) Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8. BMC Med Genet 10:100
World Medical Association (2013) Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA 310:2191–2194