DNA typing of maternal HLA in congenital complete heart block

Comparison with systemic lupus erythematosus and primary Sjogren's syndrome

Gualtiero Colombo, Antonio Brucato, Elena Coluccio, Silvana Compasso, Cristina Luzzana, Franco Franceschini, Marzia Quinzanini, Raffaella Scorza

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Objective. To investigate which maternal HLA allele or haplotype is primarily associated with isolated congenital complete heart block (CCHB) in offspring. Methods. HLA class II typings were assessed by line probe assay and polymerase chain reaction-sequence-specific oligonucleotide probe methods, and HLA class I by the microlymphocytotoxicity test, in 13 Italian anti-Ro-positive mothers of children with CCHB and 41 anti-Ro-positive mothers with healthy children (20 mothers with systemic lupus erythematosus [SLE] and 21 with Sjogren's syndrome [SS]). Anti-Ro antibodies were studied by immunoblot. Results. HLA-DRB1*03011 and DRB1*03011; DQA1*0501;DQB1*0201 were more frequent in mothers of infants with CCHB than in mothers who had SLE, but not in mothers who had SS and whose children were healthy. Mothers of infants with CCHB were either HLA-B5/35, B17, or B44 positive and had a higher prevalence of B44;DRB11;DQA1*0501;DQB1*0301 and isolated anti-52-kd antibodies, which were absent in SS and SLE controls. Conclusion. Mothers of infants with CCHB presented a strong genetic similarity to mothers who had SS, except for HLA class I phenotype. HLADRB1*03011;DQA1*0501;DQB1*0201 seemed not to be primary CCHB-associated genes, but were involved in an SS-like anti-Ro/La response. The combined presence of HLA-DRB1*03011 and anti-52-kd SSA/Ro antibodies conveyed the highest risk of giving birth to an affected child.

Original languageEnglish
Pages (from-to)1757-1764
Number of pages8
JournalArthritis and Rheumatism
Volume42
Issue number8
DOIs
Publication statusPublished - Aug 1999

Fingerprint

DNA Fingerprinting
Sjogren's Syndrome
Systemic Lupus Erythematosus
Mothers
HLA-DRB1 Chains
Congenital heart block
Oligonucleotide Probes
Haplotypes
Anti-Idiotypic Antibodies
Alleles
Parturition
Phenotype
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Immunology
  • Rheumatology

Cite this

DNA typing of maternal HLA in congenital complete heart block : Comparison with systemic lupus erythematosus and primary Sjogren's syndrome. / Colombo, Gualtiero; Brucato, Antonio; Coluccio, Elena; Compasso, Silvana; Luzzana, Cristina; Franceschini, Franco; Quinzanini, Marzia; Scorza, Raffaella.

In: Arthritis and Rheumatism, Vol. 42, No. 8, 08.1999, p. 1757-1764.

Research output: Contribution to journalArticle

Colombo, Gualtiero ; Brucato, Antonio ; Coluccio, Elena ; Compasso, Silvana ; Luzzana, Cristina ; Franceschini, Franco ; Quinzanini, Marzia ; Scorza, Raffaella. / DNA typing of maternal HLA in congenital complete heart block : Comparison with systemic lupus erythematosus and primary Sjogren's syndrome. In: Arthritis and Rheumatism. 1999 ; Vol. 42, No. 8. pp. 1757-1764.
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abstract = "Objective. To investigate which maternal HLA allele or haplotype is primarily associated with isolated congenital complete heart block (CCHB) in offspring. Methods. HLA class II typings were assessed by line probe assay and polymerase chain reaction-sequence-specific oligonucleotide probe methods, and HLA class I by the microlymphocytotoxicity test, in 13 Italian anti-Ro-positive mothers of children with CCHB and 41 anti-Ro-positive mothers with healthy children (20 mothers with systemic lupus erythematosus [SLE] and 21 with Sjogren's syndrome [SS]). Anti-Ro antibodies were studied by immunoblot. Results. HLA-DRB1*03011 and DRB1*03011; DQA1*0501;DQB1*0201 were more frequent in mothers of infants with CCHB than in mothers who had SLE, but not in mothers who had SS and whose children were healthy. Mothers of infants with CCHB were either HLA-B5/35, B17, or B44 positive and had a higher prevalence of B44;DRB11;DQA1*0501;DQB1*0301 and isolated anti-52-kd antibodies, which were absent in SS and SLE controls. Conclusion. Mothers of infants with CCHB presented a strong genetic similarity to mothers who had SS, except for HLA class I phenotype. HLADRB1*03011;DQA1*0501;DQB1*0201 seemed not to be primary CCHB-associated genes, but were involved in an SS-like anti-Ro/La response. The combined presence of HLA-DRB1*03011 and anti-52-kd SSA/Ro antibodies conveyed the highest risk of giving birth to an affected child.",
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