Statistics from Altmetric.com
Congenital heart block (CHB) may develop in the fetus of Ro/SSA autoantibody-positive women. A population-based recurrence rate of only 12% however suggests that factors other than maternal autoantibodies influence the risk of developing CHB.1 In the present study, we aimed to identify genetic contribution to the disease by analysing HLA associations in European families with a Ro/SSA antibody-positive mother and at least one child affected by CHB.
HLA allele genotypes were imputed for 173 families comprising 635 individuals (291 parents, 173 cases and 167 unaffected siblings) from Sweden, Norway, Finland and Italy (online supplementary table 1) based on 5636 tag SNPs. Parental HLA allele transmission frequencies to patients with CHB were assessed and OR and significance of the association with CHB calculated. We considered nominal P values <0.05 suggestive of significance, and P values below the threshold of Bonferroni correction for multiple testing, or if the association had been previously reported at P<0.05, significant. Detailed information on patients and methods are available online (online supplementary methods).
Supplementary file 1
Supplementary file 2
In the MHC class I gene locus, we replicated the previously identified2 protective association of HLA-Cw*06 (OR 0.22 (0.07–0.67), P=0.003) …
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.