RESUMEN
OBJECTIVE: Neonatal lupus erythematosus (NLE) is a passively acquired autoimmune disease of infants born to anti-Ro and/or La autoantibody positive mothers. Genetics may impact NLE risk. We analyzed the genetics of infants and anti-Ro antibody positive mothers, with NLE and NLE specific manifestations. METHODS: Infants and mothers from a tertiary care clinic underwent genotyping on the Global Screening Array. We created additive non-HLA and HLA polygenic risk scores (PRSs) for systemic lupus erythematosus (SLE), from one of the largest genome wide association studies. Outcomes were any NLE manifestations, cardiac NLE, and cutaneous NLE. We tested the association between SLE-PRSs in the infant, mother, and the PRS difference between the mother and infant with NLE outcomes, in logistic regression and generalized linear mixed models (Bonferroni P<0.02). We also performed HLA-wide analyses for the outcomes (P<5.00x10-8). RESULTS: The study included 332 infants, 270 anti-Ro antibody positive mothers, and 253 mother-infant pairs. A large proportion of mothers (40.3%) and infants (41.3%) were European, and 50.0% of infants were female. More than half of the infants had NLE (53.0%), including 7.2% with cardiac NLE and 11.7% with cutaneous NLE. We did not identify significant associations between infant, maternal, or maternal-infant PRSs and any NLE outcomes. HLA-wide analyses did not identify NLE risk alleles. CONCLUSION: In a multiethnic cohort of infants and anti-Ro antibody positive mothers, we did not identify a significant association between SLE genetics and risk of NLE outcomes.
