Yet another risk factor appears

Abstract

Deficiency of mannose binding lectin is associated with worse neurodevelopmental outcomes after congenital heart surgery through an unknown mechanism, with exaggerated effect in the youngest patients.

Failure to validate association of mannose-binding lectin deficiency with adverse neurodevelopmental outcomes after cardiac surgery in infants

“…In addition, these results may reflect differential effects of MBL deficiency at varying stages of neurodevelopment. 4 Alternatively, this MBL2 variant may reflect the effects of another, closely correlated, causal variant in this region. Regardless of the underlying reason for our lack of validation, further investigation is needed into the molecular mechanism of effect for MBL deficiency on neurodevelopment the better to understand and prevent sequelae of cardiac surgery in infancy.…”

Back to the drawing board

“…In addition to adequate statistical power and sound epidemiologic design aimed at minimizing biases, suggested criteria for successful replication studies include (1) same genetic variant, (2) same direction of association, (3) same definition of the phenotype, and (4) same ethnic group as reported in the discovery study. 4 An important factor contributing to single-digit replication rates is the low ratio of false-positive to false-negative findings inherent to genome-wide and other large-scale genetic studies. 5 Some warn that with more frequent high-resolution genotyping, the number of potentially relevant genetic markers will increase exponentially, making the same genetic-variant component of the replication requirement not only unfeasible but also meaningless.…”