Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth

Abstract

Purpose: Human mannose-binding lectin, encoded by the MBL2 gene, is an important component of innate immunity and an important regulator of inflammatory processes. MBL2 gene polymorphisms are associated with an increased risk of neonatal infections and some data suggest a relation between the maternal MBL2 genotype and the risk of premature delivery. In this study, we evaluated whether there is an association between the fetal MBL2 genotype and prematurity. Methods: A microarray-based on-chip PCR method was used to simultaneously detect five common MBL2 polymorphisms (codon 52, 54, 57; promoter -550, -221) in 204 DNA samples isolated from archival blood cards. MBL2 genotypes of infants born before the 36 th week of pregnancy (N ϭ 102) were compared to a control group of infants born at term after the 37 th week (N ϭ 102). Results: The frequency of the codon 52 polymorphism was significantly higher in the pre-term group compared to the term group (10.8% versus 4.9%, P ϭ 0.04), while the frequency of the codon 54 polymorphism was equal in both groups (11.3% versus 11.8%). Interestingly, carriers of genotypes (O/O) likely conferring deficient MBL plasma levels were more common in the group of premature birth (9.8% versus 2.9%, P ϭ 0.05), while the promoter -550 C/C genotype was underrepresented in the pre-term birth group (24.5% versus 39.2%, P ϭ 0.03). Conclusion: Our data add to the knowledge about genetic predisposition to prematurity and suggest that the fetal MBL2 genotype might be an additional genetic factor contributing to the risk of premature delivery. Genet Med 2006:8(8):518-524.

Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

“…Residual dried blood spot samples remaining after newborn screening constitute an important resource for health professionals, scientists, and epidemiologists (17 ). Data on metabolite long-term stability would be valuable for retrospective diagnosis of inborn errors of metabolism to aid in genetic counseling of affected families (5 ).…”

A study of collectin genes in spontaneous preterm birth reveals an association with a common surfactant protein D gene polymorphism

“…However, in our study, the polymorphisms of SFTPA1 and SFTPA2 did not show any association with SPTB. In the case of the MBL2 gene, our study finding of an absence of association was unexpected, because the association of distinct MBL2 polymorphisms and haplotypes with preterm birth has been previously demonstrated (26)(27)(28)(29). However, the earlier studies were performed in different populations and there are inconsistencies in phenotype definitions of preterm birth.…”

Evaluation of lectin pathway activity and mannan-binding lectin levels in the course of pregnancy complicated by diabetes type 1, based on the genetic background

“…Indeed, these data add to the ever-increasing number of contexts in which high MBL seems to be harmful (Berger et al 2007;Bilgin et al 2008;Fiane et al 2003;Hansen et al 2006;Hellemann et al 2007;Kilpatrick 2007;Schlapbach et al 2007). On the other hand, there are numerous reports showing an association between MBL deficiency in mothers or babies with prematurity or prenatal/perinatal infections (Annells et al 2004;De Benedetti et al 2007;Bodamer et al 2006;Frakking et al 2007).…”