title: Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.
abstract: Mannose-binding protein (MBP) is a serum lectin that participates in the innate immune response. MBP deficiency may constitute a risk factor in the development of infections. Three MBP structural variants have been identified with a dominant effect on MBP serum concentration. Similarly, polymorphisms in the promoter of the corresponding gene (HSMBP1B) have been related to variations of MBP concentration in serum. Children with sickle cell disease (SCD) have an increased susceptibility to infections with encapsulated organisms resulting in meningitis, septicaemia, and osteomyelitis. We have investigated the HSMBP1B genotype in 242 children with SCD living in Paris. Apart from the known variant alleles, we identified three novel ones and report their distribution in our sample population. In addition, we found rather unexpectedly an increased frequency of the variant alleles in patients who had not suffered severe infections.
authors.affiliation: INSERM U458, Hôpital Robert Debré, Paris, France.
authors.forename: M G
authors.initials: MG
authors.lastname: Neonato
authors.forename: C Y
authors.initials: CY
authors.lastname: Lu
authors.forename: M
authors.initials: M
authors.lastname: Guilloud-Bataille
authors.forename: C
authors.initials: C
authors.lastname: Lapouméroulie
authors.forename: H
authors.initials: H
authors.lastname: Nabeel-Jassim
authors.forename: D
authors.initials: D
authors.lastname: Dabit
authors.forename: R
authors.initials: R
authors.lastname: Girot
authors.forename: R
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: C
authors.initials: C
authors.lastname: Besmond
authors.forename: J
authors.initials: J
authors.lastname: Elion
mesh_terms: D000293:Adolescent; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10; D037222:Collectins; D005091:Exons; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic
chemical_list: D002352:Carrier Proteins; D037222:Collectins