The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome

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dc.authorscopusid6602834610
dc.authorscopusid6507566777
dc.authorscopusid6506765113
dc.authorscopusid36939250800
dc.authorscopusid6602378258
dc.contributor.authorDemirhan, Osman
dc.contributor.authorTastemir, Deniz
dc.contributor.authorGünesacar, Ramazan
dc.contributor.authorGüzel, Ali
dc.contributor.authorAlptekin, Davut
dc.date.accessioned2024-09-19T15:47:04Z
dc.date.available2024-09-19T15:47:04Z
dc.date.issued2011
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractBackground: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS. Materials and Methods: We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGCGAC) and 57 (GGAGAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus) and MboII (derivated from Moraxella bovis), respectively. Results: MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000). Conclusion : Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.en_US
dc.identifier.doi10.4103/0971-6866.86176
dc.identifier.endpage64en_US
dc.identifier.issn1998-362X
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-80155149594en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage59en_US
dc.identifier.urihttps://doi.org/10.4103/0971-6866.86176
dc.identifier.urihttps://hdl.handle.net/20.500.12483/14957
dc.identifier.volume17en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofIndian Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDown syndromeen_US
dc.subjectMannose-binding lectin gene 2 gene polymorphismsen_US
dc.subjectsingle-nucleotide polymorphismsen_US
dc.titleThe first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndromeen_US
dc.typeArticleen_US

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