IMPACT OF MANNOSE-BINDING PROTEIN GENE POLYMORPHISMS IN OMANI SICKLE CELL DISEASE PATIENTS
| Autor: | Zachariah, Mathew, Al Zadjali, Shoaib, Bashir, Wafa, Al Ambusaidi, Rahma, Misquith, Rhea, Wali, Yasser, Pathare, Anil |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
business.industry lcsh:RC633-647.5 Haplotype Promoter Hematology lcsh:Diseases of the blood and blood-forming organs Gene mutation 03 medical and health sciences Exon 030104 developmental biology Infectious Diseases Immunology Genotype Medicine Original Article Allele business Mannose-binding lectin polymorphism promoter Sickle cell disease MBL2 MBP Gene Mannan-binding lectin |
| Zdroj: | Mediterranean Journal of Hematology and Infectious Diseases, Vol 8, Iss 0, Pp e2016013-e2016013 (2016) Mediterranean Journal of Hematology and Infectious Diseases |
| ISSN: | 2035-3006 |
| Popis: | Objectives Our aim was to study mannose-binding protein (MBP) polymorphisms in exonic and promoter region and correlate it with associated infections and vasoocculsive (VOC) episodes in sickle cell disease (SCD) patients since MBP plays an important role in innate immunity by activating the complement system. Methods We studied the genetic polymorphisms in the Exon 1 (alleles A/O) and promoter region (alleles Y/X; H/L, P/Q) of the MBL2 gene, in SCD patients as an increased incidence of infections is seen in these patients. A PCR-based, targeted genomic DNA sequencing of MBL2 was used to study 68 SCD Omani patients and 44 controls (healthy voluntary blood donors). Results In SCD patients, the frequency of the genotype related to the high production of MBL was 0.35 (YA/YA) and for intermediate/low production was 0.65 (YA/XA, XA/XA, YA/YO, XA/YO, YO/YO). The observed frequencies of MBL2 gene promoter polymorphism (-221, Y/X) were 44.4% and 20.5% for the heterozygous genotype Y/X and 3.2% and 2.2% for the homozygous (X/X) respectively between SCD patients and controls. MBL2 Exon1 gene mutations were 29.4% and 50% for the heterozygous genotype A/O and 5.9% and 6.8% respectively for the homozygous (O/O) genotype between SCD patients and controls. The distribution of variant MBL2 gene polymorphisms did not show any correlation in SCD patients with or without VOC attacks (p=0.16; OR −0.486; CI=0.177 −1.33), however, it was correlated with infections (p=0.0162; OR −3.55; CI 1.25–10.04). Conclusions Although the frequency of the genotypes and haplotypes of MBL2 in SCD patients did not differ from controls, overall in the SCD patient cohort the increased representation of variant alleles was significantly correlated with infections (p |
| Databáze: | OpenAIRE |
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