MBL2
Gene name: mannose-binding lectin (protein C) 2, soluble
OMIM ID: 154545 Chromosome location: 10q21.1
Polymorphisms
| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000242.2 |
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| DNA Change | c.161G>A |
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| A.A. Change | p.Gly54Asp |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Reference SNP | rs1800450 |
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| Cases | 104 patients with VL |
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| Controls | 93 asymptomatic |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Gly | 0.812 | 0.86 | 1 | | | Asp | 0.188 | 0.14 | 1.42 (0.827-2.44) | 0.2027 | | Gly/Gly | 71(68.27%) | 70 (75.27%) | 1 | | | Gly/Asp | 27 (25.96%) | 20 (21.5%) | 1.331 (0.684-2.590) | 0.399 | | Asp/Asp | 6 (5.77%) | 3(3.23%) | 1.972 [0.474-8.196] | 0.3429 | | Gly/Asp+Asp/Asp | 33(31.73%) | 23(24.73%) | 1.415 (0.756-2.647) | 0.27689 |
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| Comments | No significant association between MBL2-Gly54Asp polymorphism and infection with Leishmania infantum. |
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| Reference | Hamdi S, Ejghal R, Idrissi M, Ezzikouri S, Hida M, Soong L, Amarouch H, Lemrani M.A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco.
Infect Genet Evol. 2012 Sep 17. pii: S1567-1348(12)00293-6. |
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| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000242.2 |
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| DNA Change | c.170G>A |
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| A.A. Change | p.Gly57Glu |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Reference SNP | rs1800451 |
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| Cases | 104 patients with VL |
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| Controls | 93 asymptomatic |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Gly | 0.918 | 0.892 | 1 | | | Glu | 0.082 | 0.108 | 0.739 (0.375-1.457) | 0.38086 | | Gly/Gly | 88 (84.62%) | 77 (82.79%) | 1 | | | Gly/Glu | 15(14.42%) | 12(12.9%) | 1.094 [0.482-2.479] | 0.83003 | | Glu/Glu | 1(0.96%) | 4(4.3%) | 0.219 (0.024-1.999) | 0.14149 | | Gly/Glu+Glu/Glu | 16(15.38%) | 16(17.2%) | 0.875 (0.410-1.866) | 0.72959 |
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| Comments | No significant association between MBL2-Gly57Glu polymorphism and infection with Leishmania infantum. |
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| Reference | Hamdi S, Ejghal R, Idrissi M, Ezzikouri S, Hida M, Soong L, Amarouch H, Lemrani M.A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco.
Infect Genet Evol. 2012 Sep 17. pii: S1567-1348(12)00293-6. |
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| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000242.2 |
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| DNA Change | c.-290C>G |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs7096206 |
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| Cases | 112 patients with VL |
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| Controls | 42 asymptomatic |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 0.692 | 0.577 | 1 | | | C | 0.308 | 0.423 | 0.608 (0.407-0.909) | 0.01496 | | GG | 58 (51.79%) | 26(26.8%) | 1 | | | GC | 39 (34.32%) | 60(61.85%) | 0.291 (0.158-0.538) | 0.00006 | | CC | 15 (13.39%) | 11(11.34%) | 0.611 (0.247-1.511) | 0.2842 | | GC+CC | 54(48.21%) | 71(73.19%) | 0.341 (0.190-0.610) | 0.00024 |
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| Comments | The promoter polymorphism was found to be associated with protection against Leishmania infantum. |
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| Reference | Hamdi S, Ejghal R, Idrissi M, Ezzikouri S, Hida M, Soong L, Amarouch H, Lemrani M.A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco.
Infect Genet Evol. 2012 Sep 17. pii: S1567-1348(12)00293-6. |
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