SLC11A1
Gene name: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
OMIM ID: 600266 Chromosome location: 2q35
Polymorphisms
| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000578.3 |
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| DNA Change | c.-443_-442insGT (GT repeat) |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | repeat |
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| Reference SNP | rs34448891 |
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| Cases | 106 children who developed visceral leishmaniasis |
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| Controls | 97 asymptomatic subjects |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| 288/288 | 24.53% | 25.00% | 1 | | | 286/286 | 14.15% | 4.17% | 0.286 | 0.144 | | 286/288 | 31.13% | 38.54% | 1.258 (0.608-2.605) | 2.144 | | 286/290 | 1.89% | 6.25% | 3.000 (0.552-16.317) | 0.712 | | 288/290 | 10.38% | 19.79% | 2.000 (0.781-5.120) | 0.572 | | 290/290 | 17.92% | 6.25% | 0.333 (0.113-0.979) | 3.916 |
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| Reference | Ejghal R, Hida M, Idrissi ML, Hessni AE, Lemrani M.SLC11A1 polymorphisms and susceptibility to visceral leishmaniasis in Moroccan patients.
Acta Trop. 2014 Dec;140:130-6. |
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| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000578.3 |
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| DNA Change | c.393+14G>C (469+14G>C) |
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| A.A. Change | |
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| Exon/Intron | intron 4 |
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| Variation Type | substitution |
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| Reference SNP | rs3731865 |
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| Cases | 106 children who developed visceral leishmaniasis |
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| Controls | 97 asymptomatic subjects |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 57.55% | 63.02% | 1 | | | C | 42.45% | 36.98% | 0.811 (0.460-1.431) | 1.876 | | GG | 32.08% | 40.63% | 1 | | | GC | 50.94% | 44.79% | 0.689 (0.373-1.270) | 0.924 | | CC | 16.98% | 14.58% | 0.689 (0.299-1.586) | 1.520 |
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| Reference | Ejghal R, Hida M, Idrissi ML, Hessni AE, Lemrani M.SLC11A1 polymorphisms and susceptibility to visceral leishmaniasis in Moroccan patients.
Acta Trop. 2014 Dec;140:130-6. |
|---|
| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000578.3 |
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| DNA Change | c.747C>T (823C>T) |
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| A.A. Change | p.Gly249Gly |
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| Exon/Intron | exon 8 |
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| Variation Type | substitution |
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| Reference SNP | rs17221959 |
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| Cases | 106 children who developed visceral leishmaniasis |
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| Controls | 97 asymptomatic subjects |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 88.21% | 73.44% | 1 | | | T | 11.79% | 26.56% | 2.712 (1.284-5.727) | 0.028 | | CC | 79.24% | 52.10% | 1 | | | CT | 17.93% | 42.70% | 3.629 (1.891-6.967) | <0.001 | | TT | 2.83% | 5.20% | 2.532 (0.580-11.051) | 0.828 |
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| Reference | Ejghal R, Hida M, Idrissi ML, Hessni AE, Lemrani M.SLC11A1 polymorphisms and susceptibility to visceral leishmaniasis in Moroccan patients.
Acta Trop. 2014 Dec;140:130-6. |
|---|
| Disease/Phenotype | Kala-azar, susceptibility to, 1 |
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| Reference transcript | NM_000578.3 |
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| DNA Change | c.1627G>A |
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| A.A. Change | p.Asp543Asn |
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| Exon/Intron | exon 15 |
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| Variation Type | substitution |
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| Reference SNP | rs17235409 |
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| Cases | 106 children who developed visceral leishmaniasis |
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| Controls | 97 asymptomatic subjects |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 95.75% | 87.50% | 1 | | | A | 4.25% | 12.50% | 3.545 (1.114-11.280) | 0.084 | | GG | 91.51% | 75.00% | 1 | | | GA | 8.49% | 25.00% | 3.833 (1.634-8.991) | 0.004 | | AA | 0% | 0% | - | - |
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| Reference | Ejghal R, Hida M, Idrissi ML, Hessni AE, Lemrani M.SLC11A1 polymorphisms and susceptibility to visceral leishmaniasis in Moroccan patients.
Acta Trop. 2014 Dec;140:130-6. |
|---|