Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Kala-azar, susceptibility to, 1

OMIM:608207
Mode of inheritance:Multifactorial
Disease classification:Certain infectious and parasitic diseases


Polymorphisms

Gene symbolMBL2
Reference transcriptNM_000242.2
DNA Changec.161G>A
A.A. Changep.Gly54Asp
Exon/Intronexon 1
Variation Typesubstitution
Reference SNPrs1800450
Cases104 patients with VL
Controls93 asymptomatic
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Gly0.8120.861
Asp0.1880.141.42 (0.827-2.44)0.2027
Gly/Gly71(68.27%)70 (75.27%)1
Gly/Asp27 (25.96%)20 (21.5%)1.331 (0.684-2.590)0.399
Asp/Asp6 (5.77%)3(3.23%)1.972 [0.474-8.196]0.3429
Gly/Asp+Asp/Asp33(31.73%)23(24.73%)1.415 (0.756-2.647)0.27689
CommentsNo significant association between MBL2-Gly54Asp polymorphism and infection with Leishmania infantum.
ReferenceHamdi 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.
Gene symbolMBL2
Reference transcriptNM_000242.2
DNA Changec.170G>A
A.A. Changep.Gly57Glu
Exon/Intronexon 1
Variation Typesubstitution
Reference SNPrs1800451
Cases104 patients with VL
Controls93 asymptomatic
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Gly0.9180.8921
Glu0.0820.1080.739 (0.375-1.457)0.38086
Gly/Gly88 (84.62%)77 (82.79%)1
Gly/Glu15(14.42%)12(12.9%)1.094 [0.482-2.479]0.83003
Glu/Glu1(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
CommentsNo significant association between MBL2-Gly57Glu polymorphism and infection with Leishmania infantum.
ReferenceHamdi 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.
Gene symbolMBL2
Reference transcriptNM_000242.2
DNA Changec.-290C>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs7096206
Cases112 patients with VL
Controls42 asymptomatic
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.6920.5771
C0.308 0.4230.608 (0.407-0.909)0.01496
GG58 (51.79%)26(26.8%)1
GC39 (34.32%)60(61.85%)0.291 (0.158-0.538)0.00006
CC15 (13.39%)11(11.34%)0.611 (0.247-1.511)0.2842
GC+CC54(48.21%)71(73.19%)0.341 (0.190-0.610)0.00024
CommentsThe promoter polymorphism was found to be associated with protection against Leishmania infantum.
ReferenceHamdi 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.
Gene symbolSLC11A1
Reference transcriptNM_000578.3
DNA Changec.-443_-442insGT (GT repeat)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typerepeat
Reference SNPrs34448891
Cases106 children who developed visceral leishmaniasis
Controls97 asymptomatic subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
288/28824.53%25.00%1
286/28614.15%4.17%0.2860.144
286/28831.13%38.54%1.258 (0.608-2.605)2.144
286/2901.89%6.25%3.000 (0.552-16.317)0.712
288/29010.38%19.79%2.000 (0.781-5.120)0.572
290/29017.92%6.25%0.333 (0.113-0.979)3.916
ReferenceEjghal 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.
Gene symbolSLC11A1
Reference transcriptNM_000578.3
DNA Changec.393+14G>C (469+14G>C)
A.A. Change
Exon/Intronintron 4
Variation Typesubstitution
Reference SNPrs3731865
Cases106 children who developed visceral leishmaniasis
Controls97 asymptomatic subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G57.55%63.02%1
C42.45%36.98%0.811 (0.460-1.431)1.876
GG32.08%40.63%1
GC50.94%44.79%0.689 (0.373-1.270)0.924
CC16.98%14.58%0.689 (0.299-1.586)1.520
ReferenceEjghal 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.
Gene symbolSLC11A1
Reference transcriptNM_000578.3
DNA Changec.747C>T (823C>T)
A.A. Changep.Gly249Gly
Exon/Intronexon 8
Variation Typesubstitution
Reference SNPrs17221959
Cases106 children who developed visceral leishmaniasis
Controls97 asymptomatic subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C88.21%73.44%1
T11.79%26.56%2.712 (1.284-5.727)0.028
CC79.24%52.10%1
CT17.93%42.70%3.629 (1.891-6.967)<0.001
TT2.83%5.20%2.532 (0.580-11.051)0.828
ReferenceEjghal 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.
Gene symbolSLC11A1
Reference transcriptNM_000578.3
DNA Changec.1627G>A
A.A. Changep.Asp543Asn
Exon/Intronexon 15
Variation Typesubstitution
Reference SNPrs17235409
Cases106 children who developed visceral leishmaniasis
Controls97 asymptomatic subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G95.75%87.50%1
A4.25%12.50%3.545 (1.114-11.280)0.084
GG91.51%75.00%1
GA8.49%25.00%3.833 (1.634-8.991)0.004
AA0%0%--
ReferenceEjghal 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.