Database

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

IL12RB1

Gene name: interleukin 12 receptor, beta 1
OMIM ID: 601604
Chromosome location: 19p13.11

Mutations

Disease/Phenotype	Immunodeficiency 30
Reference transcript	NM_005535.1
DNA Change	c.913A>T
A.A. Change	p.Lys305Stop
Exon/Intron	exon 9
Mutation Type	substitution
Reference	Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, Samarina A, Grant AV, Janniere L, El Hafidi N, Hassani A, Nolan D, Najib J, Camcioglu Y, Hatipoglu N, Aydogmus C, Tanir G, Aytekin C, Keser M, Somer A, Aksu G, Kutukculer N, Mansouri D, Mahdaviani A, Mamishi S, Alcais A, Abel L, Casanova JL.IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011 Apr 13;6(4)

Polymorphisms

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.-111A>T

A.A. Change

Exon/Intron

5' of the ATG codon

Variation Type

substitution

Reference SNP

rs393548

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
T	0.12

Comments

The promoter polymorphism -111A>T was found to be associated with PTB: P=0.19 and OR(AT/TT vs AA)=2.03(1.03?4.03).

Reference

Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7.

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.-2C>T

A.A. Change

Exon/Intron

5' of the ATG codon

Variation Type

substitution

Reference SNP

rs436857

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
T	0.10

Comments

The promoter polymorphism -2C>T was found to be associated with PTB: P=0.13 and OR(CT/TT vs CC)= 2.69(1.19?6.09).

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.387G>C

A.A. Change

Exon/Intron

exon 4

Variation Type

substitution

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
C	0.13

Comments

No association was observed between 387G>C polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

409+21C>A

A.A. Change

Exon/Intron

intron 4

Variation Type

substitution

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
A	0.06

Comments

No association was observed between 409+21C>A polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.467G>A

A.A. Change

p.Arg156His

Exon/Intron

exon 5

Variation Type

substitution

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
A	0.10

Comments

No association was observed between 467G>A polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.641A>G

A.A. Change

p.Gln214Arg

Exon/Intron

exon 7

Variation Type

substitution

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
G	0.24

Comments

No association was observed between 641A>G polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.1094T>C

A.A. Change

p.Met365Thr

Exon/Intron

exon 10

Variation Type

substitution

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
C	0.26

Comments

No association was observed between 1094T>C polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.1791+46T>C

A.A. Change

Exon/Intron

intron 15

Variation Type

substitution

Reference SNP

rs383483

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
C	0.46

Comments

No association was observed between 1791+46T>C polymorphism and Pulmonary Tuberculosis,

Reference

Disease/Phenotype

Mycobacterium tuberculosis, susceptibility to

Reference transcript

NM_005535.1

DNA Change

c.1983+24C>T

A.A. Change

Exon/Intron

intron 16

Variation Type

substitution

Reference SNP

rs17882555

Cases

101 Moroccan families, including 157 offspring (age, >15 years)

Controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
T	0.24

Comments

No association was observed between 1983+24C>T polymorphism and Pulmonary Tuberculosis,

Reference

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