PTPN22

Gene name: protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
OMIM ID: 600716
Chromosome location: 1p13.2

Polymorphisms

Disease/Phenotype	Mycobacterium tuberculosis, susceptibility to
Reference transcript	NM_015967.5
DNA Change	c.1858C>T
A.A. Change	p.Arg565Gly
Variation Type	substitution
Reference SNP	rs2476601
Cases	123 pulmonary TB patients
Controls	155 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value C 245 (99.59%) 300 (96.78%) 1 T 1 (0.41%) 10 (3.22%) 0.14 (0.01-0.93) 0.01 CC 122 (99.19%) 145 (93.55%) 1 CT 1 (0.81%) 10 (6.45%) 0.12 (0.01-0.92) 0.01 TT 0 0
Comments	The polymorphism C1858T may affect susceptibility to TB.
Reference	Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, Martin J. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens. 2009 Sep;74(3):228-32.

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Disease/Phenotype	Mycobacterium tuberculosis, susceptibility to
Reference transcript	NM_015967.5
DNA Change	c.788G>A
A.A. Change	R263Q
Variation Type	substitution
Reference SNP	rs33996649
Cases	123 pulmonary TB patients
Controls	155 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value G 237 (96.35%) 308 (99.35%) 1 A 9 (3.65%) 2 (0.65%) 5.85 (1.17-39.55) 0.01 GG 114 (92.69) % 153 (98.71%) GA 9 (7.31%) 2 (1.29%) 6.04 (1.19-41.30) 0.01 AA 0 0
Comments	The polymorphism G788A may affect susceptibility to TB.
Reference	Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, Martin J. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens. 2009 Sep;74(3):228-32.

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