The His155Tyr (489C>T) single nucleotide polymorphism of P2RX7 gene confers an enhanced function of P2X7 receptor in immune cells from patients with rheumatoid arthritis.
We assessed the possible association between several single nucleotide polymorphisms (SNP) of P2RX7 gene with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We determined the function of P2X7 receptor and the frequency of the 489C>T, 1096C>G, and 1513A>C SNP of P2RX7 gene in 111 and 122 patients with SLE and RA, and 98 healthy subjects. We found no significant association between the SNPs studied and SLE or RA. We also detected that lymphocytes from SLE and RA patients with the 489C>T SNP showed a higher ethidium bromide uptake in response to ATP than wild type or 1096C>G/1513A>C subjects. In addition, cells from RA patients and the 489C>T genotype, showed higher [Ca(2+)]i responses to ATP. Our data indicate that the 489C>T SNP of P2RX7 gene confers an enhanced function of this receptor in patients with RA, which may contribute to the pathogenesis of this condition.
Laboratorio de Inmunología y Biología Celular y Molecular, Facultad de Ciencias Químicas, UASLP, Mexico.
Liliana
L
Portales-Cervantes
Perla
P
Niño-Moreno
Mariana
M
Salgado-Bustamante
Mariana H
MH
García-Hernández
Lourdes
L
Baranda-Candido
Elizabeth
E
Reynaga-Hernández
Carlos
C
Barajas-López
Roberto
R
González-Amaro
Diana P
DP
Portales-Pérez
D000255:Adenosine Triphosphate / Q000276:immunology / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology*; D002118:Calcium / Q000276:immunology / Q000378:metabolism; D002478:Cells, Cultured; D005260:Female; D005838:Genotype; D006801:Humans; D020382:Interleukin-18 / Q000276:immunology; D053583:Interleukin-1beta / Q000276:immunology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D058486:Receptors, Purinergic P2X7 / Q000235:genetics* / Q000276:immunology*; D055815:Young Adult
D020382:Interleukin-18; D053583:Interleukin-1beta; C546468:P2RX7 protein, human; D058486:Receptors, Purinergic P2X7; D000255:Adenosine Triphosphate; D002118:Calcium