TY - JOUR
T1 - HLA class II haplotypes in Mexican systemic lupus erythematosus patients
AU - Cortes, Lizette M.
AU - Baltazar, Luz M.
AU - Lopez-Cardona, Maria G.
AU - Olivares, Norma
AU - Ramos, Cesar
AU - Salazar, Mario
AU - Sandoval, Lucila
AU - Lorenz, Matthias G.O.
AU - Chakraborty, Ranajit
AU - Paterson, Andrew D.
AU - Rivas, Fernando
PY - 2004/12/1
Y1 - 2004/12/1
N2 - Systemic lupus erythematosus (SLE) is an autoimmune disease in which polymorphisms within the human leukocyte antigen (HLA) region have been associated to its etiology. For this study, HLA-DQB1, DQA1, and DRB1 genes were typed by polymerase chain reaction-sequence-specific primer in 237 individuals, taken from 74 families, who had a member with SLE, and who had their residence in the western region of Mexico; as well as in 159 ethnically matched healthy volunteers taken from 32 families. Genotype and allele frequency analysis was performed in 74 SLE patients and 54 unrelated controls. Precise three-loci identification of independent haplotypes was performed in 48 patients and 54 controls by familial segregation. Genotype distribution at each loci was concordant with Hardy-Weinberg's equilibrium in the control group. In general, no genotype effect was observed in SLE patients. Allele distribution comparison showed in the SLE group a significant increase of HLA-DQA1*0102, DQB1*0402, and DRB1*15; whereas alleles HLA-DQB1*0303 and *0501 were significantly decreased. SLE patients showed haplotype DQB1*0602-DQA1-*0102-DRB1*15 increased. As expected, patients with SLE have a reduced haplotype genetic diversity. The associations found in this study are related to an ancestral haplotype that has been observed in SLE populations of different origins.
AB - Systemic lupus erythematosus (SLE) is an autoimmune disease in which polymorphisms within the human leukocyte antigen (HLA) region have been associated to its etiology. For this study, HLA-DQB1, DQA1, and DRB1 genes were typed by polymerase chain reaction-sequence-specific primer in 237 individuals, taken from 74 families, who had a member with SLE, and who had their residence in the western region of Mexico; as well as in 159 ethnically matched healthy volunteers taken from 32 families. Genotype and allele frequency analysis was performed in 74 SLE patients and 54 unrelated controls. Precise three-loci identification of independent haplotypes was performed in 48 patients and 54 controls by familial segregation. Genotype distribution at each loci was concordant with Hardy-Weinberg's equilibrium in the control group. In general, no genotype effect was observed in SLE patients. Allele distribution comparison showed in the SLE group a significant increase of HLA-DQA1*0102, DQB1*0402, and DRB1*15; whereas alleles HLA-DQB1*0303 and *0501 were significantly decreased. SLE patients showed haplotype DQB1*0602-DQA1-*0102-DRB1*15 increased. As expected, patients with SLE have a reduced haplotype genetic diversity. The associations found in this study are related to an ancestral haplotype that has been observed in SLE populations of different origins.
KW - HLA class II
KW - Haplotype
KW - association study
KW - systemic lupus erythematosus
UR - http://www.scopus.com/inward/record.url?scp=10444268050&partnerID=8YFLogxK
U2 - 10.1016/j.humimm.2004.09.008
DO - 10.1016/j.humimm.2004.09.008
M3 - Article
C2 - 15603875
AN - SCOPUS:10444268050
VL - 65
SP - 1469
EP - 1476
JO - Human Immunology
JF - Human Immunology
SN - 0198-8859
IS - 12
ER -