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
N1 - Funding Information:
The contributions of the Consejo Nacional de Ciencia y Tecnología (CONACyT, SIMORELOS Grant number 96-02-018) and the Instituto Mexicano del Seguro Social are acknowledged for their financial support of the project and the scholarship to Lizette M. Cortés Prieto along with her graduate student program. The authors gratefully give thanks to the control and patient groups for their participation.
PY - 2004/12
Y1 - 2004/12
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 -