Molecular analysis of HLA‐DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico

Aláez, C.; Infante, Eduardo; Pujol, Jesús; Durán, Clemencia; Navarro, J.; Gorodezky, Clara

doi:10.1034/j.1399-0039.2002.590505.x

Cited by 17 publications

(13 citation statements)

References 42 publications

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“…Moreover, as the NMDP data encompass Native Americans from various tribes, more diversity would be expected than among the Lakota Sioux. Two reports provide a basis for comparison of DRB1; DQB1 haplotypes between the Sioux and the Seri Indians from Northwest Mexico [34], and with four Amerindian tribes of northern Columbia [30]. Two haplotypes frequent among both the Seri and the northern Columbian Amerindians, DRB1*1402;DQB1*0301 and DRB1*0407;DQB1*0302, were found in the Sioux at frequencies Ͼ 10%.…”

Section: Discussionmentioning

confidence: 97%

HLA alleles and haplotypes among the lakota sioux: report of the ASHI minority workshops, part III

Leffell¹,

Fallin

Hildebrand

et al. 2004

Human Immunology

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Section: Discussionmentioning

confidence: 97%

HLA alleles and haplotypes among the lakota sioux: report of the ASHI minority workshops, part III

Leffell¹,

Fallin

Hildebrand

et al. 2004

Human Immunology

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“…Our results showed that three haplotypes were significantly increased in the IPF group suggesting that the MHC may be involved, at least partially, in the genetic susceptibility for this disorder. Two of these haplotypes: HLA-B*52-DRB1*1402-DQB1*0301 and HLA-B*35-DRB1*0407-DQB1*0302 have been identified in Amerindian populations (Alaez et al 2001(Alaez et al , 2002VargasAlarcon et al 2003).…”

Section: Discussionmentioning

confidence: 99%

“…Three haplotypes DRB1*0407-DQB1*0302 (OR=2.49, IC=1.28-4.95; P=0.0057), DRB1*1402-DQB1*0301 (OR= 5.48,P=0.00005), and DRB1*0101-DQB1*0501 (OR=3.66, IC=1.31-11.69; P=0.01) were significantly associated with increased risk to IPF. The first two haplotypes have been identified in Amerindian populations (Alaez et al 2001(Alaez et al , 2002Vargas-Alarcon et al 2003). To further determine the ethnic origin and racial contribution to the different haplotypes, we evaluated the HLA-class I locus B.…”

Section: Baseline Characteristics Of the Ipf Patientsmentioning

confidence: 99%

Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis

et al. 2005

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Idiopathic pulmonary fibrosis (IPF) is a chronic disease characterized by fibroblast expansion, and tissue remodeling. It is considered a multifactorial disease but the possible involved genes are largely unknown. Interestingly, studies regarding the possible role of major histocompatibility complex (MHC) are scanty and show contradictory results. In this study, we evaluated the polymorphisms of the MHC, locus HLA-B, -DRB1, and -DQB1 in a cohort of 75 IPF patients and 95 controls by using PCR and hybridization with sequence-specific oligonucleotide probes. In addition, we examined the effect of bronchoalveolar lavage (BAL) from IPF patients with different MHC haplotypes on alveolar epithelial growth rate by WST-1 cell viability assay and on epithelial apoptosis by flow cytometry and by cleaved caspase-3 in cell homogenates. Three haplotypes were significantly increased in IPF: (1) HLA-B*15-DRB1*0101-DQB1*0501 (OR=10.72, CI=1.43-459.6; pC=0.011); (2) HLA-B*52-DRB1*1402-DQB1*0301 (OR=4.42, CI=1.21-24.1; pC=0.024); and (3) HLA-B*35-DRB1*0407-DQB1*0302 (OR=4.73, CI=1.53-19.5; pC=0.005). BAL from patients with the later haplotype significantly reduced epithelial growth rate ( approximately 30%) and caused epithelial cell apoptosis assayed by cleaved caspase-3 (351.7+/-16.5 pg/10(6) cells versus 264+/-24 from controls, and 274+/-36.8 and 256.5+/-10.7 from the other haplotypes; P<0.05), and DNA breaks labeling by flow cytometry (23.7+/-6.9% versus 3.1+/-0.7% from controls, and 6.5+/-0.6% and 7.6+/-1.2% from the other two haplotypes; P<0.01). These findings suggest that some MHC polymorphisms confer susceptibility to IPF, which might be related with the induction of epithelial cell apoptosis, a critical process in the development of the disease.

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“…For example, ORB I *040 I and *0404, carrying QKRAA and QRRAA motifs respectively, predominate in Northern Europe (24); ORBI *0405 and *1001 are the most frequent in Asiatics (25)(26), *1001 being also present in Spain; ORB 1*010 I, together with ORB 1*040 I, *0404-05 share the epitope Q(K/R)RAA which is associated with RA in Mediterranean patients, including Italians (12,(27)(28)(29); ORBI*1402, 0802, 0811 and 0407, on the other hand, absent or poorly represented in the Italian population, have a significantly higher gene frequency among Native Americans than other ORB I alleles (Navajo and Pimans of Gila River Indian Community of Arizona, Lakota Sioux, Seri tribe of Northwest Mexico) (30)(31)(32). Lastly, among RA patients from some Amerindian racial groups having ORI4 as the most common DR antigen, neither HLA-ORI nor OR4 was found to be associated with specific features of RA or severity of the disease (30, 33L…”

Section: Discussionmentioning

confidence: 99%

Genetic Predisposition to Rheumatoid Arthritis in a Tuscan (Italy) Ancient Human Remain

Fontecchio

Ma²,

Azzarone³

et al. 2007

Int J Immunopathol Pharmacol

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Rheumatoid arthritis (RA) is currently believed to have originated in America, and after the discovery of this continent in 1492, to have been exported to the Old World. We evaluated the genetic predisposition to RA in the “Braids Lady” from Arezzo (Italy), a partially mummified woman's body dating back to the end of 1500 AD which presents the anatomical and pathological features of this disease. The study of the polymorphic HLA-DRB1 locus, which includes alleles strongly associated with RA onset, has received much attention over recent years, especially the loci codifying for the DR1 and DR4 antigens, widely represented in the Mediterranean population, and for DR14, widespread among Native Americans. Molecular analysis was performed on extracts of DNA from the mummy, firstly from histological bone sections and then from the whole bone. Two different HLA typing techniques, PCR-sequence-specific oligonucleotides (PCR-SSO) and PCR-sequence-specific primers (PCR-SSP), were employed to identify HLA-DRB alleles. Both genotyping methods showed that the “Braids Lady” carried the DRB1*0101 allele, the serological equivalent of the DR1 antigen. Although the possession of RA risk factor genes cannot be considered a diagnostic marker, the positive result of the Italian mummy for DRB1*0101 and the RA features present, support the idea that this pathology was present in the Old World from at least the mid-16th century. A pathogenetic hypothesis of RA which might well explain its worldwide diffusion is the “molecular mimicry”, resulting from a cross-reactive antibody response between certain microbial antigens and shared epitopes of specific HLA-DR1, DR4 and DR14 susceptibility alleles, the frequency of which varies among different ethnic groups.

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Molecular analysis of HLA‐DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico

Cited by 17 publications

References 42 publications

HLA alleles and haplotypes among the lakota sioux: report of the ASHI minority workshops, part III

HLA alleles and haplotypes among the lakota sioux: report of the ASHI minority workshops, part III

Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis

Genetic Predisposition to Rheumatoid Arthritis in a Tuscan (Italy) Ancient Human Remain

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