The HLA 8.1 ancestral haplotype is strongly linked to the C allele of −429T&gt;C promoter polymorphism of receptor of the advanced glycation endproduct (RAGE) gene. Haplotype-independent association of the −429C allele with high hemoglobinA1C levels in diabetic patients

Laki, Judit; Kiszel, Petra; Vatay, Ágnes; Blaskó, Bernadett; Kovács, Margit; Körner, Anna; Madácsy, L; Blatniczky, László; Almássy, Zsuzsa; Szalai, Csaba; Rajczy, Katalin; Pozsonyi, Éva; Karádi, István; Fazakas, Ádám; Hosszúfalusi, Nóra; Pánczél, Pál; Arason, G J; Wu, Yee Ling; Zhou, Bi; Yang, Yan; Yu, Chack‐Yung; Füst, George

doi:10.1016/j.molimm.2006.01.011

Cited by 25 publications

(22 citation statements)

References 30 publications

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“…Three (CFB S4F, LTA 252 A4G and HSPA1B 1267 A4G) of those were also involved in the mentioned study on IHWG reference cell lines, 16 whereas the other two (TNF À 308 G4A and AGER À 429 T4C) were chosen because they formerly proved to be useful tools for haplotype tagging. 26,27 As expected, chromosomes with identical extended haplotypes tend to carry the same RCCX structures. The only exception found was AH18.…”

Section: Characterization Of Rccx Variants Z Bánlaki Et Alsupporting

confidence: 71%

Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes

et al. 2012

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The human RCCX is a common multiallelic copy number variation locus whose number of segments varies between one and four in a chromosome. The monomodular form normally comprises four functional genes, but in duplicated RCCX segments generally only the gene-encoding complement component C4 produces a protein. C4 genes can code either for a C4A or a C4B isotype protein and exhibit dichotomous size variation. Distinct RCCX variants show association with numerous diseases; however, identification of the basis of these associations is often challenging, not least because the RCCX is localized in the major histocompatibility complex (MHC) region, a genomic area characterized by exceedingly long-range linkage disequilibrium. Here we present a detailed analysis on RCCX variants and their relationship with so-called 'ancestral' or 'conserved extended' MHC haplotypes in healthy Caucasians. In addition to former investigations, precise order and size of all C4A and C4B genes were determined even in trimodular RCCX structures. Considering C4 copy numbers, length, isotype specificity and CYP21A2 copy numbers, we have identified 15 distinct RCCX variants and described the RCCX structures involved in 29 repeatedly occurring MHC haplotypes. The findings should become a useful tool for future RCCX-and MHC-related disease association studies.

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Section: Characterization Of Rccx Variants Z Bánlaki Et Alsupporting

confidence: 71%

Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes

et al. 2012

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“…It is possible that there could be differential degrees of associations of these haplotypes with the clinical presentation or phenotypes of various diseases associated with such haplotypes in the Indian population. For example, in a recent study [45], a significantly higher maximal hemoglobin A1C concentration was reported in patients with type 1 diabetes who carried the RAGE-429C and HLA-DQ2 alleles, but this trait was not linked with the whole AH8.1. Since autoimmune disease associations are shared among these otherwise diverse haplotypes, these data strongly suggest that some shared component(s) of all these associated haplotypes may be playing a key role in such associations.…”

Section: Discussionmentioning

confidence: 91%

Autoimmune-associated HLA-B8-DR3 haplotypes in Asian Indians are unique in C4 complement gene copy numbers and HSP-2 1267A/G

et al. 2008

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“…For example, a recent study suggested that the HLA 8.1 ancestral haplotype was strongly linked to the C allele of the À429T4C polymorphism of the RAGE gene. 5 Experimental studies elucidated that cells expressing the RAGE G82S polymorphism showed enhanced ligand-binding affinity and led to increased ligand-stimulated activation of proinflammatory mediators compared with the common RAGE G82 isoform. 6 Furthermore, an association of the G82S polymorphism with diabetic retinopathy has been reported recently and the G-A haplotype containing 1704G and 82S alleles was suggested to be a risk marker of diabetic retinopathy in Chinese type 2 diabetic patients.…”

Section: Introductionmentioning

confidence: 99%

Association of polymorphisms in the RAGE gene with serum CRP levels and coronary artery disease in the Chinese Han population

et al. 2010

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The role of an advanced glycation end product/receptor for advanced glycation end product (AGE/RAGE) system in the pathogenesis of coronary artery disease (CAD) is not fully understood. To clarify whether polymorphisms of the RAGE gene were related to CAD, we performed a case-control study in Chinese Han patients. The allele frequencies and genotype distribution combinations of the À429T/C, 1704G/T and G82S polymorphisms of the RAGE gene were compared in 200 cases of hypertension (HT), 155 cases of CAD combined with HT (CAD&HT), 175 cases of CAD and 170 control subjects. Polymerase chain reaction-restriction fragment length polymorphism was used for detection of genotypic variants. The S allele frequency of the G82S polymorphism was higher in the CAD (odds ratio (OR), 2.303, 95% confidence interval (CI) 1.553-3.416; Po0.001, P corr o0.003) and CAD&HT (OR, 1.842; 95% CI 1.219-2.785; Po0.003, P corr o0.009) groups when compared with the control group. However, the S allele frequency was not significantly different between the CAD and the CAD&HT patient groups (P¼0.223), and no statistically significant difference of genotype or allele frequency distributions was observed in the HT group (P40.05). Meanwhile, serum CRP was significantly associated with the G82S variant. Haplotype-based logistic regression analysis revealed that haplotype G-Ser-T (OR, 1.670; 95% CI, 1.017-2.740; P¼0.043), compared with the reference haplotype T-Gly-T, was associated with an increased risk of CAD after adjusting for other risk factors. Further analysis limited to nondiabetic participants exhibited similar significant findings. The haplotype carrying the G82S variant of the RAGE gene was significantly associated with an increased risk of CAD, but not with HT patients. Moreover, a remarkable association of the G82S variant with serum CRP levels implied that the prevalence of RAGE 82S allelic variation might influence susceptibility to CAD by affecting vascular inflammation.

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The HLA 8.1 ancestral haplotype is strongly linked to the C allele of −429T>C promoter polymorphism of receptor of the advanced glycation endproduct (RAGE) gene. Haplotype-independent association of the −429C allele with high hemoglobinA1C levels in diabetic patients

Cited by 25 publications

References 30 publications

Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes

Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes

Autoimmune-associated HLA-B8-DR3 haplotypes in Asian Indians are unique in C4 complement gene copy numbers and HSP-2 1267A/G

Association of polymorphisms in the RAGE gene with serum CRP levels and coronary artery disease in the Chinese Han population

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