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Genes (14)
Species: human : 14 | |
Human | TNF | 7124 | tumor necrosis factor | Predisposition to rheumatic heart disease is influenced by cytokine gene polymorphisms esp. composite polymorphism (TNF-alpha(-308 )A/A and IL-10(-1082) A/A) and (TNF-alpha(-308 )A/A and IL-10(-1082) G/G) | Human | TLR4 | 7099 | toll-like receptor 4 | In the TLR4 gene, Asp 299Gly polymorphism did not reach to a statistically significant value in rheumatic heart disease patients | Human | TLR2 | 7097 | toll-like receptor 2 | found no Arg753Gln polymorphism of the TLR2 gene in the rheumatic heart disease patient group; did not detect Arg677Trp polymorphism of the TLR2 gene in both patient and control groups | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | the expression of TGF-beta 1, and proliferation of myofibroblasts within the valves have a potential role in the valvular fibrosis, calcification, and changes in the extracellular matrix that lead to the scarring sequelae of rheumatic heart disease Title:Association between transforming growth factor-beta1 gene C-509T and T869C polymorphisms and rheumatic heart disease.|Association:Y|Conclusion:Patients with RHD have a lower frequency of TGF-beta1 C-509T CC genotype and a higher frequency of T869C T allele, which supports a role for the TGF-beta1 gene C-509T and T869C polymorphisms in determining the risk/protection of RHD in Taiwan Chinese patients. | Human | RHD | 6007 | Rh blood group, D antigen | Fetal RHD was detected in all 23 mothers with RhD pos child RHCE represents the ancestral RH position, while RHD is the duplicated gene Molecular analysis of Hor+, Mol+ variants revealed a hybrid gene structure RHCe-D(5)-Ce, in which exon 5 of RHCE (RHCe allele) was replaced by exon 5 of RHD (the so-called RHCeVA allele resulting in several AA alterations in the external loop 4 CeVA strong selection might be working to maintain the RHCE/RHD antigen variation in the two-locus system By describing the RHD(F223V) (602C>G) and RHD(T201R, F223V) (602C>G and 667T>G) alleles formal proof is given for the origin of the non-Eurasian cluster | Human | RHCE | 6006 | Rh blood group, CcEe antigens | strong selection might be working to maintain the RHCE/RHD antigen variation in the two-locus system Molecular analysis of Hor+, Mol+ variants revealed a hybrid gene structure RHCe-D(5)-Ce, in which exon 5 of RHCE (RHCe allele) was replaced by exon 5 of RHD (the so-called RHCeVA allele) RHCE represents the ancestral RH position, while RHD is the duplicated gene | Human | MBL2 | 4153 | mannose-binding lectin (protein C) 2, soluble | Title:[Mannose-binding lectin gene site mutations and the susceptibility of rheumatic heart disease]|Association:Not Found|Conclusion:MBL gene mutations may not be a main factor of the pathogenesis of CRHD, but MBL deficiency may facilitate the development of CRHD in younger people and accelerate the progress of CRHD. This is consistent with the phenomenon that the most susceptible people of rheumatic heart disease are teenagers. | Human | LTBP1 | 4052 | latent transforming growth factor beta binding protein 1 | Patients with RHD have a lower frequency of TGF-beta1 C-509T CC genotype and a higher frequency of T869C T allele, which supports a role for these polymorphisms in determining the risk/protection of RHD in Taiwan Chinese patients | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | No significant difference was found regarding the frequency of IL-6(-174 )G/C polymorphisms in rheumatic heart disease compared to controls (p > 0.05) | Human | HLA-DRB1 | 3123 | | Title:HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia.|Association:Y|Conclusion:Genotyping control showed a high risk of RF and RHD in patients with DRB1*01-DQB1*0301-DRB1*07-DQB1*0302 and DRB1*15-DQB1*0302-DRB1*07-DQB1*0303. certain HLA class II haplotypes are associated with risk for or protection against RHD and that these associations are more evident in patients in clinically homogeneous groups Title:MHC class II alleles in Mexican patients with rheumatic heart disease.|Association:Not Found|Conclusion:Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients. For class II antigens, RHD patients had higher frequencies for HLA-DRB1*01, DRB1*04 , DRB1*07 and HLA-DQB1*02 without reaching statistical significance, and significantly lower frequencies for DRB1*13, DRB5* and DRB3* compared to controls | Human | HLA-DQB1 | 3119 | | certain HLA class II haplotypes are associated with risk for or protection against RHD and that these associations are more evident in patients in clinically homogeneous groups Title:HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia.|Association:Y|Conclusion:Genotyping control showed a high risk of RF and RHD in patients with DRB1*01-DQB1*0301-DRB1*07-DQB1*0302 and DRB1*15-DQB1*0302-DRB1*07-DQB1*0303. Title:MHC class II alleles in Mexican patients with rheumatic heart disease.|Association:Not Found|Conclusion:Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients. | Human | HLA-DQA1 | 3117 | | Title:MHC class II alleles in Mexican patients with rheumatic heart disease.|Association:Not Found|Conclusion:Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients. | Human | DUSP1 | 1843 | dual specificity phosphatase 1 | in patients with rheumatic heart disease and heart failure MKP-1 activity was depressed in class IV patients compared to those in classes II and III | Human | MAPK14 | 1432 | mitogen-activated protein kinase 14 | in patients with rheumatic heart disease and heart failure p38MAPK activity was elevated in class IV patients compared to those in classes II and III |
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