Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism
Balkan Endemic Nephropathy (BEN) is a kidney degenerative disease with a high incidence in the valleys of the Danube and tributary rivers. Many studies describe it as a multifactorial disease. Environmental as well immuno-inflammatory and genetic cofactors have been suggested to trigger the onset of...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2012-09-01
|
| Series: | European Journal of Inflammation |
| Online Access: | https://doi.org/10.1177/1721727X1201000315 |
| _version_ | 1818533264379346944 |
|---|---|
| author | D. Frezza E. Serone S. Lolli R. Cianci P. D'Addabbo C. Mattioli V. Giambra N. Pavlovic V. Djordjevic S. Kostic F. Pandolfi E. Kostic |
| author_facet | D. Frezza E. Serone S. Lolli R. Cianci P. D'Addabbo C. Mattioli V. Giambra N. Pavlovic V. Djordjevic S. Kostic F. Pandolfi E. Kostic |
| author_sort | D. Frezza |
| collection | DOAJ |
| description | Balkan Endemic Nephropathy (BEN) is a kidney degenerative disease with a high incidence in the valleys of the Danube and tributary rivers. Many studies describe it as a multifactorial disease. Environmental as well immuno-inflammatory and genetic cofactors have been suggested to trigger the onset of the disease. Recently, high levels of C-reactive protein were demonstrated in BEN patients. We performed this study to evaluate the possible correlation of BEN with the polymorphism of the Ig heavy chain 3'Regulatory Region enhancer hsl.2 that is related to changes of consensus for trans activators binding within the DNA sequence and probably consequently autoimmune and inflammatory diseases. Therefore, we studied three cohorts: 1) 111 control subjects, 2) 95 BEN patients in dialysis therapy and 3) 133 components of a large family “J” in the same geographical area. The allelic frequencies of hsl.2 of BEN patients and family “J” components had similar decrease frequency of allele *1 and increase of allele *2 in respect to the controls. This trend suggests the association of allele *1 as a protective and allele *2 as a risk component for the disease. The presence of a consensus sequence for NF-Kb in the allele *2 may link the polymorphism to the inflammatory activity of BEN. This study supports the presence of an inflammatory pathway in BEN through the involvement of polymorphic enhancer hsl.2 influencing differently binding complexes and consequently the 3D structure of 3' Regulatory Region of IgH. Our work is the first study that clearly links BEN to a gene involved in the regulation of immune response. |
| first_indexed | 2024-12-11T17:56:23Z |
| format | Article |
| id | doaj.art-aa814704933a4af784947deef8e8c891 |
| institution | Directory Open Access Journal |
| issn | 1721-727X |
| language | English |
| last_indexed | 2024-12-11T17:56:23Z |
| publishDate | 2012-09-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | European Journal of Inflammation |
| spelling | doaj.art-aa814704933a4af784947deef8e8c8912022-12-22T00:56:03ZengSAGE PublishingEuropean Journal of Inflammation1721-727X2012-09-011010.1177/1721727X1201000315Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer PolymorphismD. Frezza0E. Serone1S. Lolli2R. Cianci3P. D'Addabbo4C. Mattioli5V. Giambra6N. Pavlovic7V. Djordjevic8S. Kostic9F. Pandolfi10E. Kostic11 Department of Biology “Enrico Calef”, University of Roma Tor Vergata, Rome, Italy Department of Biology “Enrico Calef”, University of Roma Tor Vergata, Rome, Italy Institute of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy Institute of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy Department of Biology, University of Bari, Bari, Italy Department of Biology “Enrico Calef”, University of Roma Tor Vergata, Rome, Italy Terry Fox Laboratory, BC Cancer Agency, Vancouver, Canada Clinic for Nephrology, Clinical Center Nis, University of Nis, Serbia Clinic for Nephrology, Clinical Center Nis, University of Nis, Serbia Clinic for Nephrology, Clinical Center Nis, University of Nis, Serbia Institute of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy Clinic for Nephrology, Clinical Center Nis, University of Nis, SerbiaBalkan Endemic Nephropathy (BEN) is a kidney degenerative disease with a high incidence in the valleys of the Danube and tributary rivers. Many studies describe it as a multifactorial disease. Environmental as well immuno-inflammatory and genetic cofactors have been suggested to trigger the onset of the disease. Recently, high levels of C-reactive protein were demonstrated in BEN patients. We performed this study to evaluate the possible correlation of BEN with the polymorphism of the Ig heavy chain 3'Regulatory Region enhancer hsl.2 that is related to changes of consensus for trans activators binding within the DNA sequence and probably consequently autoimmune and inflammatory diseases. Therefore, we studied three cohorts: 1) 111 control subjects, 2) 95 BEN patients in dialysis therapy and 3) 133 components of a large family “J” in the same geographical area. The allelic frequencies of hsl.2 of BEN patients and family “J” components had similar decrease frequency of allele *1 and increase of allele *2 in respect to the controls. This trend suggests the association of allele *1 as a protective and allele *2 as a risk component for the disease. The presence of a consensus sequence for NF-Kb in the allele *2 may link the polymorphism to the inflammatory activity of BEN. This study supports the presence of an inflammatory pathway in BEN through the involvement of polymorphic enhancer hsl.2 influencing differently binding complexes and consequently the 3D structure of 3' Regulatory Region of IgH. Our work is the first study that clearly links BEN to a gene involved in the regulation of immune response.https://doi.org/10.1177/1721727X1201000315 |
| spellingShingle | D. Frezza E. Serone S. Lolli R. Cianci P. D'Addabbo C. Mattioli V. Giambra N. Pavlovic V. Djordjevic S. Kostic F. Pandolfi E. Kostic Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism European Journal of Inflammation |
| title | Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism |
| title_full | Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism |
| title_fullStr | Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism |
| title_full_unstemmed | Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism |
| title_short | Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism |
| title_sort | balkan endemic nephropathy risk associates to the hs1 2 ig enhancer polymorphism |
| url | https://doi.org/10.1177/1721727X1201000315 |
| work_keys_str_mv | AT dfrezza balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT eserone balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT slolli balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT rcianci balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT pdaddabbo balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT cmattioli balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT vgiambra balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT npavlovic balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT vdjordjevic balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT skostic balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT fpandolfi balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism AT ekostic balkanendemicnephropathyriskassociatestothehs12igenhancerpolymorphism |