Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients...
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| Format: | Article |
| Language: | English |
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BMC
2009-01-01
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| Series: | Biological Research |
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| Online Access: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007 |
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| author | RODRIGO GONZÁLEZ ARES TIRADO LUIS A ROJAS FRANCISCO J OSSANDÓN MIRIAM ALVO CARLOS WOLFF DANIELA SEELENFREUND PILAR DURRUTY SERGIO LOBOS |
| author_facet | RODRIGO GONZÁLEZ ARES TIRADO LUIS A ROJAS FRANCISCO J OSSANDÓN MIRIAM ALVO CARLOS WOLFF DANIELA SEELENFREUND PILAR DURRUTY SERGIO LOBOS |
| author_sort | RODRIGO GONZÁLEZ |
| collection | DOAJ |
| description | We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site. |
| first_indexed | 2024-12-22T10:53:44Z |
| format | Article |
| id | doaj.art-089f7307ee504c1fa84d7fc07188e568 |
| institution | Directory Open Access Journal |
| issn | 0716-9760 0717-6287 |
| language | English |
| last_indexed | 2024-12-22T10:53:44Z |
| publishDate | 2009-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Biological Research |
| spelling | doaj.art-089f7307ee504c1fa84d7fc07188e5682022-12-21T18:28:41ZengBMCBiological Research0716-97600717-62872009-01-01422189198Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathyRODRIGO GONZÁLEZARES TIRADOLUIS A ROJASFRANCISCO J OSSANDÓNMIRIAM ALVOCARLOS WOLFFDANIELA SEELENFREUNDPILAR DURRUTYSERGIO LOBOSWe present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007diabetic nephropathyNPHS1polymorphismsplicing enhancer |
| spellingShingle | RODRIGO GONZÁLEZ ARES TIRADO LUIS A ROJAS FRANCISCO J OSSANDÓN MIRIAM ALVO CARLOS WOLFF DANIELA SEELENFREUND PILAR DURRUTY SERGIO LOBOS Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy Biological Research diabetic nephropathy NPHS1 polymorphism splicing enhancer |
| title | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy |
| title_full | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy |
| title_fullStr | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy |
| title_full_unstemmed | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy |
| title_short | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy |
| title_sort | analysis of the intronic single nucleotide polymorphism rs 466452 of the nephrin gene in patients with diabetic nephropathy |
| topic | diabetic nephropathy NPHS1 polymorphism splicing enhancer |
| url | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007 |
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