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Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
T. Korsgaard, S. Joshi, RF. Andersen, K. Moeller, T. Seeman, L. Podracká, H. Eiberg, S. Rittig
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
NLK
ProQuest Central
od 1996-01-01 do Před 1 rokem
CINAHL Plus with Full Text (EBSCOhost)
od 2012-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 1997-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest)
od 1996-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1996-01-01 do Před 1 rokem
Family Health Database (ProQuest)
od 1996-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 1996-01-01 do Před 1 rokem
- MeSH
- alely MeSH
- fenotyp MeSH
- HLA antigeny MeSH
- lidé MeSH
- nefrotický syndrom * genetika MeSH
- steroidy MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood. Cases with the familial occurrence of SSNS suggest that genetics may play a role in the disease. Human leucocyte antigen (HLA) alleles have been associated with SSNS. We present genetic findings in nine families (44 participants), each with at least two affected siblings. A total of 19 patients were affected with familial SSNS. Six of nine families showed linkage to markers on chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. Interestingly, we also found linkage of disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score Z = 3.02.Conclusion: Our findings confirm the linkage of HLA markers on chromosome 6, which strengthens the association of HLA alleles in SSNS. What is Known: • Human leukocyte antigen (HLA) alleles have been associated with idiopathic steroid-sensitive nephrotic syndrome (SSNS). Only few studies have investigated the association between HLA alleles and familial SSNS. What is New: • We present evidence of linkage of familial SSNS to chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. We also found linkage of the disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score of Z = 3.02 following autosomal recessive inheritance pattern.
Department of Pediatrics and Adolescent Medicine Klinkum Link der Weser Bremen Germany
Department of Pediatrics Charles University Prague 2nd Faculty of Medicine Praha 5 Czech Republic
Citace poskytuje Crossref.org
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- $a Korsgaard, Trine $u Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark. trine.korsgaard@studmed.au.dk
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- $a Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome / $c T. Korsgaard, S. Joshi, RF. Andersen, K. Moeller, T. Seeman, L. Podracká, H. Eiberg, S. Rittig
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- $a Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood. Cases with the familial occurrence of SSNS suggest that genetics may play a role in the disease. Human leucocyte antigen (HLA) alleles have been associated with SSNS. We present genetic findings in nine families (44 participants), each with at least two affected siblings. A total of 19 patients were affected with familial SSNS. Six of nine families showed linkage to markers on chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. Interestingly, we also found linkage of disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score Z = 3.02.Conclusion: Our findings confirm the linkage of HLA markers on chromosome 6, which strengthens the association of HLA alleles in SSNS. What is Known: • Human leukocyte antigen (HLA) alleles have been associated with idiopathic steroid-sensitive nephrotic syndrome (SSNS). Only few studies have investigated the association between HLA alleles and familial SSNS. What is New: • We present evidence of linkage of familial SSNS to chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. We also found linkage of the disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score of Z = 3.02 following autosomal recessive inheritance pattern.
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- $a Joshi, Shivani $u Department of Clinical Medicine, Child and Youth Research Laboratory, Aarhus University, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark
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- $a Rittig, Søren $u Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark
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