Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome

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DOI

  • Trine Korsgaard, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital
  • ,
  • Shivani Joshi
  • Rene F. Andersen
  • Kristina Moeller, Klinkum Link der Weser
  • ,
  • Tomás Seeman, Charles University
  • ,
  • Ludmila Podracká, Comenius University
  • ,
  • Hans Eiberg, Panum Institute
  • ,
  • Søren Rittig

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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Pediatrics
ISSN0340-6199
DOI
StatusE-pub ahead of print - 2020

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