Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
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Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome. / Korsgaard, Trine; Joshi, Shivani; Andersen, Rene F; Moeller, Kristina; Seeman, Tomás; Podracká, Ludmila; Eiberg, Hans; Rittig, Søren.
In: European Journal of Pediatrics, Vol. 179, No. 9, 2020, p. 1481-1486.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
AU - Korsgaard, Trine
AU - Joshi, Shivani
AU - Andersen, Rene F
AU - Moeller, Kristina
AU - Seeman, Tomás
AU - Podracká, Ludmila
AU - Eiberg, Hans
AU - Rittig, Søren
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
U2 - 10.1007/s00431-020-03634-3
DO - 10.1007/s00431-020-03634-3
M3 - Journal article
C2 - 32198629
VL - 179
SP - 1481
EP - 1486
JO - Acta Paediatrica Hungarica
JF - Acta Paediatrica Hungarica
SN - 0340-6199
IS - 9
ER -
ID: 253400516