PMID- 32198629
OWN - NLM
STAT- MEDLINE
DCOM- 20210623
LR  - 20210623
IS  - 1432-1076 (Electronic)
IS  - 0340-6199 (Linking)
VI  - 179
IP  - 9
DP  - 2020 Sep
TI  - Human leukocyte antigen association with familial steroid-sensitive nephrotic 
      syndrome.
PG  - 1481-1486
LID - 10.1007/s00431-020-03634-3 [doi]
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.
FAU - Korsgaard, Trine
AU  - Korsgaard T
AD  - Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, 
      Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark. 
      trine.korsgaard@studmed.au.dk.
FAU - Joshi, Shivani
AU  - Joshi S
AD  - Department of Clinical Medicine, Child and Youth Research Laboratory, Aarhus 
      University, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.
FAU - Andersen, Rene F
AU  - Andersen RF
AD  - Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, 
      Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.
FAU - Moeller, Kristina
AU  - Moeller K
AD  - Department of Pediatrics and Adolescent Medicine, Klinkum Link der Weser, Bremen, 
      Germany.
FAU - Seeman, Tomas
AU  - Seeman T
AD  - Department of Pediatrics, Charles University in Prague - 2nd Faculty of Medicine, 
      Praha 5, Czech Republic.
FAU - Podracka, Ludmila
AU  - Podracka L
AD  - 1st Department of Pediatrics, Children's Hospital and Medical School Comenius 
      University Bratislava, Bratislava, Slovakia.
FAU - Eiberg, Hans
AU  - Eiberg H
AD  - Department of Cellular and Molecular Medicine, Faculty of Health and Medical 
      Science, The Panum Institute, 3B Blegdamsvej, 2200, Copenhagen N, Denmark.
FAU - Rittig, Soren
AU  - Rittig S
AD  - Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, 
      Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.
LA  - eng
PT  - Journal Article
DEP - 20200320
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - 0 (HLA Antigens)
RN  - 0 (Steroids)
SB  - IM
MH  - Alleles
MH  - HLA Antigens
MH  - Humans
MH  - *Nephrotic Syndrome/genetics
MH  - Phenotype
MH  - Steroids
OTO - NOTNLM
OT  - Chromosome 15
OT  - Chromosome 6
OT  - Familial steroid-sensitive nephrotic syndrome
OT  - Human leukocyte antigen
OT  - Whole-genome linkage analysis
EDAT- 2020/03/22 06:00
MHDA- 2021/06/24 06:00
CRDT- 2020/03/22 06:00
PHST- 2019/12/02 00:00 [received]
PHST- 2020/03/11 00:00 [accepted]
PHST- 2020/03/11 00:00 [revised]
PHST- 2020/03/22 06:00 [pubmed]
PHST- 2021/06/24 06:00 [medline]
PHST- 2020/03/22 06:00 [entrez]
AID - 10.1007/s00431-020-03634-3 [pii]
AID - 10.1007/s00431-020-03634-3 [doi]
PST - ppublish
SO  - Eur J Pediatr. 2020 Sep;179(9):1481-1486. doi: 10.1007/s00431-020-03634-3. Epub 
      2020 Mar 20.