Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
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 i...
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| Veröffentlicht in: | European journal of pediatrics 2020-09, Vol.179 (9), p.1481-1486 |
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| container_title | European journal of pediatrics |
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| creator | Korsgaard, Trine Joshi, Shivani Andersen, Rene F. Moeller, Kristina Seeman, Tomás Podracká, Ludmila Eiberg, Hans Rittig, Søren |
| description | 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. |
| doi_str_mv | 10.1007/s00431-020-03634-3 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2381626930</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2381626930</sourcerecordid><originalsourceid>FETCH-LOGICAL-c375t-337c3e5d994160631d4c91612e95c62927bcddd5d8febdc1aa3f9c2d7e93ded3</originalsourceid><addsrcrecordid>eNp9kLFuFDEQhi0EIkfCC1CglWhoTDyeXe-5RBEQpEhporSWz55NHHbtw_aC7u0xXACJgmqK-f5_Rh9jr0C8AyHG8yJEj8CFFFygwp7jE7aBHiUHMaqnbCOwF1yB1ifsRSkPooU0bJ-zE5Sgt0rqDbu9XBcbu5nWL8kdKnU21nBHsbOlJBdsDSl230O97ya7hDnYuSuVcgqeF4ol1PCNukj7-5xqcF05RJ_TQmfs2WTnQi8f5ym7-fjh5uKSX11_-nzx_oo7HIfKEUeHNHite1BCIfjeaVAgSQ-u_SfHnfPeD3470c47sBYn7aQfSaMnj6fs7bF2n9PXlUo1SyiO5tlGSmsxEregpNIoGvrmH_QhrTm254xsFkHCoPpGySPlciol02T2OSw2HwwI81O6OUo3Tbr5Jd1gC71-rF53C_k_kd-WG4BHoLRVvKP89_Z_an8AqOiN9w</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2431121564</pqid></control><display><type>article</type><title>Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome</title><source>Springer Nature - Complete Springer Journals</source><creator>Korsgaard, Trine ; Joshi, Shivani ; Andersen, Rene F. ; Moeller, Kristina ; Seeman, Tomás ; Podracká, Ludmila ; Eiberg, Hans ; Rittig, Søren</creator><creatorcontrib>Korsgaard, Trine ; Joshi, Shivani ; Andersen, Rene F. ; Moeller, Kristina ; Seeman, Tomás ; Podracká, Ludmila ; Eiberg, Hans ; Rittig, Søren</creatorcontrib><description>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.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-020-03634-3</identifier><identifier>PMID: 32198629</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Alleles ; Antigens ; Autosomal recessive inheritance ; Children ; Chromosome 15 ; Chromosome 6 ; Chromosomes ; Heredity ; Histocompatibility antigen HLA ; Kidney diseases ; Medicine ; Medicine & Public Health ; Nephrotic syndrome ; Pediatrics ; Phenotypes ; Short Communication</subject><ispartof>European journal of pediatrics, 2020-09, Vol.179 (9), p.1481-1486</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-337c3e5d994160631d4c91612e95c62927bcddd5d8febdc1aa3f9c2d7e93ded3</citedby><cites>FETCH-LOGICAL-c375t-337c3e5d994160631d4c91612e95c62927bcddd5d8febdc1aa3f9c2d7e93ded3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00431-020-03634-3$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00431-020-03634-3$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32198629$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Korsgaard, Trine</creatorcontrib><creatorcontrib>Joshi, Shivani</creatorcontrib><creatorcontrib>Andersen, Rene F.</creatorcontrib><creatorcontrib>Moeller, Kristina</creatorcontrib><creatorcontrib>Seeman, Tomás</creatorcontrib><creatorcontrib>Podracká, Ludmila</creatorcontrib><creatorcontrib>Eiberg, Hans</creatorcontrib><creatorcontrib>Rittig, Søren</creatorcontrib><title>Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><addtitle>Eur J Pediatr</addtitle><description>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.</description><subject>Alleles</subject><subject>Antigens</subject><subject>Autosomal recessive inheritance</subject><subject>Children</subject><subject>Chromosome 15</subject><subject>Chromosome 6</subject><subject>Chromosomes</subject><subject>Heredity</subject><subject>Histocompatibility antigen HLA</subject><subject>Kidney diseases</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Nephrotic syndrome</subject><subject>Pediatrics</subject><subject>Phenotypes</subject><subject>Short Communication</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNp9kLFuFDEQhi0EIkfCC1CglWhoTDyeXe-5RBEQpEhporSWz55NHHbtw_aC7u0xXACJgmqK-f5_Rh9jr0C8AyHG8yJEj8CFFFygwp7jE7aBHiUHMaqnbCOwF1yB1ifsRSkPooU0bJ-zE5Sgt0rqDbu9XBcbu5nWL8kdKnU21nBHsbOlJBdsDSl230O97ya7hDnYuSuVcgqeF4ol1PCNukj7-5xqcF05RJ_TQmfs2WTnQi8f5ym7-fjh5uKSX11_-nzx_oo7HIfKEUeHNHite1BCIfjeaVAgSQ-u_SfHnfPeD3470c47sBYn7aQfSaMnj6fs7bF2n9PXlUo1SyiO5tlGSmsxEregpNIoGvrmH_QhrTm254xsFkHCoPpGySPlciol02T2OSw2HwwI81O6OUo3Tbr5Jd1gC71-rF53C_k_kd-WG4BHoLRVvKP89_Z_an8AqOiN9w</recordid><startdate>20200901</startdate><enddate>20200901</enddate><creator>Korsgaard, Trine</creator><creator>Joshi, Shivani</creator><creator>Andersen, Rene F.</creator><creator>Moeller, Kristina</creator><creator>Seeman, Tomás</creator><creator>Podracká, Ludmila</creator><creator>Eiberg, Hans</creator><creator>Rittig, Søren</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20200901</creationdate><title>Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome</title><author>Korsgaard, Trine ; Joshi, Shivani ; Andersen, Rene F. ; Moeller, Kristina ; Seeman, Tomás ; Podracká, Ludmila ; Eiberg, Hans ; Rittig, Søren</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-337c3e5d994160631d4c91612e95c62927bcddd5d8febdc1aa3f9c2d7e93ded3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Antigens</topic><topic>Autosomal recessive inheritance</topic><topic>Children</topic><topic>Chromosome 15</topic><topic>Chromosome 6</topic><topic>Chromosomes</topic><topic>Heredity</topic><topic>Histocompatibility antigen HLA</topic><topic>Kidney diseases</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Nephrotic syndrome</topic><topic>Pediatrics</topic><topic>Phenotypes</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Korsgaard, Trine</creatorcontrib><creatorcontrib>Joshi, Shivani</creatorcontrib><creatorcontrib>Andersen, Rene F.</creatorcontrib><creatorcontrib>Moeller, Kristina</creatorcontrib><creatorcontrib>Seeman, Tomás</creatorcontrib><creatorcontrib>Podracká, Ludmila</creatorcontrib><creatorcontrib>Eiberg, Hans</creatorcontrib><creatorcontrib>Rittig, Søren</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Proquest Nursing & Allied Health Source</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Korsgaard, Trine</au><au>Joshi, Shivani</au><au>Andersen, Rene F.</au><au>Moeller, Kristina</au><au>Seeman, Tomás</au><au>Podracká, Ludmila</au><au>Eiberg, Hans</au><au>Rittig, Søren</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome</atitle><jtitle>European journal of pediatrics</jtitle><stitle>Eur J Pediatr</stitle><addtitle>Eur J Pediatr</addtitle><date>2020-09-01</date><risdate>2020</risdate><volume>179</volume><issue>9</issue><spage>1481</spage><epage>1486</epage><pages>1481-1486</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><abstract>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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>32198629</pmid><doi>10.1007/s00431-020-03634-3</doi><tpages>6</tpages></addata></record> |
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| source | Springer Nature - Complete Springer Journals |
| subjects | Alleles Antigens Autosomal recessive inheritance Children Chromosome 15 Chromosome 6 Chromosomes Heredity Histocompatibility antigen HLA Kidney diseases Medicine Medicine & Public Health Nephrotic syndrome Pediatrics Phenotypes Short Communication |
| title | Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome |
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