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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort
Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly p...
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Published in: | PloS one 2022-10, Vol.17 (10), p.e0274867-e0274867 |
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creator | Grigoriadis, Dionysios Sackey, Ege Riches, Katie van Zanten, Malou Brice, Glen England, Ruth Mills, Mike Dobbins, Sara E Lee, Li Ling Jeffery, Steve Dong, Liang Savage, David B Mortimer, Peter S Keeley, Vaughan Pittman, Alan Gordon, Kristiana Ostergaard, Pia |
description | Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted. |
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There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0274867</identifier><identifier>PMID: 36227936</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adipose tissue ; Adipose tissues ; Analysis ; Biology and Life Sciences ; Body mass index ; Cellulitis ; Chronic illnesses ; Density ; Disease ; Edema ; Female ; Females ; Gene polymorphism ; Genealogy ; Genetic analysis ; Genetics ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Genomics ; Genotype ; Health aspects ; Humans ; Lipedema ; Lipoma ; Liquids ; Lymphedema ; Medicine and Health Sciences ; Nucleotides ; Obesity ; Pain ; Patients ; Phenotypes ; Physical Sciences ; Polymorphism ; Polymorphism, Single Nucleotide ; Quality of Life ; Questionnaires ; Research and Analysis Methods ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; United Kingdom</subject><ispartof>PloS one, 2022-10, Vol.17 (10), p.e0274867-e0274867</ispartof><rights>COPYRIGHT 2022 Public Library of Science</rights><rights>2022 Grigoriadis et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.</description><subject>Adipose tissue</subject><subject>Adipose tissues</subject><subject>Analysis</subject><subject>Biology and Life Sciences</subject><subject>Body mass index</subject><subject>Cellulitis</subject><subject>Chronic illnesses</subject><subject>Density</subject><subject>Disease</subject><subject>Edema</subject><subject>Female</subject><subject>Females</subject><subject>Gene polymorphism</subject><subject>Genealogy</subject><subject>Genetic analysis</subject><subject>Genetics</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Lipedema</subject><subject>Lipoma</subject><subject>Liquids</subject><subject>Lymphedema</subject><subject>Medicine and Health 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Kristiana</au><au>Ostergaard, Pia</au><aucorp>Genomics England Research Consortium</aucorp><aucorp>Lipoedema Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2022-10-13</date><risdate>2022</risdate><volume>17</volume><issue>10</issue><spage>e0274867</spage><epage>e0274867</epage><pages>e0274867-e0274867</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>See acknowledgement for more information about the consortium.</notes><notes>Competing Interests: The authors have declared that no competing interests exist.</notes><notes>KR and MZ also contributed equally to this work.</notes><abstract>Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>36227936</pmid><doi>10.1371/journal.pone.0274867</doi><tpages>e0274867</tpages><orcidid>https://orcid.org/0000-0001-6316-4561</orcidid><orcidid>https://orcid.org/0000-0001-5320-3467</orcidid><orcidid>https://orcid.org/0000-0002-2190-1356</orcidid><oa>free_for_read</oa></addata></record> |
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recordid | cdi_plos_journals_2724593646 |
source | Publicly Available Content Database; PubMed Central |
subjects | Adipose tissue Adipose tissues Analysis Biology and Life Sciences Body mass index Cellulitis Chronic illnesses Density Disease Edema Female Females Gene polymorphism Genealogy Genetic analysis Genetics Genome-wide association studies Genome-Wide Association Study Genomes Genomics Genotype Health aspects Humans Lipedema Lipoma Liquids Lymphedema Medicine and Health Sciences Nucleotides Obesity Pain Patients Phenotypes Physical Sciences Polymorphism Polymorphism, Single Nucleotide Quality of Life Questionnaires Research and Analysis Methods Single nucleotide polymorphisms Single-nucleotide polymorphism United Kingdom |
title | Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort |
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