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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Bibliographic Details
Published in:PloS one 2022-10, Vol.17 (10), p.e0274867-e0274867
Main Authors: 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
Format: Article
Language:English
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
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Description
Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0274867