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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

Grigoriadis, D; Sackey, E; Riches, K; van Zanten, M; Brice, G; England, R; Mills, M; Dobbins, SE; Lee, LL; Lipoedema Consortium, ; et al. Grigoriadis, D; Sackey, E; Riches, K; van Zanten, M; Brice, G; England, R; Mills, M; Dobbins, SE; Lee, LL; Lipoedema Consortium; Genomics England Research Consortium; Jeffery, S; Dong, L; Savage, DB; Mortimer, PS; Keeley, V; Pittman, A; Gordon, K; Ostergaard, P (2022) Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort. PLoS One, 17 (10). e0274867. ISSN 1932-6203 https://doi.org/10.1371/journal.pone.0274867
SGUL Authors: Ostergaard, Pia Mills, Michael James

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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.

Item Type: Article
Additional Information: Copyright: © 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/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Keywords: General Science & Technology
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: PLoS One
ISSN: 1932-6203
Language: eng
Dates:
DateEvent
13 October 2022Published
6 September 2022Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
LF#006Lipedema Foundationhttp://dx.doi.org/10.13039/100013317
WT107064Wellcome Trusthttp://dx.doi.org/10.13039/100004440
MRC_MC_UU_12012.1Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
UNSPECIFIEDNational Institute for Health Researchhttp://dx.doi.org/10.13039/501100000272
PubMed ID: 36227936
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/114913
Publisher's version: https://doi.org/10.1371/journal.pone.0274867

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