PMID- 38516060
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240323
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 14
DP  - 2023
TI  - High-resolution genomic profiling and locus-specific FISH in subcutaneous and 
      visceral adipose tissue of obese patients.
PG  - 1323052
LID - 10.3389/fgene.2023.1323052 [doi]
LID - 1323052
AB  - Obesity is known as a heterogeneous and multifactorial disease. The distribution 
      of body fat is crucial for the development of metabolic complications. 
      Comprehensive genetic analyses on different fat tissues are rare but necessary to 
      provide more detailed information. Therefore, we performed genetic analyses of 
      three patients with obesity using high resolution genome wide SNP array (blood, 
      visceral fat tissue) and fluorescence in situ hybridization (FISH) analyses 
      (visceral and subcutaneous fat tissue). Altogether, we identified 31 small Copy 
      Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 
      7q31.33, 7q33, 8p23.3, 10q22.3, 11p15.4, 11p15.1, 11p14.2, 11p12, 13q12.3, 
      15q11.2-q13.1, 15q13.3, 20q13.2, 22q11.21; gains: 2q22.1-q22.2, 3p14.3, 4p16.3, 
      4q32.2, 6q27, 7p14.3, 7q34, 11p12, 12p11.21, 16p11.2-p11.1, 17q21.31) and 289 
      small copy-neutral Loss of Heterozygosity (cn-LOH). For the chromosomal region 
      15q11.2-q13.1, we detected a microdeletion (Prader-Willi-Syndrome) in one 
      patient. Interestingly, we identified chromosomal SNP differences between 
      EDTA-blood and visceral fat tissue (deletion and gain). Small losses of 7q31.33, 
      7q33, 11p14.2, 11p12, 13q12.3 as well as small gain of 7q34 were detected only in 
      fat tissue and not in blood. Furthermore, FISH analyses on 7q31.33, 7q33 and 
      11p12 revealed differences between subcutaneous and visceral fat tissue. 
      Generally, the deletions were detected more frequent in visceral fat tissue. 
      Predominantly detected cn-LOH vs. CNV suggests a meaning of these cn-LOH for the 
      pathogenesis of obesity. We conclude that the SNP array and FISH analyses used is 
      applicable to generate more information for basic research on difficult cell 
      subpopulations (e.g., visceral adipose tissue) and could opens up new diagnostic 
      aspects in the field of obesity. Altogether, the significance of these mostly not 
      yet described genetic aberrations in different fat tissues needs to confirmed in 
      a larger series.
CI  - Copyright (c) 2024 Brandt, Holland, Bluher and Kloting.
FAU - Brandt, Vivian-Pascal
AU  - Brandt VP
AD  - Saxonian Incubator for Clinical Translation (SIKT), University of Leipzig, 
      Leipzig, Germany.
FAU - Holland, Heidrun
AU  - Holland H
AD  - Saxonian Incubator for Clinical Translation (SIKT), University of Leipzig, 
      Leipzig, Germany.
FAU - Bluher, Matthias
AU  - Bluher M
AD  - Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the 
      Helmholtz Zentrum Munchen at the University of Leipzig and University Hospital 
      Leipzig, Leipzig, Germany.
AD  - Medical Department III-Endocrinology, Nephrology, Rheumatology, University of 
      Leipzig Medical Center, Leipzig, Germany.
FAU - Kloting, Nora
AU  - Kloting N
AD  - Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the 
      Helmholtz Zentrum Munchen at the University of Leipzig and University Hospital 
      Leipzig, Leipzig, Germany.
AD  - Medical Department III-Endocrinology, Nephrology, Rheumatology, University of 
      Leipzig Medical Center, Leipzig, Germany.
LA  - eng
PT  - Journal Article
DEP - 20240307
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC10955090
OTO - NOTNLM
OT  - SNP array
OT  - adiposity
OT  - locusspecific FISH
OT  - obesity
OT  - subcutaneous fat tissue
OT  - visceral fat tissue
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2024/03/22 06:44
MHDA- 2024/03/22 06:45
PMCR- 2024/03/07
CRDT- 2024/03/22 04:05
PHST- 2023/10/17 00:00 [received]
PHST- 2023/12/15 00:00 [accepted]
PHST- 2024/03/22 06:45 [medline]
PHST- 2024/03/22 06:44 [pubmed]
PHST- 2024/03/22 04:05 [entrez]
PHST- 2024/03/07 00:00 [pmc-release]
AID - 1323052 [pii]
AID - 10.3389/fgene.2023.1323052 [doi]
PST - epublish
SO  - Front Genet. 2024 Mar 7;14:1323052. doi: 10.3389/fgene.2023.1323052. eCollection 
      2023.