PMID- 22215535
OWN - NLM
STAT- MEDLINE
DCOM- 20120514
LR  - 20230131
IS  - 1521-6551 (Electronic)
IS  - 1521-6543 (Linking)
VI  - 64
IP  - 2
DP  - 2012 Feb
TI  - Association of nonalcoholic fatty liver disease with a single nucleotide 
      polymorphism on the gene encoding leptin receptor.
PG  - 180-6
LID - 10.1002/iub.597 [doi]
AB  - Leptin (Lep), a 16-kDa polypeptide hormone, exerts its action through the leptin 
      receptor (LepRb), a member of the class I cytokine receptor family. Both leptin 
      and LepRb probably have been implicated in pathogenesis of nonalcoholic fatty 
      liver disease (NAFLD). This study was designed to assess the role of soluble 
      leptin and LepRb in NAFLD and to investigate whether leptin receptor gene (LepR) 
      single nucleotide polymorphism (SNP; ID rs6700896) influences NAFLD complicated 
      with or without type 2 diabetes mellitus (T2DM). Blood samples from 90 obese 
      NAFLD cases and 30 lean controls of matched age and sex were recruited in the 
      study. Among the NAFLD patients, 32 were T2DM. Plasma leptin and LepRb levels 
      were measured by enzyme linked immunoassay (ELISA). Lipids profile, glucose 
      metabolic parameters, and insulin concentration were measured for all 
      participants. Body mass index (BMI) and insulin resistance (IR) were calculated 
      as well. Genotyping was done using SNP (rs6700986) for LepR gene. Significant 
      difference was reported between NAFLD with or without T2DM and control regarding 
      biochemical markers and LepR genotype and allele frequencies. Mutant homozygous 
      and heterozygous LepR genotype and mutant allele were significantly higher in 
      mild-severe steatosis and in NAFLD with T2DM when compared with mild steatosis 
      and those without T2DM. Frequencies of mutant LepR polymorphism were 
      significantly associated with IR increment. Elevated leptin level seems to be a 
      feature of steatosis, and it appears to increase as hepatocyte steatosis 
      develops. Moreover, polymorphism of LepR gene contributes to the onset of NAFLD 
      by regulating lipid metabolism and affecting insulin sensitivity.
CI  - Copyright (c) 2011 Wiley Periodicals, Inc.
FAU - Swellam, Menha
AU  - Swellam M
AD  - Genetic Engineering and Biotechnology Research Division, Department of 
      Biochemistry, National Research Center, Dokki, Giza, Egypt. 
      menha_m_swellam@hotmail.com
FAU - Hamdy, Nadia
AU  - Hamdy N
LA  - eng
PT  - Journal Article
DEP - 20120103
PL  - England
TA  - IUBMB Life
JT  - IUBMB life
JID - 100888706
RN  - 0 (Protein Isoforms)
RN  - 0 (Receptors, Leptin)
SB  - IM
EIN - IUBMB Life. 2023 Feb;75(2):181. PMID: 36719049
MH  - Case-Control Studies
MH  - Fatty Liver/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genotype
MH  - Humans
MH  - Logistic Models
MH  - Male
MH  - Middle Aged
MH  - Multivariate Analysis
MH  - Non-alcoholic Fatty Liver Disease
MH  - *Polymorphism, Single Nucleotide
MH  - Protein Isoforms/genetics
MH  - Receptors, Leptin/*genetics
EDAT- 2012/01/05 06:00
MHDA- 2012/05/15 06:00
CRDT- 2012/01/05 06:00
PHST- 2011/08/12 00:00 [received]
PHST- 2011/09/29 00:00 [accepted]
PHST- 2012/01/05 06:00 [entrez]
PHST- 2012/01/05 06:00 [pubmed]
PHST- 2012/05/15 06:00 [medline]
AID - 10.1002/iub.597 [doi]
PST - ppublish
SO  - IUBMB Life. 2012 Feb;64(2):180-6. doi: 10.1002/iub.597. Epub 2012 Jan 3.