PMID- 16333525
OWN - NLM
STAT- MEDLINE
DCOM- 20061005
LR  - 20211214
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 51
IP  - 2
DP  - 2006
TI  - Polymorphisms in the leptin receptor (LEPR)--putative association with obesity 
      and T2DM.
PG  - 85-91
LID - 10.1007/s10038-005-0327-8 [doi]
AB  - Leptin plays an important role in regulating adipose-tissue mass. Leptin controls 
      energy balance and food intake through the leptin receptor in the hypothalamus of 
      the brain, which suggests that some polymorphisms of the leptin receptor gene 
      (LEPR) might contribute to obesity or obesity-related diseases. In an effort to 
      identify genetic polymorphisms in a potential candidate gene for obesity and type 
      2 diabetes mellitus (T2DM) in the Korean population, we have sequenced the LEPR 
      gene. Thirty-five sequence variants were identified (including 9 novel 
      polymorphisms): 1 single nucleotide polymorphism (SNP) in the promoter region, 1 
      SNP in the 5' UTR, 8 SNPs in exons (3 non-synonymous SNPs), 23 SNPs in introns, 1 
      ins/del in the 3' UTR, and 1 SNP in the 3' downstream region. To investigate 
      possible association of LEPR polymorphisms with body mass index (BMI) and the 
      risk of T2DM, we genotyped for 11 polymorphisms in the Korean population (n = 
      1,463). Using statistical analyses, no significant associations between the 
      genetic polymorphisms in the LEPR gene and the risk of T2DM were detected. 
      However, one non-synonymous SNP in exon 3, +5193G > A (Arg109Lys), showed 
      marginal association with BMI (P = 0.02) and gene dose-dependent genetic effects 
      were observed. The present study provides information about additional genetic 
      polymorphisms in LEPR and positive associations of those polymorphisms with BMI 
      in the Korean population.
FAU - Park, Kyong Soo
AU  - Park KS
AD  - Genome Research Center for Diabetes and Endocrine Disease, Clinical Research 
      Institute, Seoul National University Hospital, Department of Internal Medicine, 
      Seoul National University College of Medicine, 110-744, Seoul, Korea.
FAU - Shin, Hyoung Doo
AU  - Shin HD
AD  - Department of Genetic Epidemiology, SNP Genetics, Rm 1407, 14th floor, B-dong, 
      WooLim Lion's Valley, 371-28, Gasan-dong, Geumcheon-Gu, 153-803, Seoul, Korea.
FAU - Park, Byung Lae
AU  - Park BL
AD  - Department of Genetic Epidemiology, SNP Genetics, Rm 1407, 14th floor, B-dong, 
      WooLim Lion's Valley, 371-28, Gasan-dong, Geumcheon-Gu, 153-803, Seoul, Korea.
FAU - Cheong, Hyun Sub
AU  - Cheong HS
AD  - Department of Genetic Epidemiology, SNP Genetics, Rm 1407, 14th floor, B-dong, 
      WooLim Lion's Valley, 371-28, Gasan-dong, Geumcheon-Gu, 153-803, Seoul, Korea.
FAU - Cho, Young Min
AU  - Cho YM
AD  - Genome Research Center for Diabetes and Endocrine Disease, Clinical Research 
      Institute, Seoul National University Hospital, Department of Internal Medicine, 
      Seoul National University College of Medicine, 110-744, Seoul, Korea.
FAU - Lee, Hong Kyu
AU  - Lee HK
AD  - Genome Research Center for Diabetes and Endocrine Disease, Clinical Research 
      Institute, Seoul National University Hospital, Department of Internal Medicine, 
      Seoul National University College of Medicine, 110-744, Seoul, Korea.
FAU - Lee, Jong-Young
AU  - Lee JY
AD  - National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, 
      Eunpyung-ku, 122-701, Seoul, Korea.
FAU - Lee, Jong-Keuk
AU  - Lee JK
AD  - National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, 
      Eunpyung-ku, 122-701, Seoul, Korea.
FAU - Oh, Bermseok
AU  - Oh B
AD  - National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, 
      Eunpyung-ku, 122-701, Seoul, Korea.
FAU - Kimm, Kuchan
AU  - Kimm K
AD  - National Genome Research Institute, National Institute of Health, 5 Nokbun-dong, 
      Eunpyung-ku, 122-701, Seoul, Korea. k2kimm2@nih.go.kr.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20051207
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (LEPR protein, human)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (Receptors, Leptin)
SB  - IM
MH  - Aged
MH  - Base Sequence
MH  - Body Mass Index
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Korea
MH  - Male
MH  - Middle Aged
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Obesity/*genetics
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Receptors, Cell Surface/*genetics
MH  - Receptors, Leptin
MH  - Regression Analysis
MH  - Sequence Analysis, DNA
EDAT- 2005/12/08 09:00
MHDA- 2006/10/06 09:00
CRDT- 2005/12/08 09:00
PHST- 2005/08/24 00:00 [received]
PHST- 2005/10/06 00:00 [accepted]
PHST- 2005/12/08 09:00 [pubmed]
PHST- 2006/10/06 09:00 [medline]
PHST- 2005/12/08 09:00 [entrez]
AID - 10.1007/s10038-005-0327-8 [pii]
AID - 10.1007/s10038-005-0327-8 [doi]
PST - ppublish
SO  - J Hum Genet. 2006;51(2):85-91. doi: 10.1007/s10038-005-0327-8. Epub 2005 Dec 7.