PMID- 12408999
OWN - NLM
STAT- MEDLINE
DCOM- 20030619
LR  - 20221207
IS  - 0014-2999 (Print)
IS  - 0014-2999 (Linking)
VI  - 454
IP  - 1
DP  - 2002 Nov 1
TI  - Single-nucleotide polymorphisms in the lipoprotein lipase gene associated with 
      coronary heart disease in Chinese.
PG  - 9-18
AB  - Coronary heart disease is a complex disease reflecting the interaction of 
      multiple genes with the environment (e.g. diet, life style). Lipoprotein lipase 
      (LPL) plays an important role in lipid metabolism and the pathogenesis of 
      coronary atherosclerosis. Recent associations between single-nucleotide 
      polymorphisms in the LPL gene and heart disease have been reported, but little is 
      known in Chinese. The LPL gene spans >26 kb, with an mRNA of 3549 bp. In the 
      present study, we screened 5155 bp (565 bp of 5' flanking region, nine exons and 
      donor- and acceptor-splice sites, and some intronic bases) in 160 Chinese 
      patients with confirmed coronary heart disease and 150 age- and gender-matched 
      controls. Thirteen of the sixteen single-nucleotide polymorphisms that we found 
      have not been previously reported. In males, significant (P<0.05) differences 
      between the coronary heart disease patients and controls were found for five 
      single-nucleotide polymorphisms: -421G>A (5' flanking region); +13,577C>A (intron 
      2); +16,052G>A, R192Q (exon 5); +16,173C>G and +16,177T>C (intron 5). In females, 
      significant differences between the patients with coronary heart disease and 
      controls were found for only the -421G>A and +16,052G>A (R192Q) mutations. Among 
      the coronary heart disease males, significant (P<0.05) associations were found 
      between the low-HDL high-triglyceride (LHDL/HTG) phenotype and the non-LHDL/HTG 
      trait for the 5' flanking-421G, the intron 2+13,577C, and the exon 5+16,052G 
      mutations, with odds-ratios (ORs)[confidence intervals] of 3.90[1.12-13.66], 
      3.38[1.22-9.40], and 3.22[1.04-10.01], respectively; no corresponding 
      associations were found in females. There were 69, 51, 57 and 41 unphased 
      haplotype patterns in male coronary heart disease, male control, female coronary 
      heart disease and female control groups, respectively; the computer program 
      PM-Plus found the heterogeneity model by far the best fit (P<0.0001 in males, 
      >0.01 in females). These data show that some single-nucleotide polymorphisms in 
      the LPL gene among Chinese are associated with abnormal lipid and lipoprotein 
      profiles and predisposition to coronary heart disease, a genetically 
      heterogeneous complex disease, and that they are gender-specific.
FAU - Su, Zhi G
AU  - Su ZG
AD  - Department of Medical Genetics, West China Hospital, Sichuan University, Sichuan, 
      Chengdu 610041, China.
FAU - Zhang, Si Z
AU  - Zhang SZ
FAU - Hou, Yi P
AU  - Hou YP
FAU - Li, T
AU  - Li T
FAU - Nebert, Daniel W
AU  - Nebert DW
FAU - Zhang, L
AU  - Zhang L
FAU - Huang, De J
AU  - Huang DJ
FAU - Liao, Lin C
AU  - Liao LC
FAU - Xiao, Cui Y
AU  - Xiao CY
LA  - eng
GR  - P30 ES06096/ES/NIEHS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Netherlands
TA  - Eur J Pharmacol
JT  - European journal of pharmacology
JID - 1254354
RN  - 0 (Apolipoproteins)
RN  - 0 (Lipoproteins)
RN  - EC 3.1.1.34 (Lipoprotein Lipase)
SB  - IM
MH  - Adult
MH  - Apolipoproteins/blood
MH  - Asian People/*genetics
MH  - China
MH  - Chromatography, High Pressure Liquid
MH  - Coronary Disease/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Haplotypes
MH  - Humans
MH  - Lipoprotein Lipase/*genetics
MH  - Lipoproteins/blood
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
MH  - Sex Factors
EDAT- 2002/11/01 04:00
MHDA- 2003/06/20 05:00
CRDT- 2002/11/01 04:00
PHST- 2002/11/01 04:00 [pubmed]
PHST- 2003/06/20 05:00 [medline]
PHST- 2002/11/01 04:00 [entrez]
AID - S0014299902024275 [pii]
AID - 10.1016/s0014-2999(02)02427-5 [doi]
PST - ppublish
SO  - Eur J Pharmacol. 2002 Nov 1;454(1):9-18. doi: 10.1016/s0014-2999(02)02427-5.