OBJECTIVETo inquire into the relationship between lipoprotein lipase (LPL) gene D9N, N291S and S447X polymorphisms and the development of cardiovascular diseases in children with obesity.

METHODSThe polymerase chain reaction (PCR) and restriction fragment length polymorphism (RLFP) techniques were used to detect three common mutations of LPL gene exon D9N, N291S and S447X in 157 obese children and 175 normal controls. Plasma lipid and lipoprotein levels between children with different genotypes were compared.

RESULTSThe D9N and N291S gene mutations were not detected in either the obese or the control groups. There were no significant differences in the frequency of S447X gene mutation between the two groups. There were no significant differences in the levels of plasma lipid and lipoprotein between children with S447 and X447 genotypes.

CONCLUSIONSD9N and N291S gene mutations may not be risk factors associated with cardiovascular diseases in children with obesity. S447X gene mutation might not play an important role in the development of cardiovascular diseases in childhood.

Adolescent ; Cardiovascular Diseases ; etiology ; genetics ; Child ; Female ; Humans ; Lipoprotein Lipase ; genetics ; Male ; Mutation ; Obesity ; genetics ; Risk Factors

This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
Humans ; Infant ; Male ; Acute Disease ; Ascites ; Cholesterol ; Hyperlipoproteinemia Type I/genetics* ; Hyperlipoproteinemias ; Lipoprotein Lipase/genetics* ; Pancreatitis ; Triglycerides

OBJECTIVETo investigate the gene frequencies of 4 STR loci in Tibetan population of Yunnan.

METHODSMultiple polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining were used to detect D21S11, D8S1179, D16S539 and LPL loci. DNA samples collected from 105 unrelated Tibetan individuals in Yunnan province were analyzed.

RESULTSAt D21S11, D8S1179, D16S539 and LPL loci, 13, 8, 7, 6 alleles and 33, 21, 16 and 9 genotypes were observed, respectively. The genotype distribution of the 4 STR was in accordance with the Hardy-Weinberg equilibrium.

CONCLUSIONThe high combined discrimination power and exclusion power of the four loci in Tibetan population make multi-PCR detection a valuable tool for forensic identity, genetics and anthropology.

Alleles ; China ; DNA ; genetics ; Gene Frequency ; Genotype ; Humans ; Lipoprotein Lipase ; genetics ; Polymerase Chain Reaction ; methods ; Tandem Repeat Sequences ; genetics ; Tibet ; ethnology

OBJECTIVETo investigate whether lipoprotein lipase (LPL) gene Hind III polymorphism is associated with Chinese type IIb hyperlipoproteinemia.

METHODSLipoprotein lipase gene Hind III polymorphism was studied using polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP) in 103 type IIb hyperlipoproteinemia patients and 129 healthy subjects from a population of Chinese Hans in Chengdu area.

RESULTSBoth in type IIb hyperlipoproteinemia group and control group, the H+H+ homozygote was the major allelotype. The H+ allelic frequency of type IIb hyperlipoproteinemia group was higher than that of control group (0.864 vs 0.705, P<0.01). But the H- allelic frequency of type IIb hyperlipoproteinemia group was significantly lower than that of control group (0.136 vs 0.295, P<0.01). The plasma triglycerides (TG) level of H+H+ genotype was significantly higher than that of H+H- and H-H- genotypes (P<0.05 and P<0.01); the plasma TC level and TG/HDL C ratio were higher than those of H+H- and H-H- genotypes (P<0.05); apoA II levels of H+H+ and H+H- genotypes were significantly lower than that of H-H- genotype (P<0.01 and P<0.05).

CONCLUSIONThe Hind III RFLP at intron 8 of LPL gene is associated with type II b hyperlipoproteinemia to some extent in Chinese population.

Adult ; Aged ; Deoxyribonuclease HindIII ; Female ; Genotype ; Humans ; Hyperlipoproteinemia Type II ; genetics ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length

OBJECTIVETo investigate the association between haplotypes of S447X and Hind III polymorphisms of lipoprotein lipase (LPL) gene and serum lipids in a population-based twin cohort study in China.

METHODSTwin subjects were collected based on the twin registry system of China. All twins were investigated by a standard questionnaire and physical examinations. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the genotypes of S447X and Hind III polymorphisms. Linkage disequilibrium test and haplotypes were estimated between two polymorphisms.

RESULTSNine hundred and eighty-seven pairs of twins were eligible for analysis. The two polymorphisms of LPL gene were significantly linkage disequilibrium. In female twins, the H- allele of Hind III polymorphism was significantly related to lower levels of triglycerides(TG) and lower risk of high TG dislipidemia, but those associations disappeared after adjusting the polymorphism of S447X. The H- X haplotype of those two polymorphisms was significantly related to lower TG and TG/HDL (decreasing 12.9% and 14.9% respectively), as well as significantly to lower risk of high TG dislipidemia (OR = 0.40).

CONCLUSIONThe haplotypes of S447X and Hind III polymorphisms were significantly related to the favorable effect of lipids,but this effect was mostly determined by the polymorphism of S447X, while the effect of Hind III polymorphism was indirectly influenced by the linkage disequilibrium with S447X polymorphism.

Adult ; Female ; Haplotypes ; genetics ; Humans ; Linkage Disequilibrium ; genetics ; Lipids ; blood ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; genetics ; Twins ; blood ; genetics

OBJECTIVETo study the gain of chromosome 8 and c-myc gene and lipoprotein lipase gene status in prostatic adenocarcinoma of Chinese patients, and to analyze the relationship between chromosome 8 alterations and Gleason score of prostatic cancer.

METHODSFormalin-fixed, paraffin-embedded prostatic biopsy tissues from 34 Chinese patients with untreated prostatic adenocarcinoma were studied by three-color fluorescence in situ hybridization (FISH) using ProVysion(TM) probe kit. The materials included 1 case with Gleason score 5, 10 cases with Gleason score 6, 14 cases with Gleason score 7, 4 cases with Gleason score 8 and 5 cases with Gleason score 9. The relationship between Gleason score and chromosome 8 aneusomy, c-myc and lipoprotein lipase gene copy number, including gene amplification or deletion, were analyzed.

RESULTSSeventeen (50%) of the 34 cases studied had gain of chromosome 8, while 21 cases (61.8%) had gain of c-myc gene copy number, 15 cases (44.1%) had lipoprotein lipase gene monosomy, 23 cases (67.6%) had c-myc gene amplification, 21 cases (61.8%) had deletion of lipoprotein lipase gene and 16 cases (47.1%) had lipoprotein lipase gene deletion coupled with c-myc gene amplification. In general, at least one type of chromosome 8 alteration was identified in 85.3% of cases (29/34). Gain of chromosome 8 was strong significant associated with Gleason score (P = 0.0006). A positive correlation between increased c-myc copy number and high Gleason score was also noted (P = 0.0035). On the other hand, loss of lipoprotein lipase gene was negatively correlated with high Gleason score (P = 0.0383). In addition, the association of c-myc gene amplification with high Gleason score was noted after age adjustment (P = 0.0462).

CONCLUSIONSAlterations in chromosome 8 are common in prostatic adenocarcinoma occurring in Chinese patients. There is a correlation between Gleason score and gain of chromosome 8, increased c-myc gene copy number, c-myc gene amplification and lipoprotein lipase gene deletion. C-myc gene amplification accompanied by lipoprotein lipase gene deletion is also a common occurrence in prostatic cancer. Our data suggest that chromosome 8 alterations may play some roles in the development and progression of prostatic adenocarcinoma.

Adenocarcinoma ; classification ; genetics ; pathology ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosomes, Human, Pair 8 ; genetics ; Gene Deletion ; Gene Dosage ; Humans ; In Situ Hybridization, Fluorescence ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Prostatic Neoplasms ; classification ; genetics ; pathology ; Proto-Oncogene Proteins c-myc ; genetics

OBJECTIVETo assess the association of S447X mutation and Hind III polymorphism in the lipoprotein lipase gene with dyslipidemia of the metabolic syndrome in patients with essential hypertension.

METHODSA total of 983 patients were randomly selected from those with hypertension (diagnosed in the Community-based Comprehensive Studies on Prevention and Control of Hypertension Project in China) and those not treated with anti-hypertensive medications for at least in 2 weeks immediately before blood collection. Among them were 389 subjects with dyslipidemia and 594 subjects without dyslipidemia. The definition of dyslipidemia in patients with hypertension was used only when triglyceride or HDL-cholesterol was at abnormal level. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine Ser447stop mutation and Hind III polymorphism in LPL gene.

RESULTSLinkage disequilibrium between the two sites was observed, with three major haplotypes identified: H+S, H-S, and H-X. The LPL gene S447X mutation and H-X haplotype were significantly associated with dyslipidemia (OR=0.547, 95%CI: 0.348-0.859 for S447X mutation; OR=0.537, 95%CI: 0.328-0.880 for H-X haplotype) in male, both by themselves and after adjustment for age, body mass index, smoking, alcohol intake, systolic blood pressure, diastolic blood pressure, education and serum glucose. The LPL H- carriers and H-S haplotype were significantly associated with dyslipidemia (OR=0.575, 95%CI: 0.358-0.923) in female after multivariate adjustment. Moreover, compared with the H+S haplotype, the H-X haplotypes were associated with significantly lower TG and Log (TG/HDL-C) levels in both men and women, and with higher HDL-C levels in women; whereas no significant difference was observed between the H-S and H+S haplotype. Compared with the H-S haplotype, the H-X haplotypes had significant effect on the HDL-C levels in women.

CONCLUSIONThe LPL H-X haplotype was one of the protective factors of dyslipidemia of metabolic syndrome in hypertensive patients. It is significantly associated with low triglyceride, log triglyceride-to-HDL-cholesterol ratio and high HDL-cholesterol levels. S447X mutation does not explain all the effect associated with the Hind III polymorphism, although the effect on serum lipids associated with the H-X haplotype appeared to be mainly mediated by the S447X mutation. It is possible that some functional mutations in the LPL gene besides the S447X mutation are in linkage disequilibrium with the Hind III polymorphism.

Aged ; Cholesterol, HDL ; blood ; Dyslipidemias ; blood ; complications ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Haplotypes ; Humans ; Hypertension ; complications ; Linkage Disequilibrium ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Triglycerides ; blood

OBJECTIVETo investigate the relationship between lipoprotein lipase (LPL) gene Ser447Ter polymorphism and atherosclerotic cerebral infarction (CI), and to investigate the effect of Ser447Ter polymorphism on plasma lipids, carotid intima-media thickness (IMT) and carotid artery plaque (CAP) in patients with CI.

METHODSPCR-restriction fragment lengh polymorphism (PCR-RFLP) technique was used to detect LPL gene Ser447Ter polymorphism in 166 patients with CI (CI group) and 72 healthy subjects (control group). Carotid IMT and CAP were measured with carotid color ultrasonographic doppler for the patients and the controls.

RESULTSCG+GG carriers had lower plasma triglyceride (TG) levels and higher high density lipoprotein cholesterol (HDL-C) levels than CC carriers in CI group (P=0.001 and P=0.007 respectively). CG+GG carriers had lower plasma TG levels than CC carriers in control group (P=0.041). The frequency of G allele in CI patients was significantly lower than that in control subjects (P= 0.014). There was no statistical correlation between LPL Ser447Ter gene polymorphism and carotid IMT and CAP.

CONCLUSIONThe Ser447Terls polymorphism of LPL gene is significantly associated with plasma lipids and CI. G allele genotype may lead to decrease of plasma TG and increase of plasma HDL-C. G allele may be a protective genotype of CI.

Adult ; Aged ; Alleles ; Cerebral Infarction ; blood ; genetics ; pathology ; Cholesterol, HDL ; blood ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Triglycerides ; blood

OBJECTIVETo investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to inquire into the relationship between these polymorphisms in LPL gene and CHD.

METHODSGenomic DNA was extracted from patients with CHD and normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method.

RESULTSA novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P > 0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/lowed plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidemia (P < 0.05).

CONCLUSIONNo direct association was found between the LPL Arg192-->Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/lowed high density lipoprotein cholesterol. This study may provide new data for exploring the molecular mechanism of CHD.

Alleles ; Apolipoproteins ; blood ; Cholesterol, HDL ; blood ; Chromatography, High Pressure Liquid ; methods ; Coronary Disease ; blood ; enzymology ; genetics ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Gene Frequency ; Humans ; Hypertriglyceridemia ; blood ; genetics ; Lipoprotein Lipase ; genetics ; Lipoproteins ; blood ; Polymorphism, Genetic

OBJECTIVETo investigate the role of lipoprotein lipase (LPL) gene on Chinese patients with hypertriglyceridemic type 2 diabetes.

METHODSThree subject groups, including hypertriglyceridemic group, normalipidemic type 2 diabetes group and healthy controls, were recruited and screened for sequence changes in LPL gene with PCR, SSCP, restriction analysis and direct DNA sequencing. LPL mass and activity in post-heparin plasma and in in vitro expression were investigated. Comparative modeling was performed via Swiss-PDB Viewer to provide the potential 2-D structures of wildtype and mutant proteins.

RESULTSFour missense mutations, Ala71Thr, Val18Ile, Gly188Glu and Glu242Lys, were identified in patients with hypertriglyceridemic type 2 diabetes, and not in both normalipidemic diabetes and the control subjects. The four missense mutations were located in the highly conserved amino acid sites, which are involved in highly conserved exon 3, 5, or 6 regions. They led to reduced LPL mass and enzyme activities in both post-heparin plasma and in vitro expression. The modeled structures displayed the differences to a great extent between the mutant and wide-type molecules.

CONCLUSIONThese results indicated that the 4 missense mutations lead to LPL deficiency and subsequent hypertriglyceridemia. The LPL deficiency predispose a progressive diabetic pathway to those affected individuals. LPL gene is one of susceptibility gene for hypertriglyceridemic type 2 diabetes.

Asian Continental Ancestry Group ; Diabetes Mellitus, Type 2 ; complications ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Hypertriglyceridemia ; complications ; enzymology ; genetics ; Lipoprotein Lipase ; genetics ; Male ; Middle Aged ; Mutation, Missense ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational