OBJECTIVETo investigate the Arg16Gly polymorphism of beta2-adrenergic receptor (beta2AR) gene and its association with endogenous hypertriglyceridemia (HTG) in Chinese population.

METHODSThree hundred and forty one subjects including 100 HTG patients and 241 healthy controls from a population of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs).

RESULTSThe frequencies of Gly allele at the Arg16Gly locus in combined group was 0.446, and were 0.427 and 0.490 in normal and HTG group, respectively. No significant difference was found in both allele and genotype frequencies between normal control and HTG group. The frequency of Gly allele at the Arg16Gly locus in beta2-adrenergic receptor gene in the population (0.446) was similar to that of Japanese (0.505), higher than that of American white(0.248), and lower than that of Polish population (0.633). In normal controls, subjects with genotype Arg/Arg had a higher concentration of serum TG and apoB100, and lower apoAII levels, when compared with those with genotypes Arg/Gly or Gly/Gly, respectively (vs. Arg/Gly for TG, vs. Gly/Gly for apoB100 and apoAII, respectively, P<0.05). In HTG group, subjects with genotype Arg/Arg had higher serum TC and low-density lipoprotein cholesterol levels when compared with those with Gly/Gly genotype (5.36+/-0.74 mmol/L vs. 4.77+/-1.07 mmol/L,P<0.05;3.03+/-0.70 mmol/L vs. 2.38+/-1.10 mmol/L,P<0.05).

CONCLUSIONThese results suggest that the Arg16Gly polymorphism in beta2-adrenergic receptor gene are not only associated with serum TG,apoB100 and apoAII levels in the healthy Chinese subjects in Chengdu area, but also with serum TC and low-density lipoprotein cholesterol levels in subjects with endogenous hypertriglyceridemia. The Arg16Gly polymorphism in beta2-adrenergic receptor gene may be associated with TG and/or cholesterol metabolism in Chinese Han population.

Adult ; Aged ; Apolipoprotein B-100 ; blood ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertriglyceridemia ; blood ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Adrenergic, beta-2 ; genetics ; Triglycerides ; blood

OBJECTIVETo assess the allele and genotype frequencies of the estrogen receptor alpha ( ESR alpha) Pvu II and Xba I polymorphisms in patients with severe preeclampsia and compare them with those of normal pregnant women.

METHODSBlood samples from 131 patients with severe preeclampsia and 223 normal pregnant women from Chinese Han in Chengdu area were analyzed, using PCR-RFLP method. Pregnant patients with blood pressure exceeding 140/90 mmHg (or 18.7/12 kPa) were recruited with a strict definition of preeclampsia. Genotyping was performed using PCR-RFLP for Pvu II and Xba I polymorphisms in the ESR alpha gene.

RESULTSThe T and C allele frequencies for Pvu II site were 0.580 and 0.420 in the patient group, and 0.576 and 0.424 in the controls, respectively. The A and G allele frequencies for Xba I site were 0.763 and 0.237 in the patient group, and 0.807 and 0.193 in control group, respectively. No significant difference in the allele frequencies of either site was observed between the two groups. However, the CC homozygotes or CT heterozygotes in the control pregnant women had higher systolic blood pressure levels than TT homozygotes for Pvu II site after the data was adjusted for age and BMI (114.00+/-21.44 mmHg or 114.33+/-1.21 mmHg vs. 108.62+/-1.91 mmHg, P<0.05). No genotype effect on the blood pressures was found for Pvu II site in the case group, nor for Xba I site in either group.

CONCLUSIONOur work has excluded the association of the ESRalpha Pvu II and Xb I polymorphism with severe preeclampsia in a Southwest Chinese population, although this polymorphism may be associated with the systolic blood pressure level in the normal pregnant women.

Adult ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Deoxyribonucleases, Type II Site-Specific ; metabolism ; Estrogen Receptor alpha ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Polymorphism, Genetic ; Pre-Eclampsia ; genetics ; pathology ; Pregnancy

OBJECTIVETo construct an apparatus for the oxygen uptake measurement of rats exposed to hypobaric hypoxia at different simulated altitude.

METHODSThe capacity of this apparatus was about 0.01 m3. It included animal experimental cabin, reference cabin, altimeter, altitude vertical velocity indicator, pressure difference inductor and oxygen compensator, low scale manometer, soda lime and calcium chloride, small fan, thermometer, circulating water system and vacuum pump. The oxygen uptake of the rats at 6 000 m, 4 000 m and 1 000 m simulated altitude was measured using this apparatus.

RESULTSThe oxygen uptake of the rats at 50 m, 4 000 m and 6 000 m simulated altitude was (24.4 +/- 2.1), (10.8 +/- 2.0) and (8.8 +/- 1.6) ml O2/(kg x min) respectively (average +/- s, n = 10). The oxygen uptake decreased as altitude increased.

CONCLUSIONThis apparatus can be used to measure the oxygen uptake of the rats at different simulated altitude.

Altitude ; Altitude Sickness ; physiopathology ; Animals ; Computer Simulation ; Equipment and Supplies ; Hypoxia ; physiopathology ; Male ; Oxygen ; metabolism ; Oxygen Consumption ; physiology ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo investigate the G-protein beta 3 subunit (GNB3) gene 825C/T polymorphism and its relationship to obesity in Chinese population.

METHODSThree hundred and ninety nine subjects (270 non-obese and 129 obese individuals) from a population of Chinese Han nationality in Chengdu area were studied using PCR-restriction fragment length polymorphisms (PCR-RFLPs). Serum lipids were measured by enzymatic kits and apolipoproteins A I, A II, B100, C II, C III and E were measured by RID kits.

RESULTSThe frequencies of C and T alleles at the 825C/T site in obese and non-obese groups were 0.531 and 0.469, and 0.528 and 0.472, respectively. It showed no significant difference in both genotypes and allele frequencies between the non-obese and obese groups (P> 0.05). The frequency of T allele at 825C/T site in GNB3 gene in the population (0.471) was significantly higher than that of German white (0.319), lower than that of African black (0.788), and similar to that of Japanese (0.487). In the non-obese group, subjects with genotype TT had higher serum triglyceride(TG) concentrations than those with genotype CT (P< 0.05). In the obese group, subjects with genotype CC had lower serum high-density lipoprotein cholesterol(HDL-C) levels than those with CT genotype (P< 0.05). Similar results were only observed in non-obese male and obese female subgroups, respectively, when male and female subgroups were further separated in the two groups. In addition, non-obese males with genotype TT and obese females with genotype CC had lower HDL-C and higher apoA I levels than those with genotype CT, respectively. Obese males with genotype TT had higher apoA I levels than those with genotype CC.

CONCLUSIONThe 825C/T polymorphism in the GNB3 gene was not associated with obesity in Chinese Han population of Chengdu area. However, it may be associated with serum triglyceride, HDL-C and apoAI levels, with some gender-specific effect, in this population.

Adult ; Aged ; Aged, 80 and over ; Apolipoproteins ; blood ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Heterotrimeric GTP-Binding Proteins ; genetics ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Obesity ; blood ; genetics ; Polymorphism, Single Nucleotide ; Sex Factors

OBJECTIVETo investigate the effects of the -384A>C polymorphism in the promoter region of endothelial lipase (EL) gene on serum lipid and apolipoprotein levels in healthy normolipidemic (HTG) and endogenous hypertriglyceridemic (HTG) subjects.

METHODSTwo hundred and fourteen healthy normolipidemic and 103 endogenous hypertriglyceridemic subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLPs). Serum lipids were measured by enzymatic kits and apolipoproteins AI, AII, B100, CII, CIII and E were measured by the radial immunadiffussion kits.

RESULTSThe frequency of the C allele at the -384A>C site in EL gene in the population (0.178) was higher than that of Japanese population (0.119) and Japanese Americans (0.115) (P < 0.01 and P < 0.01), respectively. No significant difference between normolipidemic and HTG groups was found in both allele and genotype frequencies. In normal group, subjects of the C allele carriers (A/C and C/C genotype carriers) had a higher serum mean concentration of TC, LDL-C and nHDL-C when compared with those of genotype AA (5.23 +/- 0.74 mmol/L vs 4.93 +/- 0.74 mmol/L, P=0.025; 3.27 +/- 0.74 mmol/L vs 2.98 +/- 0.80 mmol/L, P=0.038; 3.81 +/- 0.73 mmol/L vs 3.49 +/- 0.85 mmol/L, P=0.031, respectively). Similar result was only observed in female subgroup when male and female subgroups were further separated. No significant changes of lipid and lipoprotein levels were observed in the polymorphism in HTG group.

CONCLUSIONThese results suggest that the -384A>C polymorphism in the promoter region of the endothelial lipase gene is associated with serum TC, LDL-C, and nHDL-C levels in healthy Chinese subjects in Chengdu area, but not associated with the lipid levels in the endogenous hypertriglyceridmic group.

Adult ; Aged ; Aged, 80 and over ; Alleles ; Apolipoproteins C ; genetics ; Asian Continental Ancestry Group ; genetics ; Female ; Gene Frequency ; Humans ; Hypertriglyceridemia ; genetics ; Lipase ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Population Groups ; genetics ; Promoter Regions, Genetic ; genetics ; Triglycerides ; blood ; Young Adult

OBJECTIVETo investigate effects of GSTM1 and GSTT1 gene polymorphisms on serum lipid and apopoprotein levels in healthy normolipidemic and endogenous hypertriglyceridemic subjects.

METHODSTwo hundred and thirty-seven healthy normolipidemic and 102 endogenous hypertriglyceridemic subjects from a population of Chinese Han nationality in Chengdu area were studied using the multiplex polymerase chain reaction (PCR). Serum lipids were measured by enzymatic kits and apolipoproteins AⅠ, AⅡ, B100, CⅡ, CⅢ and E were measured by the RID kits.

RESULTSThe non-null and null genotype frequencies for GSTM1 site were 39.2% and 60.8% in the control group, respectively, and 47.6% and 52.4% in the HTG group, respectively. The non-null and null genotype frequencies for GSTT1 site were 51.5% and 48.5% in the control group, respectively, and 57.3% and 42.7% in the HTG group, respectively. The GSTM1 and GSTT1 genotype frequencies in HTG subjects were not different from those in the controls, respectively (P>0.05). However, in control group subjects with both null genotypes (GSTT1- and GSTM1-) showed the lowest plasma HDL-C levels (1.29±0.30 mmol/L), whereas those with each of the other three genotype combinations showed relatively higher HDL-C levels. There was significant difference of HDL-C levels between subjects with GSTT1-/GSTM1-and those with GSTT1+/GSTM1-(P<0.05). Similar result was not observed in HTG group. No significant changes of lipid and lipoprotein levels were observed in either GSTM1 or GSTT1 polymorphism alone in control or HTG group.

CONCLUSIONThe present study provides an evidence that the presence of double deletion genotypes is associated with low HDL-cholesterol levels in normal Chinese subjects. However, these polymorphisms are not associated with lipid levels in endogenous hypertriglyceridemia in Chinese population of Chengdu area.

OBJECTIVETo investigate the relationship between two polymorphisms immediately upstream of the cyclooxygenase 2 (COX2) gene and preeclampsia in a South West Han Chinese population.

METHODSBlood samples from 205 patients with preeclampsia and 276 normal pregnant women as controls from Han Chinese in Chengdu area were analyzed by polymerase chain reaction-restriction fragment length polymorphisms.

RESULTSG and A allele frequencies for -1195G>A site were 48.54% and 51.46% in the patient group, respectively, and 40.40% and 59.60% in the control group, respectively. G and C allele frequencies for -765G>C site were 94.15% and 5.85% in the case group, respectively, and 94.38% and 5.62% in the control group, respectively. The AA genotype and variant A allelic frequencies of the -1195G>A SNP were significantly lower in patients with preeclampsia than in the control group (P<0.05), and the odds ratio for the risk of preeclampsia was 0.665 (95% CI: 0.444-0.982) in women homozygous for the variant COX2 A allele ( x²=4.233, P=0.047). The genotype and allele frequencies of the -765G>C polymorphism in patients with preeclampsia and controls showed no significant differences (P>0.05). Additional subgroup analyses (mild vs severe preeclampsia) of the two polymorphisms failed to reveal significant correlation for either genotypic or allelic frequencies. Furthermore, there was no significant association between the polymorphisms and blood pressure levels in the patient or control groups.

CONCLUSIONCOX2 -1195A homozygosity is associated with a decreased risk for preeclampsia in a South West Han Chinese population. On the other hand, the -765G>C polymorphism has no effect.

Adult ; Alleles ; Blood Pressure ; Case-Control Studies ; China ; Cyclooxygenase 2 ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide ; Pre-Eclampsia ; enzymology ; genetics ; physiopathology ; Pregnancy ; Risk Factors

OBJECTIVETo investigate the relationship between polymorphisms of the growth arrest specific 6 (GAS6) gene and severe preeclampsia in a South West Han Chinese population.

METHODSBlood samples from 167 patients with severe preeclampsia and 312 normal pregnant women as controls from Han Chinese in Chengdu area were analyzed by polymerase chain reaction-restriction fragment length polymorphisms.

RESULTSC and T allele frequencies for +1332C/T site were 85.63% and 14.37% in the patient group, respectively, and 78.04% and 21.96% in control group, respectively. The TT genotype and variant T allelic frequencies of the +1332C/T polymorphism were significantly lower in patients with severe preeclampsia than in the control group (both P<0.05), and the odds ratio for the risk of severe preeclampsia was 0.602 (95%CI: 0.401-0.904) in carriers for the variant T allele (χ=6.045, P=0.014). G and A allele frequencies for 834+7G/A site were 72.75% and 27.25% in case group, respectively, and 74.36% and 25.64% in control group, respectively. The genotype and allele frequencies of the 834+7G/A polymorphism in patients with severe preeclampsia and controls showed no significant differences (both P>0.05). In addition, there was no significant association between the polymorphisms and blood pressure levels in the patient or control groups.

CONCLUSIONThe variant GAS6+1332 T allele is associated with a decreased risk for severe preeclampsia in a South West Han Chinese population. On the other hand, the 834+7G/A polymorphism has no effect on the severe preeclampsia.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotype ; Humans ; Intercellular Signaling Peptides and Proteins ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Pre-Eclampsia ; ethnology ; genetics ; pathology ; Pregnancy ; Risk Factors ; Severity of Illness Index ; Young Adult

OBJECTIVETo investigate the -3826A/G polymorphism in the promoter of the uncoupling protein-1 (UCP1) gene and its relations to obesity in Chinese population.

METHODSThree hundred and eighty-four subjects (257 non-obese and 127 obese individuals) from a population of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs). Serum lipids were measured by enzymatic kits and apolipoproteins A I, A II, B100, C II, C III and E were measured by the RID kits.

RESULTSThe frequencies of A and G alleles at -3826A/G site in obese and non-obese groups were 0.508 and 0.492, and 0.467 and 0.533, respectively. It showed no significant difference in allele frequencies between non-obese and obese groups (P > 0.05). In the obese group, subjects with genotype GG had higher serum apo B100 concentrations, and those with genotype AG had higher apo C II and apo C III levels, than those with genotype AA, respectively (P < 0.05). In non-obese male subgroup, subjects with genotype GG had lower serum HDL-C and apo A I levels than those with genotype AA, respectively (P < 0.05), whereas those with genotype AG had lower apo A II levels than those with genotype AA. In addition, in obese males with genotype GG had elevated apo B100 levels compared with those with genotype AA, whereas in obese females with genotype GG had decreased apo AI levels and genotype AG had increased apo C II and apo C III levels compared with those with genotype AG and AA, respectively (P < 0.05).

CONCLUSION-3826A/G polymorphism in the promoter of the uncoupling protein-1 gene was not associated with obesity in Chinese Han population of Chengdu area. It may be associated with serum HDL-C, apo A I and apo B100 levels in non-obese and/or obese subjects of certain genders.

Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; genetics ; Case-Control Studies ; Female ; Humans ; Ion Channels ; genetics ; Lipids ; blood ; Male ; Middle Aged ; Mitochondrial Proteins ; genetics ; Obesity ; blood ; ethnology ; genetics ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Uncoupling Protein 1

OBJECTIVETo investigate the expression of PTEN (phosphatase and tension homology deletion on chromosome 10, PTEN) and its pseudogene PTENP1 in acute leukemia (AL) and correlation between them, and to explore the role of PTENP1 on the PTEN expression in AL cells.

METHODSPTEN and PTENP1 mRNA expression were evaluated in bone marrow (BM) samples from 138 newly diagnosed AL patients and 15 healthy controls by quantitative real-time RT-PCR (qRT-PCR). pCDH1-PTENP1 3'UTR-GFP lentivirus vectors were constructed. 293T cells were transfected by calcium phosphate precipitation to produce retrovirus. HL-60 cell line was infected with the retroviral vectors expressing pCDH1-GFP and pCDH1-PTENP1 3'UTR-GFP respectively. The flow cell sorter was used to sort the HL-60 with GFP positively expressed. The mRNA expression of PTEN and PTENP1 was detected by qRT-PCR, the expression of PTEN protein by western blot, and the impact of PTENP13'UTR on the proliferation of HL-60 cells by MTT assay.

RESULTSAML patients showed significantly lower PTEN and PTENP1 mRNA expression in BM compared to healthy controls. Correlation analysis showed that the expression of PTEN and PTENP1 mRNA were positively correlated (P < 0.05). The 108 cases of PTENP1(+) AML were classified according to the prognostic classification of 2011 NCCN Clinical Practice Guidelines in AML, there was no difference among different subgroups. HL-60 cell line was infected with the retroviral vectors expressing pCDH1-GFP (control group) and pCDH1-PTENP1 3'UTR-GFP respectively. Compared with the control group, PTENP1 mRNA level of HL-60 infected with the retroviral vectors expressing pCDH1-PTENP1 3'UTR-GFP increased significantly, and PTEN mRNA level also increased. While the PTEN protein level and the cell growth rate of the PTENP1 3'UTR group didn't change significantly.

CONCLUSIONPTEN and PTENP1 mRNA expression level of BM cells from AL patients is significantly lower. There is a positive correlation between expression of PTEN and PTENP1 mRNA. PTENP1 may regulate the expression of PTEN in mRNA level.

Adolescent ; Adult ; Aged ; Case-Control Studies ; Child ; Female ; Gene Expression ; HL-60 Cells ; Humans ; Leukemia ; genetics ; Male ; Middle Aged ; PTEN Phosphohydrolase ; genetics ; Pseudogenes ; genetics ; RNA, Messenger ; genetics ; Transfection ; Young Adult