Analysis of rs4420638A/G and -317H1/H2 polymorphisms of APOC1 gene among Chinese patients with pre-eclampsia / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of apolipoprotein (apo) C1 (APOC1) gene rs4420638A/G and -317H1/H2 polymorphisms with the risk of pre-eclampsia (PE) and the influence of their genotypes on the clinical and metabolic indexes among Chinese women.@*METHODS@#In total 289 PE patients and 824 women with uncomplicated pregnancies were included. The rs4420638A/G genotype was determined by a Taqman real-time PCR allelic discrimination assay. The -317H1/H2 genotype was measured through PCR and restriction fragment length polymorphism analysis. Serum lipid and apo levels were measured by an enzymatic kit and a PEG-enhanced immunoturbidimetric assay.@*RESULTS@#Allelic and genotypic frequencies of the APOC1 gene rs4420638A/G and -317H1/H2 were not significantly different between the two groups (all P> 0.05). However, patients carrying the G allele of the rs4420638A/G locus had higher serum levels of triglyceride, non-HDL-C and apoB, and a higher apoB/apoA1 ratio compared with those with an AA genotype (all P< 0.05). Patients carrying the H2 allele of the -317H1/H2 polymorphism had smaller delivery gestational weeks compared with those with the H1H1 genotype (P< 0.05).@*CONCLUSION@#Polymorphisms of the APOC1 gene rs4420638 and -317H1/H2 sites may be associated with abnormal lipoprotein metabolism among Chinese patients with PE, though no association was found between variants of the APOC1 gene and the risk of PE among them.

Relationship between GSTM1 and GSTT1 gene polymorphisms and plasma lipid and apolipoprotein levels in Chinese normalipidemic and endogenous hypertriglyceridemic subjects / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate effects of GSTM1 and GSTT1 gene polymorphisms on serum lipid and apopoprotein levels in healthy normolipidemic and endogenous hypertriglyceridemic subjects.</p><p><b>METHODS</b>Two 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>

Association study between 834+7G/A and +1332C/T polymorphisms in the growth arrest specific 6 gene and risk of severe preeclampsia in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between polymorphisms of the growth arrest specific 6 (GAS6) gene and severe preeclampsia in a South West Han Chinese population.</p><p><b>METHODS</b>Blood 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.</p><p><b>RESULTS</b>C 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.</p><p><b>CONCLUSION</b>The 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.</p>

Effect of small direct-current electrical stimulation on migration and invasion related MMPs/TIMPs expression of trophoblast cells / 重庆医学

Objective To investigate the effect of small direct‐current electrical stimulation on migration and invasion related MMPs/TIMPs expression of trophoblast cells .Methods The trophoblast cells were exposed to the direct current electrical field at 150 mV/mm for 5 and 10 hours .Cell images were recorded with continuous photographing and analyzed by image analyzer .The ex‐pression levels of MMP2 ,MMP9 ,TIMP1 and TIMP2 were measured using quantitative RT‐PCR and Western blot .Results In non‐electrical field culture trophoblast cells migrated slowly with random directions .Trophoblast cells cultured in media containing 10% calf serum with the application of 150 mV/mm direct current electrical stimulation ,showed marked cathodal migration (P<0 .01) ,the cell body stretched ,perpendicular to the direction of the electric field .Compared with the non‐electrical field stimulation controls ,trophoblasts under the electrical field stimulation had the increased MMP2 mRNA and protein expression (P< 0 .05) , while MMP9 ,TIMP1 and TIMP2 had no obvious changes of mRNA or protein expressions .Conclusion Physiological direct‐cur‐rent electrical fields might induce directed migration and perpendicular orientation of trophoblast cells .The enhanced MMP2 expres‐sion may play an important role in the migration and invasive activity of trophoblast cells in small electrical field .

Association study between -765G > C and -1195G > A functional polymorphisms in the cyclooxygenase 2 gene and risk of preeclampsia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between two polymorphisms immediately upstream of the cyclooxygenase 2 (COX2) gene and preeclampsia in a South West Han Chinese population.</p><p><b>METHODS</b>Blood 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.</p><p><b>RESULTS</b>G 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.</p><p><b>CONCLUSION</b>COX2 -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.</p>

Activity and distribution of plasma platelet-activating factor acetylhydrolase in polycystic ovary syndrome patients with insulin resistance / 中华妇产科杂志

Objective To investigate the relationship between activity of plasma platelet-activating factor acetylhydrolase (PAF-AH)and insulin resistance (IR) in patients with polycystic ovary syndrome (PCOS). Methods From Oct. 2006 to Jan. 2008, 105 PCOS patients undergoing treatment in Department of Obstetrics and Gynecology of Second Hospital affiliated to West China University were enrolled in the study, among 53 cases with homeostatic model assessment IR (HOMA-IR) exceed or equal 2.77 as IR-PCOS group and 52 cases with HOMA-IR less than 2.77 as non IR-PCOS group. In the mean time, 53 infertile women due to fallopian tube or husband factors were chosen as control group. Plasma PAF-AH activity, high-density lipoprotein-associated PAF-AH (H-PAF-AH) activity, low-density lipoprotein-associated PAF-AH (L-PAF-AH) activity, the ratio of L-PAF-AH to H-PAF-AH activity were measured and compared among three groups. The method of Pearson correlation analysis and stepwise multiple regression analysis were used to study the relationship between the ratio of L-PAF-AH to H-PAF-AH activities and hormonal and metabolic parameters. Results (1) Plasma PAF-AH activity [ (0.055±0.012) mmol· L~(-1)·min~(-1)], L-PAF-AH activity [(0.052±0.012) mmol·L~(-1)·min~(-1)], and the ratio of L-PAF-AH to H-PAF-AH activity (23±6) in the IR-PCOS group were significantly higher than those at control group [(0.050±0.009) mmol·L~(-1) ·min~(-1), (0.047±0.009) mmol·L~(-1)·min~(-1) and (18±4)] and non-IR-PCOS group [(0.050±0.0012) mmol·L~(-1) ·min~(-1), (0.048±0.012) mmol·L~(-1)·min~(-1) and (18± 5 ), P <0.05 ]. The ratio of L-PAF-AH to H-PAF-AH activities at IR-PCOS group was also significantly higher than those at Non IR-PCOS and control group after correction for body mass index (P<0.01). (2) Pearson correlation analysis showed that the ratio of L-PAF-AH to H-PAF-AH in PCOS patients was positively correlated with atherogenic index, age, body mass index, waist-to-hip ratio, HOMA-IR, triglyceride levels, fasting insulin levels, fasting glucose levels, low density lipoprotein cholesterol and total cholesterol (r=0.644, 0.247, 0.296, 0.212, 0.356, 0.587, 0.377, 0.375, 0.292 and 0.199, respectively, P<0.05), and negatively correlated with high density lipoprotein cholesterol (r=-0.510, P<0.05). The multiple stepwise regression analysis showed that atherogenic index and triglyceride were significant variables for the ratio of L-PAF-AH to H-PAF-AH activity (standardized coefficient, β=0.515 and 0.201, respectively, P<0.05). Conclusion The elvated L-PAF-AH activity may be associated with IR in PCOS patients, and the increased ratio of L-PAF-AH to H-PAF-AH activities may be a potential marker of inflammation in the patients.

The Pvu II and Xba I polymorphisms in the estrogen receptor alpha gene in Chinese patients with severe preeclampsia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Blood 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>Our 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.</p>

Analysis of -3826A/G polymorphism in the promoter of the uncoupling protein-1 gene in Chinese non-obese and obese populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the -3826A/G polymorphism in the promoter of the uncoupling protein-1 (UCP1) gene and its relations to obesity in Chinese population.</p><p><b>METHODS</b>Three 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.</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSION</b>-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.</p>

Analysis of beta2-adrenergic receptor gene (beta2AR) Arg16Gly polymorphism in patients with endogenous hypertriglyceridemia in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the Arg16Gly polymorphism of beta2-adrenergic receptor (beta2AR) gene and its association with endogenous hypertriglyceridemia (HTG) in Chinese population.</p><p><b>METHODS</b>Three 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).</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSION</b>These 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.</p>

Analysis of acyl-coenzyme A: cholesterol acyltransferase 1 polymorphism in patients with endogenous hypertriglyceridemia in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphism of acyl-coenzyme A: cholesterol acyltransferase 1(ACAT1) gene and its relationship with endogenous hypertriglyceridemia (HTG) in Chinese population.</p><p><b>METHODS</b>A total of three hundred and seventy-two subjects (105 endogenous hypertriglyceridemics and 267 healthy controls) from a population of Chinese Han nationality in Chengdu area were studied using PCR-restriction fragment length polymorphism (RFLP).</p><p><b>RESULTS</b>The frequency of C allele in normal Chinese at rs1044925 locus was 0.137, which was lower than that reported in the population of central and Southern Europe (0.354) (P< 0.05). The frequency C allele was 0.153 in HTG group. No significant difference between normal control and HTG group. In control group, subjects with genotype AA had a higher serum mean concentrations of low density lipoprotein-cholesterol (LDL-C) and non-high density lipoprotein-cholesterol(nHDL-C) when compared with those of C allele carriers (AC and CC genotype carriers), respectively [(3.25+/- 0.68) mmol/L vs (3.03+/- 0.87) mmol/L, P< 0.05; (3.80+/- 0.71) mmol/L vs (3.23+/- 0.82) mmol/L, P< 0.05]. In HTG group, subjects with genotype AA had a higher high density lipoprotein-cholesterol (HDL-C) level compared with those of C allele carriers [(1.00+/- 0.28) mmol/L vs (0.87+/- 0.17) mmol/L, P< 0.05].</p><p><b>CONCLUSION</b>These results suggest that rs1044925 polymorphism in ACAT1 gene is not only associated with serum LDL-C and nHDLC levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level in subjects with endogenous hypertriglyceridemia in this population.</p>

The -384A >C polymorphism of endothelial lipase gene promoter region in Chinese healthy normolipidemic and endogenous hypertriglyceridemic subjects / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Two 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>These 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.</p>

Analysis of the GNB3 gene 825C/T polymorphism in non-obese and obese Chinese / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the G-protein beta 3 subunit (GNB3) gene 825C/T polymorphism and its relationship to obesity in Chinese population.</p><p><b>METHODS</b>Three 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>

Analysis of ATP binding cassette A1 gene R219K polymorphism in patients with endogenous hypertriglyceridemia in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the variations of ATP binding cassette A1 (ABCA1) gene and its relation to endogenous hypertriglyceridemia (HTG) in Chinese population.</p><p><b>METHODS</b>A total of three hundred and nine subjects (one hundred and nine endogenous hypertriglyceridemics and 200 healthy controls) from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLP) amplified by polymerase chain reaction (PCR).</p><p><b>RESULTS</b>The frequency of K allele at R219K site 0.472 and 0.436 in normal and HTG group, respectively. No significant difference between normal control and HTG group was found in both allele and genotype frequencies. In both normal and HTG groups, subjects with genotype KK had a higher serum mean concentration of high density lipoprotein-cholesterol (HDL-C) when compared with those with genotype RR, respectively (1.48+/-0.45 mmol/L vs 1.27+/-0.29 mmol/L, P<0.05; 1.07+/-0.30 mmol/L vs 0.87+/-0.19 mmol/L, P<0.05). In normal group, subjects with genotype RK had a lower triglyceride (TG) level compared with those with genotype RR (1.22+/-0.37 mmol/L vs 1.41+/-0.84 mmol/L, P<0.05). In addition, the subjects carrying K allele in HTG group had a decreased total cholesterol (TC)/HDL-C ratio compared with those with genotype RR (KK vs RK vs RR: 4.82+/-1.28 vs 5.42+/-1.62 vs 6.33+/-1.70, P<0.05).</p><p><b>CONCLUSION</b>These results suggest that R219K polymorphism in ABCA1 gene is not only associated with serum HDL-C and TG levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level and TC/HDL-C ratio in subjects with endogenous HTG.</p>

Association between cholesterol 7alpha-hydroxylase -204A/C gene polymorphism and endogenous hypertriglyceridemia in Chinese / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the cholesterol 7alpha-hydroxylase gene -204A/C polymorphism and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia (HTG) in Chinese population in Chengdu area.</p><p><b>METHODS</b>The genotype and allele frequencies of cholesterol 7alpha-hydroxylase gene -204A/C polymorphism were analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Serum lipids were measured by enzymatic kits and apolipoproteins AI, AII, B100, CII, CIII and E were measured by the RID kits in 132 HTG patients and 212 control subjects.</p><p><b>RESULTS</b>Allele frequencies of A and C were 0.602 and 0.398 in HTG group and 0.601 and 0.399 in control group, respectively. There was no significant difference of allele and genotypes frequencies between HTG and control groups (P> 0.05). In HTG group, carriers with the genotypes CC and AC were associated with significantly higher concentrations of triglycerides and apoCIII compared with those with genotype AA (P< 0.05). In the control group, carriers with the genotypes CC and AC were associated with significantly lower serum high density lipoprotein cholesterol (HDL-C) level compared with those with genotype AA (P< 0.05). In the male control group, carriers with the genotypes CC and AC had elevated levels of serum triglycerides than those with genotype AA (P< 0.05).</p><p><b>CONCLUSION</b>These results suggest that -204A/C polymorphism in the CYP7A1 gene does not relate with HTG but may has an effect on serum triglyceride and apoCIII levels in patients with endogenous HTG, the serum HDL-C level in control subjects and the serum TG level in male control subjects.</p>

Inhibitory effect of quercetin, rutin and puerarin on LDL oxidation induced by Cu2+ / 中国中药杂志

<p><b>OBJECTIVE</b>To evaluate the inhibitory effect of quercetin, rutin and puerarin on the LDL oxidation induced by Cu2+ and to investigate their action on the prevention and treatment of atherosclerosis.</p><p><b>METHOD</b>The serum LDL was isolated by the one step density gradient ultracentrifugation. The LDL oxidation was induced by Cu2+ in vitro for different time periods. Quercetin, rutin and puerarin at 5 micromol x L(-1) were added respectively, as the experimental groups, 3 hours before oxidation. The oxidation of LDL in experimental and control groups was identified by measuring A234, REM, TBARS and protein carbonyls content, and the values were compared between the two groups.</p><p><b>RESULT</b>(1) The values of A234, REM, TBARS and protein carbonyls formation increased gradually during LDL oxidation induced by Cu2+ in vitro. (2) During LDL oxidation induced by Cu2+ in vitro and incubation with each of quercetin, rutin and puerarin, the kinetic changes of A234, REM, TBARS and protein carbonyls formation showed lag phases of 2-6 h, 2 h and 2 h respectively, and the corresponding values for each of the agents treated group were reduced by 27.7%-49.6%, 24.1%-38.6%, 19.8%-34.3% and 36.4%-56.8%; 12.8%-39.3%, 15.7%-32.0%, 19.0%-28.1% and 12.8%-50.3%; and 3.3%-19.2%, 7.0%-22.5%, 19.5%-22.8% and 8.6%-47.0%, respectively.</p><p><b>CONCLUSION</b>These results suggest that quercetin, rutin and puerarin can substantially inhibit LDL oxidation, and quercetin has antioxidation ability stronger than rutin and puerarin.</p>

Analysis of cholesterol ester transfer protein gene Taq IB and -629 C/A polymorphisms in patients with endogenous hypertriglyceridemia in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the variations of cholesterol ester transfer protein (CETP) gene and its relation to endogenous hypertriglyceridemia (HTG) in Chinese population.</p><p><b>METHODS</b>One hundred and thirty-five endogenous hypertriglyceridemics and 214 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLPs) amplified by polymerase chain reaction (PCR). The polymorphic sites studied included Taq IB and -629 C/A polymorphism in CETP gene.</p><p><b>RESULTS</b>The frequencies of B(2) allele at Taq IB site in normal group and HTG group were 0.418 and 0.382, respectively. The frequencies of A allele at -629 C/A site in the two groups were 0.479 and 0.489, respectively. No significant difference between normal control and HTG groups were found in both allele frequency of the two polymorphism. Linkage disequilibrium was observed between Taq IB and -629 C/A polymorphic sites (D'=0.881). In the normal control group, subjects with genotype B(2)B(2) of Taq IB site had a higher serum mean concentration of HDL-C and lower LDL-C when compared with that of genotype B(1)B(1) and B(1)B(2), respectively (both P< 0.05), while those with genotype CC of -629 C/A site had a lower LDL-C level and higher Apo A II level when compared with that of genotype AC (P< 0.01 and P< 0.05, respectively). The changes of the lipid and lipoprotein levels were only observed in normal male subjects when male and female groups were further separated. No significant changes of lipid and lipoprotein levels were observed in both polymorphism in HTG group. Combined genotype analysis of the two sites, subjects with genotype B(2)B(2)CC in normal controls had higher HDL-C levels but lower serum triglyceride (TG) when compared with B(1)B(1)CC.</p><p><b>CONCLUSION</b>These results suggest that Taq IB and -629 C/A polymorphisms in CETP gene are associated with healthy control subjects to some extent in Chinese population, but not with endogenous hypertriglyleridemia in the population group.</p>

Study on lipoprotein lipase gene Hind III polymorphism in Chinese type IIb hyperlipoproteinemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate whether lipoprotein lipase (LPL) gene Hind III polymorphism is associated with Chinese type IIb hyperlipoproteinemia.</p><p><b>METHODS</b>Lipoprotein 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.</p><p><b>RESULTS</b>Both 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).</p><p><b>CONCLUSION</b>The Hind III RFLP at intron 8 of LPL gene is associated with type II b hyperlipoproteinemia to some extent in Chinese population.</p>

Variations of apolipoprotein A IV gene in Chinese endogenous hypertriglyceridemics / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>The aim of this study was to investigate variations of apolipoprotein A IV (apo A IV) gene and its relation to endogenous hypertriglyceridemia(HTG) in Chinese population.</p><p><b>METHODS</b>One hundred and six endogenous hypertriglyceridemics and 171 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphisms (RFLPs) and sequencing of apoA IV gene amplified by polymerase chain reaction (PCR). The polymorphic sites of apo A IV gene studied included codon 9 (A to G, synonymous mutation), codon 347 (A to T, non-synonymous mutation), codon 360 (G to T, non-synonymous mutation), and Msp I polymorphism (CC/TGG) within intron 2.</p><p><b>RESULTS</b>The frequency of G allele at codon 9 in HTG group was higher than that in healthy controls(0.453 vs 0.366, P<0.05). The other polymorphic sites showed no significant differences of the allele frequencies between the two groups. The frequencies of rare alleles, such as G allele at codon 9, T allele at codon 347 and T allele at codon 360 polymorphic site were significantly different from those reported in European Caucasians (0.366 vs 0.032, P<0.001, 0.000 vs 0.160, P<0.001; 0.000 vs 0.070, P<0.001), but no differences were found when compared with those in Japanese, including Msp I site (P>0.05). In the healthy male control group, subjects with genotype G/G of codon 9 had a higher serum mean concentration of apoA I when compared with that of genotype A/A(P<0.01). In the HTG group, subjects with genotype C/T of Msp I site had a higher serum mean concentration of TG with compared with those with genotype C/C and T/T (P<0.05). This difference was only observed in male HTG group when male and female subgroups were further separated.</p><p><b>CONCLUSION</b>These results suggest that Msp I and codon 9 polymorphism in apoA IV gene are associated with endogenous hypertriglyceridemia to some extent in Chinese population.</p>

Effects of oxidative modification of lipoproteins on blood coagulation and fibrinolysis / 中国病理生理杂志

AIM: To study the effects of oxidative modification lipoproteins on blood coagulation and fibrino (lysis) in vitro. METHODS: Normal human plasma VLDL, LDL and HDL, which were isolated by density gradient ultracentrifugation method, were oxidatively modified by Cu~(2+) and HOCl method. N-VLDL, Ox-VLDL, N-LDL, Ox-LDL, N-HDL, Ox-HDL were added to the reaction system which consisted of mixed fresh normal plasma respectively, prothrombin time (PT), activated partial thrombplastin time (APTT), plasminogen activator inhibitor 1 (PAI-1), tissue plasminogen activator (t-PA) and platelet aggregation were measured according to the direction of the kits. RESULTS: The relative electrophoretic mobility (REM), absorbance at 234nm and TBARS of oxidized VLDL, LDL and HDL mediated by HOCl or Cu~(2+) were significantly higher than that of the control group (P

Relationship of subclasses of serum HDL and Apo A-Ⅰ gene polymorphism in hyperlipidemia / 中国病理生理杂志

AIM: To investigate apolipoprotein A-Ⅰ gene (Apo A-Ⅰ) polymorphism and its relationship with serum HDL subclasses in patients with hyperlipidemia (HL). METHODS: Apo A-Ⅰ genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The subclasses of serum HDL in 118 patients with hyperlipidemia and 109 healthy subjects were determined by two-dimensional gel electrophoresis conjunction with immunodetection method. RESULTS: Both in HL group and the control group, G/G and C/C genotypes were the most frequent at -78 bp and +83 bp of Apo A-Ⅰ gene, respectively. The frequency of rare A allele at -78 bp in HL group was significantly higher than that in control group. In HL group, subjects with G/A mutation had higher serum levels of TG, Apo C-Ⅲ, pre ?_1-HDL and HDL_ 3a , and lower levels of HDL_ 2a and HDL_ 2b compared to the subjects with G/G genotype. CONCLUSION: The G/A transition in the -78 bp position of the Apo A-Ⅰ gene promoter in patients with hyperlipidemia is associated with HDL subclasses. There is a general shift toward smaller sized HDL, which, in turn, indicates that HDL maturation might be abnormal.