Background. Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.

Objective. To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.

Methods. An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.

Results. Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.

Conclusion. The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.

Cardiovascular Diseases ; Dyslipidemias ; Genetics ; Polymorphism, Single Nucleotide

OBJECTIVE: To evaluate the effects of 12 weeks high intensity interval training(HIIT) on serum lipids profile in patients with dyslipidemia of different apolipoprotein E(ApoE) genotypes. METHODS: Eighty-eight patients with dyslipidemia were screened by fasting blood lipid as subjects. Apolipoprotein E genotypes were detected in oral mucosa of subjects. Serum lipids before and after 12 weeks high intensity interval training were measured to analysis the effect of high intensity interval training on serum lipids. RESULTS: Five genotypes were detected in 88 cases of dyslipidemia. The distributions were ApoE3/3＞ApoE3/4＞ApoE2/3＞ApoE2/2＞ApoE2/4,and allele ε3＞ε2=ε4. Before exercise intervention, the level of total cholesterol in patients with ε4 allele was significant higher than those in patients with ε2 and ε3 (P＜0.01), low density lipoprotein cholesterol in patients with ε4 was significant higher than that of patients with ε2 (P＜0.05), and the other indexes had no significant difference among the groups (P＞ 0.05). After 12 weeks high intensity interval training, the levels of total cholesterol, triglyceride and low density lipoprotein cholesterol were decreased significantly ,while the level of high density lipoprotein cholesterol was increased in those patients with ε3 genotype. For those individuals with ε4 genotype , their serum levels of total cholesterol and low density lipoprotein cholesterol were reduced after 12 weeks high intensity interval training , but there was no changes in serum levels of triglyceride and high density lipoprotein cholesterol. For those individuals with ε2 genotype, there was no significant improvement in serum lipids after 12 weeks high intensity interval training interventions. CONCLUSION The polymorphisms of apolipoprotein E gene resulted in different effects of exercise interventions on serum lipids of dyslipidemia. Twelve weeks high intensity interval training can be used as an intervention method to regulate serum lipids of dyslipidemia with ε3 and ε4 alleles.
Apolipoproteins E ; genetics ; Dyslipidemias ; genetics ; therapy ; Genotype ; High-Intensity Interval Training ; Humans ; Lipids ; blood

OBJECTIVETo investigate the relationship between SNPs reported in previous studies and the blood lipid level in the Tibetan population.

METHODSRandom cluster sampling was employed in 5 areas (Lhasa, Shigatse, Shannan, Nagqu, and Nyingchi). The levels of cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) from blood samples were determined and DNA was extracted for genotyping and statistical analyses.

RESULTSAmong 1 318 subjects aged >18 years enrolled in this study, 367 had dyslipidemia with a prevalence of 27.8%, of whom dyslipidemia males accounted for 33.1% and dyslipidemia females -24.5%. Results of the correlation analysis between all SNPs and TG showed that the SNPs of rs714052 and rs964184 were related to the serum TG level. Subjects with rs714052 CC genotype had the lowest TG level, and the highest TG level was found in those with rs714052 TT genotype. The serum TG level in individuals with TC genotype lied in between the above two population groups. Subjects with rs964184 CC genotype had the lowest TG level, and the highest serum TG level was noted in those with rs964184 GG genotype.

CONCLUSIONSeveral SNPs were found to be related to the serum TG level in the Tibetan population. The APOA5 gene and MLXIPL gene may be closely associated with the serum TG level in this ethnic population group.

Dyslipidemias ; epidemiology ; genetics ; Female ; Genotype ; Humans ; Lipids ; blood ; Male ; Polymorphism, Single Nucleotide ; Tibet ; epidemiology

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics.
Blood Proteins ; Ceruloplasmin ; Copper ; Diagnosis ; Dyslipidemias ; Genetics ; Hepatolenticular Degeneration* ; Humans ; Liver ; Metals, Heavy ; Nephritis, Hereditary ; Prognosis ; Proteinuria* ; Transaminases ; Zinc

OBJECTIVETo investigate the relationship between the G protein-gated inward rectifier K+ channel subunit 4 (GIRK4) gene polymorphism and the dyslipidemia among Uyghur residents in Xinjiang.

METHODSThe polymorphisms of rs2604204, rs4937391, rs6590357, and rs11221497 among the Uyghur residents were genotyped using Taqman polymerase chain reaction (PCR). Lipid levels were measured by conventional methods and were analyzed.

RESULTSIn the less-than-50-years population, the genotype distributions of the rs6590357 was statistically significant different in subjects with or without abnormal triglycerides (P=0.005). Aslo, the the genotype distributions of the rs11221497 also significantly differed in subjects with normal compared or abnormal TG (P=0.011). Logistic regression analysis suggested that rs6590357 still had positive association with TG abnormalities in subjects under 50 years (P=0.014). rs11221497 also had positive association with TC abnormalities. The TG levels of CT+TT genotypes were significantly higher than the CC group (P=0.006). Haplotype analysis found that the differences of H3 haplotype frequencies between the TG abnormal and normal groups were statistically significant (P=0.007).

CONCLUSIONThe polymorphisms of rs11221497 and rs6590357 of GIRK4 gene may play a role in the development of dyslipidemia in Uygur population.

China ; epidemiology ; Dyslipidemias ; epidemiology ; metabolism ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Potassium Channels, Inwardly Rectifying ; genetics ; Triglycerides

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

OBJECTIVE: To explore the association of single nucleotide polymorphisms (SNPs) of the vitamin D receptor gene ( VDR) with circulating lipids considering gender differences. METHODS: Of the Han Chinese adults recruited from a health examination center for inclusion in the study, the circulating lipids, 25-hydroxyvitamin D (25OHD), and other parameters were measured. The VDR SNPs of Cdx2 (rs11568820), Fok1 (rs2228570), Apa1 (rs7975232), and Taq1 (rs731236) were genotyped with a qPCR test using blood DNA samples, and their associations with lipids were analyzed using logistic regression. RESULTS: In the female participants ( n = 236 with dyslipidemia and 888 without dyslipidemia), multiple genotype models of Fok1 indicated a positive correlation of B (not A) alleles with LDLC level ( P < 0.05). In the male participants ( n = 299 with dyslipidemia and 564 without dyslipidemia), the recessive model of Cdx2 and the additive and recessive models of Fok1 differed ( P < 0.05) between the HDLC-classified subgroups, respectively, and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC ( P < 0.05). CONCLUSION In the Chinese Han adults included in the study, the Fok1 B-allele of VDR was associated with higher LDLC in females, and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males. The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.
Adult ; Alleles ; Asians/genetics* ; China/ethnology* ; Dyslipidemias/genetics* ; Female ; Genetic Predisposition to Disease/genetics* ; Genotype ; Humans ; Lipids/blood* ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptors, Calcitriol/genetics* ; Sex Factors ; Vitamin D/blood*

Objective To investigate the association between total homocysteine (tHcy) level in plasma and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genetic polymorphisms in a Chinese Han nationality population with type 2 diabetes mellitus (T2DM) accompanied by dyslipidemia. Methods This case-control study enrolled T2DM patients with dyslipidemia and without dyslipidemia respectively. Sanger dideoxy-mediated chain-termination method was used to detect the gene polymorphisms of MTHFR C677T and A1298C. Plasma tHcy and lipid levels were measured as well. The genotype frequency and allele frequency between the dyslipidemia and non-dyslipidemia groups were compared by using Chi-square test. Plasma tHcy level of T2DM patients who carried the different genotypes was compared by Student's t test. Results Finally, 82 T2DM patients with dyslipidemia and 94 ones without dyslipidemia were included in this study. There was a significant correlation between tHcy level and MTHFR C677T gene polymorphism in T2DM patients (t=2.27, P=0.02). Moreover, the plasma tHcy level in the dyslipidemia patients who carried MTHFR 677 TT genotype was significantly higher than that in those with CT+CC genotype (13.62±6.97 vs. 10.95±3.62 μmol/L, t=2.20, P=0.03); while for patients without dyslipidemia, comparison of the tHcy level between those who carried the above two alleles showed no significantly difference (13.34±6.03 vs. 12.04±5.09 μmol/L, t=1.08, P=0.29). Conclusion MTHFR 677TT genotype might associate with higher tHcy level in T2DM patients with dyslipidemia.
Adult ; Aged ; Alleles ; Asian People/genetics* ; Base Sequence ; Case-Control Studies ; China ; Diabetes Mellitus, Type 2/genetics* ; Dyslipidemias/genetics* ; Gene Frequency ; Genotype ; Homocysteine/blood* ; Humans ; Linkage Disequilibrium ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics* ; Middle Aged ; Polymorphism, Single Nucleotide

OBJECTIVETo find out the effects of peroxisome proliferator-activated receptor gamma 2 (PPARgamma2) genetic polymorphism and nutrition intervention to blood lipid abnormal population.

METHODS412 hyperlipemia residents of Han group were screened from 3 main districts in Nanjing by multistage stratified cluster random sampling, and separated into nutritional intervention and control group by simple random method. The intervention group (221 individuals) were provided with coarse good grain and health education while only health education was provided for the control group (191 individuals). Medical examinations (including body mass index (BMI), waist-to-hip ratio (WHR); total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C) and fasting blood glucose (FBG)) were taken every 6 months between March 2007 and March 2008, and PPARgamma2 genetic polymorphism was also detected later.

RESULTSAfter intervention, TC levels of intervention group and control group were (4.90 +/- 0.86) and (5.16 +/- 0.94) mmol/L respectively; TG levels were (1.68 +/- 0.97) and (2.29 +/- 1.10) mmol/L respectively; HDL-C levels were (1.35 +/- 0.36) and (1.16 +/- 0.33) mmol/L respectively, all of the differences were significant in statistics (t values were -2.95, -6.01, 5.55 respectively, P < 0.01). The levels of BMI ((24.81 +/- 3.21) kg/m(2)), WHR (0.88 +/- 0.07), FBG ((5.40 +/- 1.17) mmol/L), TC ((4.92 +/- 0.87) mmol/L) and TG ((1.68 +/- 1.01) mmol/L) decreased significantly (t values were 19.06, 16.43, 1.98, 8.86, -14.32 respectively, P < 0.01) compared to the levels before intervention (BMI (25.39 +/- 3.30) kg/m(2), WHR (0.92 +/- 0.07), FBG (6.07 +/- 2.17) mmol/L, TC (5.28 +/- 0.94) mmol/L and TG (2.70 +/- 1.86) mmol/L), while HDL-C (1.37 +/- 0.36) mmol/L increased significantly compared to the level before intervention (1.13 +/- 0.42) mmol/L (t = -7.68, P < 0.01) in the individuals with Pro/Pro of intervention group. WHR (0.90 +/- 0.06) and TG ((1.71 +/- 0.59) mmol/L) decreased significantly compared to the levels before intervention (WHR (0.95 +/- 0.06) and TG (2.58 +/- 1.12) mmol/L) (t values were -3.53 and -8.05 respectively, P < 0.01) in the ones with Pro/Ala. Moreover, susceptibility of change for BMI in Pro/Pro genotype carriers ((-1.21 +/- 1.02) kg/m(2)) was significantly greater than that in Pro/Ala genotype carriers ((-0.58 +/- 1.85) kg/m(2), t = -6.29, P < 0.01).

CONCLUSIONSeveral indices of individuals with Pro/Pro improved obviously after nutrition intervention, which showed that effects of intervention to these people were better than those with Pro/Ala and Ala/Ala.

Case-Control Studies ; China ; Dyslipidemias ; diet therapy ; prevention & control ; Female ; Humans ; Lipids ; blood ; Male ; Middle Aged ; PPAR gamma ; genetics ; Polymorphism, Genetic

OBJECTIVETo assess the association of vitamin D receptor (VDR) gene Fok I and Bsm I polymorphisms with dyslipidemia in elderly male patients with type 2 diabetes of Han nationality.

METHODSA total of 328 elderly male residents of Han nationality in Beijing, including 237 type 2 diabetic patients and 91 healthy control subjects, were enrolled in this study. The diabetic patients were divided into non-dyslipidemia group (DO group, n=134) and dyslipidemia group (DH group, n=103). All the participants were genotyped for Fok I and Bsm I polymorphisms in VDR gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing technology, and the results were compared with their clinical characteristics.

RESULTSFor Fok I, the frequency of F allele was significantly higher in the diabetic patients than in the control group (Χ(2)=3.873, P=0.049, OR=1.439, 95% CI: 1.001-2.071). In the dominant model, the frequency of FF genotype was significantly higher in the diabetic group (Χ(2)=5.057, P=0.025, OR=1.756, 95% CI: 1.072-2.875) as well as in DH group (Χ(2)=6.168, P=0.013, OR=2.06, 95% CI: 1.161-3.663) than in the control group. There was no significant differences in the genotype frequency or allele distribution in other paired groups (P>0.05). Compared with Ff + ff genotype, FF genotype was associated with a significantly decreased average diastolic blood pressure (P=0.039) but significantly increased postprandial blood glucose (P=0.035), triglycerides (P=0.049) and uric acid (P=0.031). No significant difference was detected in genotype frequency or allele distribution of Bsm I polymorphisms between the groups (P>0.05); serum creatinine levels were significantly higher in bb genotype than in BB + Bb genotype group (P=0.011).

CONCLUSIONVDR gene Fok I polymorphisms may be a risk factor for dyslipidemia in elderly male patients with type 2 diabetes among Chinese Han population, where Bsm I polymorphisms are not associated with diabetic dyslipdiemia.

Aged ; Alleles ; Blood Glucose ; Blood Pressure ; Case-Control Studies ; Diabetes Mellitus, Type 2 ; genetics ; Dyslipidemias ; genetics ; Ethnic Groups ; Genotype ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Receptors, Calcitriol ; genetics ; Risk Factors ; Triglycerides ; blood