Objective: To explore the expression level of FGF5 in the peripheral blood of primary hypertension patients and its clinical significance. Methods: The 34 patients with primary hypertension treated in this hospital from June 2012 to June 2014 were selected as the observation group, while the 25 patients at this hospital who had physical exam with heathy results were selected as control group. Venous blood was drawn early in the morning after an overnight fast. FGF5, mRNA and protein level changes in the peripheral blood cells and peripheral blood serum were analyzed by real-time fluorescence based quantitative PCR (RT-PCR) and enzyme-linked immunosorbent assay (ELISA). FGF5 gene SNP (rs16998073) were amplified by PCR and inserted into T vector, and its genetic variation were analyzed by sequencing. The relationship of FGF5 protein levels and genetic variation with diastolic/systolic blood pressure was also analyzed. Results: Comparing with the control group, the observation group's FGF5 mRNA and protein levels significantly increased in the peripheral blood cells and peripheral blood. The difference was statistically significant (P <.05). Correlation analysis showed that FGF5 protein level and systolic/diastolic blood pressure were positively correlated (P <.05). T/A genetic variation of FGF5 gene SNP (rs16998073) and diastolic/systolic blood pressure were positively correlated (P <.05). Conclusion: The FGF5 mRNA and protein expression levels of the patients with primary hypertension were abnormal and had genetic variation, which were associated with blood pressure of the patients with primary hypertension. (C) 2018 Production and hosting by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license.

Maonan ethnic group is an isolated minority residing in the Southwestern of China. The population size is 107,166 in 2010. The epidemic status of hypertension in this ethnic group has not been investigated previously. The aim of this study was to compare the difference in the prevalence, awareness, treatment, control and the risk factors of hypertension between the Maonan and Han ethnic groups. A cross-sectional study of hypertension and its risk factors in 1332 subjects of Maonan ethnic group and 1344 participants of Han nationality aged 18-98 was conducted by a stratified randomized sampling. Information on demographics, diet, lifestyle, and physical activity was collected with standardized questionnaires. Blood pressure, biochemical data, and several anthropometric parameters were obtained from all subjects. The levels of systolic, diastolic and pulse pressures, and the overall prevalence of hypertension (48.57% vs. 30.80%) and isolated systolic hypertension (14.79% vs. 9.90%) were higher in Maonan than in Han (P < 0.001 for all). The rates of awareness, treatment and control in Maonan and Han were 16.69% vs. 23.67% (P < 0.01), 15.30% vs. 20.77% (P < 0.05), and 5.41% vs. 10.63% (P < 0.01); respectively. Multivariate logistic regression analysis showed that the prevalence of hypertension was positively correlated with body mass index, hyperlipidemia, cigarette smoking, total fat and sodium intakes, and negatively associated with total dietary fiber intake in Maonan, whereas it was positively associated with age, body mass index, alcohol consumption, total fat and sodium intakes, and negatively associated with total dietary fiber intake in Han (P < 0.05-0.001). The difference in the prevalence of hypertension and its risk factors between the two ethnic groups might result from different body mass index, hyperlipidemia, diet, lifestyle, and genetic background.

The Mulao ethnic group is an isolated minority in China. Little is known about the prevalence of dyslipidemia and its risk factors in this population. The aim of this study was to detect the difference in serum lipid levels and the risk factors in the Mulao and Han ethnic groups. A cross-sectional study of dyslipidemia was conducted in 1055 unrelated subjects of Mulao and 969 participants of Han ethnic groups. Serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels were higher but the high-density lipoprotein cholesterol (HDL-C) and ApoA1 levels, and the ApoA1/ApoB ratio were lower in Mulao than in Han (P < 0.05-0.001). The prevalence of hypercholesterolemia and hyperlipidemia was also higher in Mulao than in Han (43.98% vs. 36.84% and 52.23% vs. 45.51%, P < 0.01; respectively). The effects of sex, age, body mass index (BMI), hypertension, alcohol consumption, and cigarette smoking on serum lipid levels were different between the Mulao and Han populations. The prevalence of hyperlipidemia was positively correlated with BMI, hypertension and the intakes of total energy and total fat in Han, whereas it was positively associated with age, alcohol consumption, BMI, systolic blood pressure, diastolic blood pressure, and the intakes of total energy and total fat in Mulao (P < 0.05-0.001). The difference in the serum lipid levels and the prevalence of hyperlipidemia between the two ethnic groups might result from the combined effects of different education level, BMI, hypertension, diet, lifestyle, and genetic background.

Gene polymorphisms of the renin–angiotensin system are involved in the pathophysiology of hypertension. We genotyped 4 polymorphisms of angiotensinogen (AGT) gene A-20C (rs5050), A-6G (rs5051), C3889T (rs4762), and C4072T (rs699) by polymerase chain reaction-restriction fragment length polymorphism in 652 patients and 780 controls to examine the association of AGT and hypertension in a Northern Han Chinese population. There were significant differences in the distribution of genotypes and allele frequencies at C4072T between the patients and the controls (both P < .01); patients with CC genotype had a higher risk of hypertension (odds ratio = 1.7, 95% confidence interval 1.4–2.1). The distribution of genotypes at A-6G was significantly different between patients and controls (P < .05). No other significant differences in genotypes or frequencies were observed. No association was observed between the haplotypes of AGT and hypertension. The AGT-6A and 4072C alleles are associated with susceptibility to hypertension in this population.

The interactions between single nucleotide polymorphisms (SNPs) and high body mass index (BMI) on serum lipid profiles are limited. This study was undertaken to detect the interactions of 10 SNPs and high BMI on serum lipid traits in an isolated population. A total of 978 normal BMI (< 24 kg/m2) and 751 high BMI (≥ 24 kg/m2) subjects of Bai Ku Yao were randomly selected from our previous stratified randomized cluster samples. Genotypes of rs2066715, rs1044925, low density lipoprotein receptor (LDL-R) Ava||, rs2070895, rs2000813, rs1801133, rs3757354, rs505151, rs2016520, and rs5888 SNPs were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. The interactions were detected by factorial design covariance analysis. The genotypic and allelic frequencies of rs2070895 and rs505151 were different between normal and high BMI subjects, the genotypic frequency of rs2000813 and allelic frequency of rs3757354 were also different between normal and high BMI subjects (P < 0.01). The levels of total cholesterol (TC), apolipoprotein (Apo) A1 (rs2066715); TC, low-density lipoprotein cholesterol (LDL-C), ApoA1, ApoB, and ApoA1/ApoB (rs2070895); triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and ApoA1 (rs2000813); TC, HDL-C, LDL-C, ApoA1, and ApoB (rs1801133); HDL-C and ApoA1 (rs3757354) in normal BMI subjects were different among the genotypes (P < 0.01). The levels of LDL-C, ApoB, and ApoA1/ApoB (rs2066715); HDL-C, ApoA1, ApoB, and ApoA1/ApoB (rs2070895); TC, HDL-C, ApoA1, and ApoB (rs2000813); TC, TG, HDL-C, LDL-C, ApoA1, and ApoB (rs1801133); TC, TG, and ApoB (rs3757354); TG (rs505151); TG and ApoA1 and ApoB (rs2016520); and TC, HDL-C, LDL-C, ApoA1, and ApoB (rs5888) in high BMI subjects were also different among the genotypes (P < 0.01). The SNPs of rs2066715 (LDL-C and ApoA1/ApoB); rs2070895 (TC, LDL-C, ApoA1, and ApoB); rs2000813 (ApoB); rs1801133 (TC, TG, and LDL-C); rs3757354 (TC and TG); rs505151 (TG, HDL-C, ApoB, and ApoA1/ApoB); rs2016520 (TG and ApoA1/ApoB); and rs5888 (TG, ApoA1, and ApoB) interacted with high BMI to influence serum lipid levels (P < 0.01). The differences in serum lipid levels between normal and high BMI subjects might partly result from different interactions of several SNPs and high BMI.

Little is known about the interactions of single nucleotide polymorphisms (SNPs) and overweight/obesity on blood pressure levels. The present study was undertaken to detect 10 lipid-related gene SNPs and their interactions with overweight/obesity on blood pressure levels. Genotyping of ATP-binding cassette transporter A1 (ABCA-1) V825I, acyl-CoA: cholesterol acyltransferase-1 (ACAT-1) rs1044925, low density lipoprotein receptor (LDL-R) AvaII hepatic lipase gene (LIPC) -250G > A, endothelial lipase gene (LIPG) 584C > T, methylenetetrahydrofolate reductase (MTHFR) 677C > T, the E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP) rs3757354, proprotein convertase subtilisin-like kexin type 9 (PCSK9) E670G, peroxisome proliferator-activated receptor delta (PPARD) +294T > C, and Scavenger receptor class B type 1 (SCARB1) rs5888 was performed in 978 normal weight and 751 overweight/obese subjects. The interactions were detected by factorial regression analysis. The genotypes of ACAT-1 AC, LIPC GA and AA, and SCARB1 TT; LDL-R A-A- and LIPC GA; and SCARB1 TT were interacted with overweight/obesity to increase systolic, diastolic blood pressure (SBP, DBP) and pulse pressure (PP) levels; respectively. The genotypes of ACAT-1 CC; ACAT-1 AA and CC were interacted with overweight/obesity to decrease SBP, PP levels (p < 0.01-0.001); respectively. The differences in blood pressure levels between normal weight and overweight/obese subjects might partly result from different interactions of several SNPs and overweight/obesity.

BACKGROUNDSex differences in hypertension are not well known. The present study was undertaken to detect the association of nine lipid-related gene polymorphisms and blood pressure variation beween men and women in the Bai Ku Yao population.METHODSGenotyping of ATP-binding cassette transporter A1 (ABCA-1) V825I, acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) rs1044925, low-density lipoprotein receptor (LDL-R) Avall, hepatic lipase gene (LIPC) similar to 250G>A, endothelial lipase gene (LIPG) 584C>T, methylenetetrahydrofolate reductase (MTHFR) 677C>T, proprotein convertase subtilisin-like kexin type 9 (PCSK9) E670G, peroxisonne proliferator-activated receptor delta (PPARD) + 294T>C, and Scavenger receptor class B type 1 (SCARB1) rs5888 was performed in 682 normotensives and 670 hypertensives.RESULTSThe genotypic frequencies of LDL-R and SCARB1 in normotensives and ABCA-1, ACAT-1, LDL-R, LIPC, and MTHFR in hypertensives were different between males and females (P < 0.05-0.001).The genotypic frequencies of ABCA-1, ACAT-1, LDL-R, LIPC, MTHFR, PPARD, and SCARB1 in males and ABCA-1, LDL-R, LIPC, LIPG, and MTHFR in females were different between normotensives and hypertensives (P < 0.05-0.001). Systolic blood pressure (SBP) levels in male hypertensives were different among the LIPC, LIPG, PCSK9, and SCARB1 genotypes (P < 0.05-0.01); and diastolic blood pressure (DBP) levels were different among the ABCA-1, LDL-R, LIPC, LIPG, MTHFR, PCSK9, and PPARD genotypes (P < 0.05-0.001). SBP levels in female hypertensives were different among the LIPC, MTHFR, PCSK9, and PPARD genotypes (P < 0.05-0.01); and DBP levels were different among ABCA-1, ACAT-1, MTHFR, PCSK9, PPARD, and SCARB1 genotypes (P < 0.05-0.001). The correlations between these polymorphisms and blood pressure levels were also observed.CONCLUSIONSSex differences in blood pressure levels in this population may partly attribute to the differences in some lipid-related gene polymorphisms.

PURPOSE:Transforming growth factor beta receptor II (TGFBR2) gene mutations are associated with Marfan syndrome; however, the relationship between the mutations and clinical phenotypes are not clear.METHODS:Genomic DNA from peripheral blood leukocytes of a Chinese proband with Marfan syndrome, five of the proband's relatives, and 100 unrelated Chinese control subjects were isolated and screened for fibrillin-1 (FBN1) and TGFBR2 gene mutations by direct sequencing, and a genotype-phenotype study was performed following a review of the literature on TGFBR2 mutations in the search area. Also, the structure of TGFBR2 protein before and after gene mutation was analyzed.RESULTS:The results identified a novel missense TGFBR2 mutation p.V453E (c.1358T>A) in the proband and two relatives that was located in the F-helix in the kinase domain of TGFBR2. No such genetic change was observed in the unrelated controls. No FBN1 mutation was detected in any of the subjects. Genotype-phenotype analyses indicated that F-helix mutations are related to type 2 Marfan syndrome and Loeys-Dietz syndrome, and these mutations can lead to severe cardiovascular (93.8%) and skeletal (81.3%) lesions and minor ocular lesions (25%). Losartan treatment can slow-down the progression of aortic lesions.CONCLUSIONS:The findings extend the mutation spectrum of Marfan syndrome, and that mutations at the F-helix in the kinase domain of TGFBR2 may be associated with the development of severe cardiovascular and skeletal lesions and minor ocular lesions. These findings have implications for genetic testing, diagnosis, and treatment in individuals with transforming growth factor beta (TGF-β) signaling-related disorders.

BACKGROUND:Information about the interactions of single nucleotide polymorphisms (SNPs) and overweight/obesity on serum lipid profiles is still scarce. The present study was undertaken to detect ten SNPs and their interactions with overweight/obesity on serum lipid levels. METHODS:A total of 978 normal weight and 751 overweight/obese subjects of Bai Ku Yao were randomly selected from our previous stratified randomized cluster samples. Normal weight, overweight and obesity were defined as a body mass index (BMI) < 24, 24-28, and > 28 kg/m(2); respectively. Serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) A1 and ApoB levels were measured. Genotyping of ATP-binding cassette transporter A1 (ABCA-1) V825I, acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) rs1044925, low density lipoprotein receptor (LDL-R) AvaII, hepatic lipase gene (LIPC) -250G>A, endothelial lipase gene (LIPG) 584C>T, methylenetetrahydrofolate reductase (MTHFR) 677C>T, the E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP) rs3757354, proprotein convertase subtilisin-like kexin type 9 (PCSK9) E670G, peroxisome proliferator-activated receptor delta (PPARD) +294T>C, and Scavenger receptor class B type 1 (SCARB1) rs5888 was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. The interactions were detected by factorial design covariance analysis. RESULTS:The genotypic and allelic frequencies of LIPC and PCSK9 were different between normal weight and overweight/obese subjects, the genotypic frequency of LIPG and allelic frequency of MYLIP were also different between normal weight and overweight/obese subjects (P < 0.05-0.001). The levels of TC, ApoA1 (ABCA-1); TC, LDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TG, HDL-C, and ApoA1 (LIPG); TC, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); HDL-C and ApoA1 (MYLIP) in normal weight subjects were different among the genotypes (P < 0.01-0.001). The levels of LDL-C, ApoB and ApoA1/ApoB (ABCA-1); HDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TC, HDL-C, ApoA1 and ApoB (LIPG); TC, TG, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); TC, TG and ApoB (MYLIP); TG (PCSK9); TG, ApoA1 and ApoB (PPARD); and TC, HDL-C, LDL-C, ApoA1 and ApoB (SCARB1) in overweight/obese subjects were different among the genotypes (P < 0.01-0.001). The SNPs of ABCA-1 (LDL-C and ApoA1/ApoB); LIPC (TC, LDL-C, ApoA1 and ApoB); LIPG (ApoB); MTHFR (TC, TG and LDL-C); MYLIP (TC and TG); PCSK9 (TG, HDL-C, ApoB and ApoA1/ApoB); PPARD (TG and ApoA1/ApoB); and SCARB1 (TG, ApoA1 and ApoB) interacted with overweight/obesity to influence serum lipid levels (P < 0.05-0.001). CONCLUSIONS:The differences in serum lipid levels between normal weight and overweight/obese subjects might partly result from different genetic polymorphisms and the interactions between several SNPs and overweight/obesity.

Objective: Aortic aneurysm formation leading eventually to aortic rupture or dissection in early adult life is a fatal outcome of Marfan syndrome (MFS). Advances in the treatment of the syndrome have improved prognosis, but the long-term reoperation rate is still high. It remains unknown which factors influence the long-term prognosis, including the reoperation and mortality rates, in surgically treated Chinese patients with MFS. The authors studied 125 such patients to investigate factors influencing prognosis after aortic surgery.Design: A retrospective clinical investigation.Setting: An academic medical center.Subjects: One hundred twenty-five Marfan patients who had undergone aortic surgery.Interventions: None.Measurements and Main Results: The indications for aortic surgery were aortic aneurysm and/or dissection in the 125 Marfan patients. The most commonly performed procedure was the Dental! in 92 patients. Sixteen patients underwent total arch replacement combined with stented elephant trunk implantation. Ten patients underwent the David procedure. Overall in-hospital and 30-day mortality rate was 1.6%. The survival rate was 97.5%, 91.4%, and 74.2% at 1, 5, and 10 years after surgery, respectively. The reoperation rate was 2.5%, 12.9%, and 32.9% at 1, 5, and 10 years after surgery, respectively. Multivariate analysis revealed that increased systolic blood pressure (Sys BP) was the predictor of death (p < 0.05), and body mass index and smoking were significant predictors of reoperation (p < 0.05).Conclusions: The present findings report the factors influencing the prognosis of Chinese patients with MFS after aortic surgical procedures. Managing these risk factors may enable health care professionals to improve the prognosis of MFS patients after aortic surgical procedures. (C) 2011 Elsevier Inc. All rights reserved.

Background Little is known about the interactions of apolipoprotein (Apo) A5 gene polymorphisms and alcohol consumption on serum lipid profiles. The present study was undertaken to detect the interactions of ApoA5–1131T>C, c.553G>T and c.457G>A polymorphisms and alcohol consumption on serum lipid levels. Methodology/Principal Findings A total of 516 nondrinkers and 514 drinkers were randomly selected from our previous stratified randomized cluster samples. Genotyping was performed by polymerase chain reaction and restriction fragment length polymorphism. The levels of serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), ApoA1 and ApoB were higher in drinkers than in nondrinkers (P<0.05–0.001). The genotypic and allelic frequencies of three loci were not different between the two groups. The interactions between –1131T>C genotypes and alcohol consumption on ApoB levels (P<0.05) and the ApoA1/ApoB ratio (P<0.01), between c.553G>T genotypes and alcohol consumption on low-density lipoprotein cholesterol (LDL-C) levels (P<0.05) and the ApoA1/ApoB ratio (P<0.05), and between c.457G>A genotypes and alcohol consumption on TG levels (P<0.001) were detected by factorial regression analysis after controlling for potential confounders. Four haplotypes (T-G-G, C-G-G, T-A-G and C-G-T) had frequencies ranging from 0.06 to 0.87. Three haplotypes (C-G-G, T-A-G, and C-G-T) were significantly associated with serum lipid parameters. The –1131T>C genotypes were correlated with TG, and c.553G>T and c.457G>A genotypes were associated with HDL-C levels in nondrinkers (P<0.05 for all). For drinkers, the –1131T>C genotypes were correlated with TC, TG, LDL-C, ApoB levels and the ApoA1/ApoB ratio (P<0.01 for all); c.553G>T genotypes were correlated with TC, TG, HDL-C and LDL-C levels (P<0.05–0.01); and c.457G>A genotypes were associated with TG, LDL-C, ApoA1 and ApoB levels (P<0.05–0.01). Conclusions The differences in some serum lipid parameters between the drinkers and nondrinkers might partly result from different interactions of the ApoA5 gene polymorphisms and alcohol consumption.

AIM:To assess the effect of beta-blockade therapy on progressive aortic dilatation and on clinical outcome in children and adolescents with Marfan's syndrome (MFS).METHODS:The meta-analysis was instituted, which included studies identified by a systematic review of MEDLINE of peer-reviewed publications. Echocardiogram measurements of the aortic root dimension and outcome measures of mortality and major morbidity were compared between patients who were treated and untreated with beta-blockade therapy.RESULTS:Five studies were included. A total of 224 young patients treated with beta-blocker therapy and 168 patients did not accept medical management. Compared with non-beta-blockade treatment, beta-blockade therapy significantly decreased the rate of aortic dilatation (SMD = -1.30 with 95% CI -2.11 to -0.49). A tendency of clinical outcome beneficial was observed in the beta-blocker treatment group when compared with no beta-blocker treatment group (odds ratio = 0.87 with 95% CI 0.37-2.04).CONCLUSION:There is evidence that beta-blockade therapy can slow down the rate of dilatation of the aorta and has clinical benefits on children and adolescents with MFS.

ABSTRACT Background Aortic dissection is a life-threatening cardiovascular disease with high mortality. Little is known about comparisons of the clinical characteristics or the factors that influence the long-term prognosis of Chinese patients with aortic dissection with and without Marfan syndrome (MFS). Methods The authors studied the data of 246 patients with aortic dissection. The patients were hospitalised for aortic abnormalities from 2004 to 2008 in Fuwai Hospital. Medical charts were reviewed to obtain clinical data using a standardised data collection sheet. Results Of the 246 patients with acute aortic dissection, 56 had MFS. Compared with the non-MFS patients, those with MFS were considerably younger (mean±SD age 35.27±11.11 vs 54.11±11.96 years, p<0.001) and had pre-existing hypertension much less commonly (5.4% vs 80.0%, p<0.001). The patients with MFS presented with a wider ascending aorta diameter (63.60±9.00 vs 38.55±9.44 mm, p<0.001) and a lower body mass index (20.14±2.00 vs 25.62±3.41, p<0.001) than the non-MFS patients. Overall, 91.1% of the MFS patients underwent surgical treatment, whereas 55.78% of the non-MFS patients accepted medical treatment. However, mortality in the two groups did not differ significantly (6 vs 17, p=0.527). Multivariate analysis showed that the aortic diameter (OR=1.072) was a risk factor and surgical treatment (OR=0.006) was a protective factor for the survival of MFS patients with aortic dissection. With increased diastolic blood pressure, mortality decreased in non-MFS patients with aortic dissection (OR=0.905). Conclusions These clinical results could be useful for rapid assessment of the treatment and prognosis of patients with aortic dissection.

Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.

Background Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of LDL-R gene Ava ║ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 1024 subjects of Bai Ku Yao and 792 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LDL-R gene Ava ║ polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum TC, high density lipoprotein cholesterol (HDL-C), LDL-C, apolipoprotein (Apo) A1 and the ratio of ApoA1 to ApoB were lower in Bai Ku Yao than in Han ( P < 0.01 for all). The frequency of A - and A + alleles was 65.5% and 34.5% in Bai Ku Yao, and 80.7% and 19.3% in Han ( P < 0.001); respectively. The frequency of A - A - , A - A + and A + A + genotypes was 42.6%, 45.9% and 11.5% in Bai Ku Yao, and 64.9%, 31.6% and 3.5% in Han ( P < 0.001); respectively. There was also significant difference in the genotypic frequencies between males and females in Bai Ku Yao ( P <0.05), and in the genotypic and allelic frequencies between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C (>3.20 mmol/L) subgroups in Bai Ku Yao ( P < 0.05 for each) and between males and females in Han ( P < 0.05 for each). The levels of LDL-C in males and TC and HDL-C in females were different among the three genotypes ( P < 0.05 for all) in Bai Ku Yao, whereas the levels of HDL-C in males and HDL-C and ApoA1 in females were different among the three genotypes ( P < 0.05-0.001) in Han. The subjects with A + A + genotype had higher serum LDL-C, TC, HDL-C or ApoA1 levels than the subjects with A - A + and A - A - genotypes. Spearman rank correlation analysis revealed that the levels of LDL-C in Bai Ku Yao and HDL-C in Han were correlated with genotypes ( P < 0.05 and P < 0.01; respectively). Conclusions The association of LDL-R gene Ava ║ polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations. The discrepancy might partly result from different LDL-R gene Ava ║ polymorphism or LDL-R gene-enviromental interactions.

Aim: To assess the effect of beta-blockade therapy on progressive aortic dilatation and on clinical outcome in children and adolescents with Marfan’s syndrome (MFS). Methods: The meta-analysis was instituted, which included studies identified by a systematic review of MEDLINE of peer-reviewed publications. Echocardiogram measurements of the aortic root dimension and outcome measures of mortality and major morbidity were compared between patients who were treated and untreated with beta-blockade therapy. Results: Five studies were included. A total of 224 young patients treated with beta-blocker therapy and 168 patients did not accept medical management. Compared with non-beta-blockade treatment, beta-blockade therapy significantly decreased the rate of aortic dilatation (SMD = −1.30 with 95% CI −2.11 to −0.49). A tendency of clinical outcome beneficial was observed in the beta-blocker treatment group when compared with no beta-blocker treatment group (odds ratio = 0.87 with 95% CI 0.37–2.04). Conclusion: There is evidence that beta-blockade therapy can slow down the rate of dilatation of the aorta and has clinical benefits on children and adolescents with MFS.

Both endothelial lipase gene (LIPG) 584C > T (rs2000813) polymorphism and alcohol consumption modulate serum lipid levels. But their interactions on serum lipid profiles are not well known. The present study was undertaken to detect the interactions of LIPG 584C > T polymorphism and alcohol consumption on serum lipid levels. Genotyping of the LIPG 584C > T was performed in 763 unrelated nondrinkers and 520 drinkers aged 15–85 years. The levels of serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI, and the ratio of ApoAI to ApoB were higher in drinkers than in nondrinkers (P < .01 for all). There were no significant differences in the genotypic and allelic frequencies between nondrinkers and drinkers. The levels of TC, HDL-C, and ApoAI in nondrinkers were different among the three genotypes (P < .05–.01), the subjects with CT genotype had higher TC, HDL-C, and ApoAI levels than the subjects with CC genotype. The levels of HDL-C and ApoAI in drinkers were different among the three genotypes (P < .001 and P < .05; respectively), the individuals with TT genotype had higher HDL-C and ApoAI levels than the individuals with CT and CC genotypes. The interactions between LIPG 584C > T genotypes and alcohol consumption on serum HDL-C (P < .01) and ApoAI levels (P < .05) were also detected by using a factorial regression analysis after controlling for potential confounders. The levels of TC in nondrinkers were correlated with LIPG 584C > T alleles (P < .05), whereas the levels of TG and HDL-C were associated with LIPG 584C > T alleles (P < .05) and genotypes (P < .05), respectively. These results suggest that the subjects with TT genotype benefit more from alcohol consumption than the subjects with CT and CC genotypes in increasing serum HDL-C and ApoAI levels.

BACKGROUND:Both apolipoprotein (Apo) C-III gene polymorphism and alcohol consumption have been associated with increased serum triglyceride (TG) levels, but their interactions on serum TG levels are not well known. The present study was undertaken to detect the interactions of the ApoC-III 3238C>G (rs5128) polymorphism and alcohol consumption on serum TG levels.METHODS:A total of 516 unrelated nondrinkers and 514 drinkers aged 15-89 were randomly selected from our previous stratified randomized cluster samples. Genotyping of the ApoC-III 3238C>G was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Interactions of the ApoC-III 3238C>G genotype and alcohol consumption was assessed by using a cross-product term between genotypes and the aforementioned factor.RESULTS:Serum total cholesterol (TC), TG, high-density lipoprotein cholesterol (HDL-C), ApoA-I and ApoB levels were higher in drinkers than in nondrinkers (P < 0.05-0.001). There was no significant difference in the genotypic and allelic frequencies between the two groups. Serum TG levels in nondrinkers were higher in CG genotype than in CC genotype (P < 0.01). Serum TC, TG, low-density lipoprotein cholesterol (LDL-C) and ApoB levels in drinkers were higher in GG genotype than in CC or CG genotype (P < 0.01 for all). Serum HDL-C levels in drinkers were higher in CG genotype than in CC genotype (P < 0.01). Serum TC, TG, HDL-C and ApoA-I levels in CC genotype, TC, HDL-C, ApoA-I levels and the ratio of ApoA-I to ApoB in CG genotype, and TC, TG, LDL-C, ApoA-I and ApoB levels in GG genotype were higher in drinkers than in nondrinkers (P < 0.05-0.01). But the ratio of ApoA-I to ApoB in GG genotype was lower in drinkers than in nondrinkers (P < 0.01). Multivariate logistic regression analysis showed that the levels of TC, TG and ApoB were correlated with genotype in nondrinkers (P < 0.05 for all). The levels of TC, LDL-C and ApoB were associated with genotype in drinkers (P < 0.01 for all). Serum lipid parameters were also correlated with age, sex, alcohol consumption, cigarette smoking, blood pressure, body weight, and body mass index in both groups.CONCLUSIONS:This study suggests that the ApoC-III 3238CG heterozygotes benefited more from alcohol consumption than CC and GG homozygotes in increasing serum levels of HDL-C, ApoA-I, and the ratio of ApoA-I to ApoB, and lowering serum levels of TC and TG.

BACKGROUND:Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneurysms/dissection.METHODS:Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed.RESULTS:We found a novel mutation (c.8547T > G, p.Tyr2849X) in exon 65 of fibrillin-1 gene in a Chinese proband with Marfan syndrome, accompanied by aortic aneurysms/dissection. Sudden death at a young age of affected members was seen due to aortic aneurysms/dissection. By evaluating genotype-phenotype correlations of patients with mutations in the 3' end of fibrillin-1 gene (exons 64 and 65), we also found that the presence of nonsense mutations occurring in exons 64 and 65 appeared to be an indicator of early-onset aortic risk and sudden death.CONCLUSIONS:These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.