Hyperlipoproteinemia (a) is associated with breast cancer in a Han Chinese population.

To investigate the relationship between serum lipoprotein (a) (LP(a)) levels and breast cancer as well as the clinicopathologic characteristics of breast cancer in a Han Chinese population.This study included 314 breast cancer patients, 51 patients with benign breast tumors, and 185 healthy control subjects. All study subjects were Han Chinese with similar socio-economic backgrounds, who were local residents of Zhoushan, Zhejiang, China or who had lived in Zhoushan for a long period of time. Serum concentrations of LP(a) were determined using a latex-enhanced immunoturbidimetric assay. Clinicopathological characteristics of patients were retrieved from medical records, which included the histopathological type, grade, stage, and molecular subtype of the disease, the expression of estrogen receptor (ER), progesterone receptor (PR), HER2, and Ki67, and the level of reproductive hormones. Correlations between 2 groups were evaluated using the Spearman correlation analysis. Associations among ≥3 groups were interpreted using the Kruskal-Wallis H test or the logistic regression test.Elevated serum LP(a) levels were detected in breast cancer patients compared with healthy control subjects, but no significant differences in LP(a) were detected between breast cancer and benign tumor or between benign tumor and healthy control. In breast cancer patients, serum LP(a) levels were inversely associated with HER2 expression, but they were not significantly correlated with any other clinicopathologic characteristics of breast cancer evaluated in this study.Elevated serum LP(a) levels were associated with breast cancer in a Han Chinese population.

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.

Cholesteryl ester transfer protein (CETP) is a plasma glycoprotein that catalyses the transfer of cholesteryl esters from HDL to the other plasma lipoproteins. Genetic deficiency of CETP is one of the known causes of elevation of plasma HDL-C (primary hyperalphalipoproteinemia, HALP). We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. Two unrelated subjects both coming from the same geographical district, were found to be heterozygous for a nucleotide substitution in exon 6 (c.544C>T) and another subject was found to be heterozygous for a C>T transition in exon 9 (c.802C>T). Both mutations introduce a premature stop codon and are predicted to cause the production of truncated proteins (Q165X and R268X, respectively) devoid of function. The fourth proband was found to carry a T>C substitution in intron 15 (c.1407+2T>C) predicted to abolish the function of the donor splice site. To define the effect of this mutation on CETP pre-mRNA splicing we analysed CETP mRNA in COS-1 cells expressing a CETP minigene harbouring the mutation. The analysis of minigene transcript in COS-1 cells showed that IVS15+2T>C mutation caused the formation of an abnormal mRNA in which exon 14 joins directly to exon 16, predicted to encode a truncated peptide of 435 amino acids. In mutation carriers plasma CETP activity was found to be reduced by 38-60%. These are the first mutations in the CETP gene found in Italian subjects with HALP.

The effect of different apo(a) isoforms on plasminogen activation in black South African subjects.

OBJECTIVE: The present study evaluates the effect of different apolipoprotein(a) [apo(a)] isofroms on plasminogen activation. DESIGN: A cross-sectional study. SETTING: A rural village (Dikgale district) in the Northen Province of South Africa. SUBJECT: A total of 90 apparently healthy subjects (64 females and 36 males) aged 43 to 67 years participated in the study. RESULTS: The mean lipoprotein(a) [ Lp(a)] level in the subjects was 38.14 +/- 22.34 mg/dl. No association was found between Lp(a) isoforms. When the ratio of Lp(a):plasminogen was less then 1.3, a competitive inhibition was observed, but when the ratio exceeded 1.3, an uncompetitive inhibition was observed with all isoforms. CONCLUSION: The results of the present study suggest that the inhibition of plasminogen activation by Lp(a) is not dependent of apo(a) size.

Two novel missense mutations in the CETP gene in Japanese hyperalphalipoproteinemic subjects: high-throughput assay by Invader assay.

Cholesteryl ester transfer protein (CETP) deficiency is one of the most important and common causes of hyperalphalipoproteinemia (HALP) in the Japanese. CETP deficiency is thought to be a state of impaired reverse cholesterol transport, which may possibly lead to the development of atherosclerotic cardiovascular disease despite high HDL-cholesterol (HDL-C) levels. Thus, it is important to investigate whether HALP is caused by CETP deficiency. In the present study, we identified two novel missense mutations in the CETP gene among 196 subjects with a marked HALP (HDL-C > or = 2.59 mmol/l = 100 mg/dl). The two missense mutations, L151P (CTC-->CCC in exon 5) and R282C (CGC-->TGC in exon 9), were found in compound heterozygous subjects with D442G mutation, whose plasma CETP levels were significantly lower when compared with those in D442G heterozygous subjects. In COS-7 cells expressing the wild type and mutant CETP, these two mutant CETP showed a marked reduction in the secretion of CETP protein into media (0% and 39% of wild type for L151P and R282C, respectively). These results suggested that two novel missense mutations cause the decreased secretion of CETP protein into circulation leading to HALP. By using the Invader assay for seven mutations, including two novel mutations of the CETP gene, we investigated their frequency among 466 unrelated subjects with HALP (HDL-C > or = 2.07 mmol/l = 80 mg/dl). Two novel mutations were rare, but L151P mutation was found in unrelated subjects with a marked HALP. Furthermore, we demonstrated that CETP deficiency contributes to 61.7% and 31.4% of marked HALP and moderate HALP in the Japanese, respectively.

Identification of apoB-containing lipoprotein families in NIDDM.

The purpose of this study was to determine the concentrations and composition of apoB-containing lipoprotein families in whole plasma and major lipoprotein density classes of a selected group of Native Americans from northeastern Oklahoma with non-insulin-dependent diabetes mellitus. The measurement of lipoprotein density classes showed that the total lipoprotein mass of very-low-density lipoproteins was significantly higher and that of high-density lipoproteins significantly lower in diabetic patients than nondiabetic control subjects regardless of their plasma triglyceride levels. The VLDLs were enriched with TG, free cholesterol, and apolipoproteins C-III and E. HDLs were enriched with TG but depleted of apoC-III and apoE. There was no change in the levels of TG-enriched low-density lipoproteins. Fractionation of VLDL by sequential immunoprecipitation with antisera to apoE and apoC-III established that increased concentrations of this density class in diabetic patients are due to elevated levels of TG-rich lipoprotein LP-B:C and lipoprotein LP-B:C:E. The levels of LP-B:C particles were increased more than the levels of LP-B:C:E particles. The LDLs were characterized by a slight increase in TG-enriched lipoprotein B and no change in the levels of LP-B:C and LP-B:C:E. There was no difference between diabetic patients with or without vascular disease in the levels of LP-B and LP-B:C:E. However, patients with vascular disease had higher concentrations of LP-B:C particles in VLDL and whole plasma than patients without vascular disease.(ABSTRACT TRUNCATED AT 250 WORDS)

[Characteristics of the blood lipoprotein spectrum in truck drivers from the rural Northern Caucasus areas]. / Kharakteristika lipoproteidnogo spektra krovi u voditelei avtotransporta sel'skikh raionov Severnogo Kavkaza.

Studies were performed of the blood lipoprotein spectrum in 20-59-year-old truck-drivers working in Northern Caucasus rural areas, depending on the age, duration of work in the profession and nationality, in comparison with male workers of other professions in the same areas. It was established that, in indigenous male workers of other than truck-driver's profession, the average levels of different cholesterol lipoproteids were lower than in other ethnic groups, whereas the hypoalfacholesterolemia occurrence was two-fold. In truck-drivers of both indigenous and non-indigenous groups, the lipoprotein spectrum age-related changes were similar. In the non-indigenous drivers' group, hypercholesterolemia was highly prevalent, and hyperalfacholesterolemia was less prevalent than in other professional groups. Also, IHD cases were more characteristic of the indigenous drivers' group. The data obtained witnessed in favour of a differentiated approach in the planning of preventive activities with due account of the population's ethnic and occupational characteristics.

[Nutrition characteristics and the incidence of dyslipoproteinemia and ischemic heart disease among the population of the Buryat ASSR]. / Osobennosti pitaniia, rasprostranennos't dislipoproteidemii i ishemicheskoi bolezni serdtsa u zhitelei Buriatskoi ASSR.

The paper presents the data on dietary habits, blood lipid composition, and prevalence of coronary heart disease in native and non-native populations from Buryatia. They were obtained by using epidemiological (assessment of amounts of the food ingredients consumed) and biochemical (measurement of blood levels of total cholesterol, triglycerides, and high density lipoprotein cholesterol) methods. Differences were demonstrated in dietary habits between the native and non-native populations from Buryatia. The differences were shown to be associated with the prevalence of dyslipoproteinemias and coronary heart disease in these population groups.

Parental history of cardiovascular disease as an indication for screening for lipoprotein abnormalities in children.

We studied the relationship between parental history of cardiovascular disease and risk for adverse lipid and lipoprotein levels in a total community study of 3313 children (ages 4 to 17 years, 63% white, 37% black). Older white children (11 to 17 years) with a parental history of heart attack or diabetes were 4.3 and 5.6 times, respectively, more likely to have high levels (greater than or equal to 95th percentile) of serum total cholesterol than those without such a history (all p less than 0.05). White children with a parental history of heart attack or diabetes were twice as likely to have an elevated (greater than or equal to 95th percentile) low-density lipoprotein cholesterol (LDL-C) level than those without such a history (both p less than 0.05). In contrast, parental history of cardiovascular disease did not predict elevated levels of total cholesterol or LDL-C in black children. However, older black children with a parental history of heart attack, hypertension, or diabetes were 4 1/2 to 5 times more likely to have low levels (less than or equal to 5th percentile) of high-density lipoprotein cholesterol than those without such a history (all p less than 0.05). Only 40% of white children and 21% of black children with elevated LDL-C levels had a parental history of vascular disease. These findings raise questions about the current practice of screening only children with a family history of cardiovascular disease to identify those with elevated total cholesterol and LDL-C levels.

Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.

We examined 56 French Canadians, aged 1 week to 54 years, from eastern Quebec who were referred to the Laval University Lipid Research Centre and in whom coincidental finding (in 46% of the cases), abdominal pain (in 32%) or family screening (in 22%) led to the diagnosis of primary lipoprotein-lipase-activity deficiency (familial hyperchylomicronemia). Half of the patients had one or more of the following signs: lipemia retinalis, eruptive xanthomas, splenomegaly and hepatomegaly; the plasma triglyceride concentrations were significantly higher (greater than 40 mmol/L) among these patients than among those without clinical signs (mean 21.7 [standard deviation 13.5] mmol/L). The prevalence rate of this disorder was 30 times higher than the previously published rate and was highest in the counties of Charlevoix and Saguenay-Lac-St-Jean (200 and 100 cases per million respectively) because of the distinct demographic history of these areas. Because of a founder effect an autosomal recessive gene involved in lipoprotein-lipase expression or activation has probably been disseminated among this isolated French Canadian population.

Apolipoprotein E phenotypes of normo- and hyperlipoproteinemia in Japanese.

Apolipoprotein E phenotypes of normo- and hyperlipoproteinemia in Japanese were examined by the disc gel isoelectric focusing technique, which was modified according to the method of Kashyap et al. (1981). Apoprotein E isoproteins were clearly separated by this method. Six phenotypes (E2/2, E3/3, E4/4, E2/3, E2/4 and E3/4) were determined in 107 cases of normolipoproteinemia and 75 cases of hyperlipoproteinemia. In normolipoproteinemia, apoE phenotype frequencies were similar to those of the Japanese and Caucasian populations which were reported previously. In hyperlipoproteinemia, a higher frequency of phenotype E2/2 and a lower frequency of E3/3 were observed. The apo E phenotypes of type IIa and IIb were distributed similarly to that of normal subjects. In contrast, only 27.8% of type IV patients had E3/3 phenotype. Among type V patients 64.3% was homozygous or heterozygous for E-4, and only 14.3% was homozygous for E-3 (E3/3). The results suggest that the apolipoprotein E phenotypes are similarly distributed among different human races and the apolipoprotein E phenotypes could be one of the etiological factors associated with some types of hyperlipoproteinemia.

[Relation of basic risk factors for ischemic heart diseases to the consumption of foodstuffs based on population research data]. / Sviaz' osnovnykh faktorov riska ishemicheskoi bolezni serdtsa s potrebleniem pishchevykh veshchestv po dannym populiatsionnogo issledovan

Actual nutrition and its association with risk factors of coronary heart disease (CHD) were studied in a population of males aged 50-54 years living in Tallinn, as a whole and with regard to their nationality. Imbalance, as well as difference in the nutrition of the Estonians and Russians have been revealed. The incidence rate of CHD is directly associated with the total fat consumption; arterial hypertension is associated with alcohol intake; excessive body weight--with low consumption of polyunsaturated fatty acids (PUSFA), low ratios of PUSFA and saturated fatty acids (SFA), and with high protein consumption. Inverse relationship of cholesterol and high-density lipoprotein (HDLP) content with fat consumption, and direct relationship with other complex carbohydrates have been recorded. Triglyceride content is directly related with the consumption of fats, proteins and complex carbohydrates, and inversely related with PUSFA consumption, cholesterol content is in inverse relationship with starch consumption.