BACKGROUND AND OBJECTIVES: The plasma lipid levels play crucial roles in the development of atherosclerotic diseases. We estimated the genetic variance of the lipid levels according to the contributions of the single nucleotide polymorphisms (SNPs) and haplotypes in 5 candidate genes. SUBJECTS AND METHODS: We selected SNPs in the ATP binding cassette A1 (ABCA1) gene, the apolipoprotien A5 (APOA5), apolipoprotien E (APOE) gene, the cholesterol ester transfer protein (CETP) gene and the hepatic triglyceride lipase (LIPC) gene in 383 individuals from 100 Korean families. The genotype was determined by Orchid's SNP-IT(TM) technology. The association analysis of the quantitative traits was performed using the quantitative transmission disequilibrium test. RESULTS: A component analysis of the phenotypic variance explained 24.7% of the genetic variance on the total cholesterol, 26.4% of the genetic variance of the high density lipoprotein (HDL)-cholesterol, 11% of the genetic variance of the triglycerides, 35.6% of the genetic variance of the low density lipoprotein (LDL)-cholesterol and 18.9% of the genetic variance of the LDL-C/HDL-C, respectively. The association of the SNPs in the candidate genes explained a major fraction of the genetic phenotypic variance in the LDL-C/HDL-C ratio, but not in the other lipid profiles. The association with SNPs explained 38.5% of the variance for the total cholesterol, 32.2% of the variance for HDL-cholesterol and 29.5% of the variance for LDL-cholesterol relative to the polygenic background. An analysis of the contribution of each gene to the genetic variance showed that ABCA1, APOE, CETP and LIPC influenced the variations in total cholesterol, LDL-cholesterol and LDL-C/HDL-C. The variation in HDL-cholesterol was influenced by ABCA1, APOA5 and APOE. CONCLUSION: We identified that the genetic variance for the total cholesterol, HDL-cholesterol and LDL-cholesterol, and the LDL-C/HDL-C ratio was significantly influenced by the genetic polymorphisms in 5 candidate genes in the Korean population. Further studies are necessary to identify other genes that can explain a major fraction of the genetic variance for the lipid levels.
Adenosine Triphosphate ; Apolipoproteins E ; Cholesterol ; Genotype ; Haplotypes ; Humans ; Lipase ; Lipoproteins ; Plasma ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Triglycerides

The authors evaluated the incidence of hip fracture and subsequent mortality in Korea using nationwide data obtained from the Health Insurance Review and Assessment Service. This study was performed on patient population, aged 50-yr or older who underwent surgical procedures because of hip fracture (ICD10; S720, S721). All patients were followed using patient identification code to identify deaths. Crude hip fracture rates increased from 191.9/100,000 in 2005 to 207.0/100,000 in 2008 in women and from 94.8/100,000 in 2005 to 97.8/100,000 in 2008, in men respectively. Crude mortality within 12 months after hip fracture showed a similar trend (18.8% in 2005 and 17.8% in 2007). The mean of standardized mortality ratio of hip fracture was 6.1 at 3 months, 3.5 at 1 yr, and 2.3 at 2 yr post-fracture. The increasing incidence and the high mortality after hip fracture are likely to become serious public health problems and a public health program should begin to prevent hip fractures in Korea.
Aged ; Aged, 80 and over ; Female ; Hip Fractures/*epidemiology/mortality ; Humans ; Incidence ; Male ; Middle Aged ; Republic of Korea/epidemiology

Platelet membrane receptor glycoproteins (GP) are essential for the platelet activation process, and the genetic polymorphisms in the genes that encode platelet glycoproteins have been proposed to influence the risk of acute coronary syndrome and atherosclerosis. In this study, we investigated the role of GPIa, HPA-1 and HPA-3 polymorphisms as putative risk factors for myocardial infarction (MI) and the extent of coronary artery disease. We selected 1, 073 subjects who underwent coronary angiography; 242 had normal or minimal coronary atherosclerosis, and 831 patients had significant coronary artery disease (CAD). The genotype was determined by the methods of single base extension for C807T/G873A polymorphisms of GPIa, and restriction fragment length polymorphism for HPA-1 and HPA-3. The C807T and G873A polymorphisms of GPIa showed complete linkage in the Korean population. For HPA-1 gene polymorphism, only the HPA-1a/a (PlA1/A1) genotype was observed in 192 selected subjects from our study population. The distribution of GPIa (C807T/G873A) and HPA-3 genotypes did not differ significantly between normal subjects and CAD subjects. No significant association between MI and both gene polymorphisms was present. However, for the subgroup analysis of young male patients whose age was less than 56 years, the genotype frequency of HPA-3b/b was significantly lower in patients with MI compared to patients without a history of MI (7.5% vs. 20.0%, p=0.04). The odds ratio for HPA-3 b homozygosity versus the HPA-3a carrier was 0.32 (95% CI, 0.10- 0.99, p=0.04). Conclusively, HPA-3 polymorphism was associated with MI in Korean individuals younger than 56 years of age, but other polymorphisms of GP, which we studied, were not associated with both the extent of coronary atherosclerosis or MI.
Aged ; Coronary Arteriosclerosis/epidemiology/*genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease/epidemiology ; Genotype ; Human ; Integrin alpha2/*genetics ; Integrin beta3/*genetics ; Korea ; Male ; Middle Aged ; Myocardial Infarction/epidemiology/*genetics ; Platelet Membrane Glycoprotein IIb/*genetics ; *Polymorphism (Genetics) ; Risk Factors ; Support, Non-U.S. Gov't

BACKGROUND AND OBJECTIVES: The renin-angiotensin system (RAS) genes have been studied extensively as etiologic essential hypertension (EH) candidate genes in human populations worldwide. The angiotensin I-converting enzyme (ACE) plays an important role in the RAS for the regulation of blood pressure. Recent reports on the association of ACE gene polymorphisms with EH and the related cardiovascular diseases have been controversial. Therefore, this study investigated the association of three polymorphisms (I/D, G14480C and A22982G) in the ACE gene with EH in Koreans. SUBJECTS AND METHODS: This study recruited a sample population of 887 Koreans (comprising of 461 controls and 426 EH cases) from Cardiovascular Genome Center in Korea. The ACE gene polymorphisms were determined by a polymerase chain reaction and a SNP-IT assay. RESULTS: The genotype and the allele frequencies of all three polymorphisms in the hypertensives and the normotensives not significantly different (p>0.05). In the female control group, there was a significant difference in SBP among the genotype with the I/D polymorphism (p<0.05). There was also an association between the ACE polymorphisms and the hypertensive male group with the total cholesterol level. Haplotype analysis showed that none of the haplotypes were significantly associated with hypertension. CONCLUSION: ACE polymorphisms do not appear to have any apparent association with essential hypertension in Koreans, who have a more homogeneous genetic structure than other ethnic groups.
Asian Continental Ancestry Group ; Blood Pressure ; Cardiovascular Diseases ; Cholesterol ; Ethnic Groups ; Female ; Gene Frequency ; Genetic Structures ; Genome ; Genotype ; Haplotypes ; Humans ; Hypertension* ; Korea ; Male ; Peptidyl-Dipeptidase A ; Polymerase Chain Reaction ; Renin-Angiotensin System

BACKGROUND: There has been lack of epidemiology of proximal humerus fracture using nationwide database in Asia. The purpose of this study was to investigate the incidence of proximal humerus fracture and its mortality following proximal humerus fracture in Korean over 50 years of age. METHODS: The Korean National Health Insurance data were evaluated to determine the incidence and mortality of proximal humerus fracture aged 50 years or older from 2008 through 2012. RESULTS: Proximal humerus fracture increased by 40.5% over 5 year of study. The incidence of fracture increased from 104.7/100,000 in 2008 to 124.7/100,000 in 2012 in women and from 45.3/100,000 in 2008 to 52.0/100,000 in 2012 in men, respectively. One year mortality rate after proximal humerus fracture was 8.0% in 2008 and 7.0% in 2012. One year mortality rate were 10.8% for men and 7.0% for women in 2008 and 8.5% for men and 6.4% for women in 2012. CONCLUSIONS: Our study showed that the proximal humerus fracture in elderly was recently increasing and associated with high mortality in Korea. Considering proximal humerus fracture was associated with an increased risk of associated fractures and an increased mortality risk, public health strategy to prevent the proximal humerus fracture in elderly will be mandatory.
Aged ; Asia ; Epidemiology ; Female ; Humans ; Humeral Fractures ; Humerus* ; Incidence* ; Korea ; Male ; Mortality* ; National Health Programs ; Osteoporotic Fractures ; Public Health

BACKGROUND: Although osteoporosis is increasing in the elderly population, attempts to analyze the patterns of medical service utilization for osteoporosis are currently not sufficient. The medical services and treatment patterns were investigated using Korea's National Health Insurance claims data, which includes all of the Korean population. METHODS: Through the patient identification algorithm developed by using the administrative claims data in 2007, the adult patients (between 50-100 years) with osteoporosis were identified. The age and gender of the patients who used medical service for osteoporosis were described, in relation with six dichotomous variables. The medical service use patterns such as the type of medical institution and conducting bone mineral density measurement were investigated. RESULTS: The number of patients who used medical service were 1,230,580 (females 89.9%). Sixty one point six percent of the patients were prescribed osteoporosis medicine (indicated for osteoporosis only), and 12.9% of the patients had experienced osteoporotic fracture. The primary medical institutions for treatment were clinics (54.3%), while hospitals were mainly used among the patients with a history of fracture and disease or drug use that may induce secondary osteoporosis. The number of visited medical institutions was 6.4 (as an outpatient) and 0.2 (as admissions) during 6 months. The proportion of patients who conducted bone mineral density measurements within one year before and after the diagnosis of osteoporosis was 66.7% and DXA was the most frequently used densitometry (46.3%). The average number of days for the prescriptions for osteoporosis medicine was 70 days. CONCLUSION: In order to prevent further osteoporotic fractures, appropriate management and treatment should be implemented for osteoporosis patients. To do this, we need to understand the current state of medical service utilization and the treatment of osteoporosis using the National Health Insurance claims data.
Adult ; Aged ; Bone Density ; Densitometry ; Humans ; National Health Programs ; Osteoporosis ; Osteoporotic Fractures ; Prescriptions

Although first-line treatment option for single, small sized hepatocellular carcinoma in patients with preserved liver function and good performance status is resection or ablation, sometimes these modalities cannot be applied for variable reasons. For them, alternative options such as transarterial chemoeombolization, ethanol injection, and external radiation therapy can be considered, with variable success rates. Herein, we describe 45 year-old male who presented with a single small tumor located at caudate lobe. After multi-disciplinary discussion, the patient was treated with proton beam therapy, which resulted in favorable treatment outcome.
Carcinoma, Hepatocellular ; Ethanol ; Humans ; Liver ; Male ; Proton Therapy ; Protons ; Treatment Outcome

PURPOSE: The aim of this study was to develop and validate identification criteria for the cases of osteoporotic hip fracture using the National Health Insurance Database, and we calculated the incidence rate of osteoporotic hip fracture in the Korean population using these criteria. MATERIALS AND METHODS: The criteria to identify osteoporotic hip fracture using a diagnosis code, a procedure code, the type and number of medical service usages and the patients' ages were developed via discussions among experts. These criteria were validated by using a hip fracture cohort in which all the genuine osteoporotic hip fracture patients in the Jeju area were identified by reviewing the registered medical records and radiographs. By applying the identification criteria to the National Health Insurance Database that was accumulated until June 2009, we calculated the incidence rate of osteoporotic hip fracture in patients between 50 and 100 years of age in 2008. RESULTS: The identification criteria had a sensitivity of 93.1% and a positive predictive value of 77.4%. A total of 20,432 osteoporotic hip fracture cases were identified in 2008, and the incidence rate was 15.7 cases per 10,000 persons. The osteoporotic hip fracture incidence rate for females was 20.7 (per 10,000persons), and this was 2.1 times higher than that for the males (9.8case per 10,000persons), and the rates were increased with age. CONCLUSION: The incidence of osteoporotic hip fracture that occurred on a nationwide scale can be more precisely estimated by using the National Health Insurance Database with its comprehensive information on the overall details of treatment as well as the diagnosis codes, and so the incidence of osteoporotic hip fracture can be reliably calculated for each year. The results from this research could be used as evidence in a hip fracture management plan for establishing Korean Health policy.
Cohort Studies ; Female ; Health Policy ; Hip ; Humans ; Incidence ; Male ; Medical Records ; National Health Programs