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

Budd-Chiari syndrome (BCS) is defined by the obstruction of the hepatic venous outflow between the small hepatic veins and the junction of the inferior vena cava (IVC) with the right atrium. BCS with IVC obstruction occasionally progresses to hepatocellular carcinoma (HCC). Here, we report the case of a patient with HCC arising from a cirrhotic liver with BCS, in whom the hepatic portion of the IVC was obstructed, and who had a favorable outcome with a multidisciplinary approach and IVC balloon angioplasty.

Background: Angiotensin type II receptor blockers (ARBs) are the most widely used antihypertensive drugs. This study aimed to elucidate the likelihood and pattern of ARB-induced liver injury in a hospital-based cohort. Methods: Data of patients receiving fimasartan (n = 5,543), candesartan (n = 6,406), valsartan (n = 6,040), and losartan (n = 9,126) were retrieved from the clinical data warehouse of two tertiary hospitals. Patients with alanine aminotransferase (ALT) levels > 5 times the upper normal limit were assessed according to the Roussel Uclaf Causality Assessment Method (RUCAM). Results: A total of 27,115 patients were enrolled, including 14,630 (54.0%) men, with a mean age of 64.6 years (standard deviation, 13.6). During 31,717 person-years of ARB therapy, serum ALT levels > 120 IU/L were found in 558 (2.1%) person-years, and levels > 200 IU/L were found in 155 (0.6%) person-years. The incidence of ALT elevation > 120 IU/L per 10 6cumulative defined daily doses was 6.6, 3.6, 3.9, and 4.0 in the fimasartan, candesartan, valsartan, and losartan groups, respectively (P = 0.002). An ALT level > 200 IU/L with RUCAM score ≥ 6 was found in 20 patients, suggesting probable drug-induced liver injury for 11 (0.2%) patients receiving fimasartan, five (0.1%) receiving candesartan, four (0.1%) receiving valsartan, and none receiving losartan (P < 0.001). Conclusion Approximately 2% of patients receiving ARB therapy had significant ALT elevation (4.24/10 6 cumulative defined daily doses [cDDDs]), which was associated with probable ARB-related liver injury in 0.07% of patients (0.15/10 6 cDDDs). Elevation of ALT was more commonly associated with fimasartan than the other ARBs. Clinicians should be aware of the possibility of ARB-related ALT elevation in patients with unexplained chronic abnormal ALT.

Membranous obstruction of the inferior vena cava (MOVC) is a rare subset of Budd-Chiari syndrome (BCS) with a subacute onset that is often complicated by cirrhosis and hepatocellular carcinoma (HCC). Here we report a case of recurrent HCC in a patient with cirrhosis and BCS that was treated with several episodes of transarterial chemoembolization followed by surgical tumorectomy, whereas the MOVC was successfully treated with balloon angioplasty followed by endovascular stenting. The patient was followed up for 9.9 years without anticoagulation and experienced no stent thrombosis. After the tumorectomy, the patient was HCC-free for 4.4 years of follow-up.

Background/Aims: There are limited studies on the management of hepatic hemangiomas (HHs). We investigated the proportion and predictors of surgical resection and analyzed HH growth rates in addition to associated factors. Methods: A retrospective case-control study of patients treated in 2 centers was conducted. Thirty-six patients who underwent surgical resection were assigned to the case group. Patients who did not undergo surgical treatment were randomly sigselected at a 1:10 ratio and assigned to the control group (n = 360). Baseline characteristics, clinical course and surgical outcomes were analyzed. Results: The proportion of surgically treated HH patients was 0.3% (36 per 11,049). The longest diameter at diagnosis (mean ± standard deviation) was 7.7 ± 5.2 cm in the case group and 2.4 ± 1.8 cm in the control group (p < 0.001). In the multivariate analysis, the presence of more than 2 HHs (odds ratio [OR] 7.64, 95% confidence interval [CI] 1.40–41.72) and a growth rate of more than 4.8%/year (OR 30.73, 95% CI 4.86–194.51) were independently associated with surgical treatment. Symptom development during follow-up was related to HH size > 10 cm (OR 10.50, 95% CI 1.06–103.77, p = 0.04). The subgroup analysis showed substantial growth in 41.3% with an overall mean annual growth rate of 0.14 cm. Conclusions Approximately one in 300 patients with an HH underwent surgical treatment. Multiple HHs and a growth rate of more than 4.8%/year were indications for surgical treatment. Nearly half of the HHs showed growing pattern in our study.

Background: The worldwide incidence of renal disease diagnosed by a kidney biopsy varies with age, race, sex, and region. Owing to a lack of studies and limited research resources for this disease in Korea, we investigated renal disease patterns by analyzing data from kidney biopsies performed over 13 years in a university-based teaching hospital in Korea. Methods: Among 2,053 kidney biopsies performed from 2001 to 2013 at Kyungpook National University Hospital, 1,924 were retrospectively analyzed for histopathologic, demographic, and clinical data as well as laboratory results. Results: Among the 1,924 studied kidney biopsies, 1,078 were males (56.0%) and the mean age was 37.7 ± 16.5 years. Asymptomatic urinary abnormalities were the most common clinical manifestation (62.5%). Immunoglobulin A nephropathy (IgAN) was the most common primary glomerular disease (37.4%), followed by minimal change disease (MCD), membranous nephropathy (MN), focal segmental glomerulonephritis and crescentic glomerulonephritis. Secondary glomerular diseases accounted for 10.3% of the total biopsies, with lupus nephritis being the most common (4.6%) followed by Henoch-Schönlein purpura nephritis and diabetic nephropathy. The most common cause of nephrotic syndrome was MCD (42.1%) followed by MN. Among patients seropositive for hepatitis B or C, IgAN (28.3% and 21.4%, respectively) was the most common cause. Conclusion IgAN and lupus nephritis were the most common primary and secondary glomerular diseases, respectively. Race, region, and practice patterns may affect renal disease patterns in different cohorts.