Association of the Tumor Necrosis Factor-alpha Gene Polymorphism with End-Stage Kidney Failure / 대한신장학회잡지

BACKGROUND: It is evident that cytokines play a role in the pathogenesis as well as the progression of renal diseases. The purpose of this study was to determine whether cytokine gene polymorphism is a marker of susceptibility to end-stage kidney failure (ESKF) in Korean populations. METHODS: -308 G/A polymorphism of tumor necrosis factor-alpha (TNF-alpha) gene was genotyped in 257 dialysis patients and 277 age-matched healthy controls, 86 NIDDM patients with kidney failure and 102 NIDDM controls without nephropathy. RESULTS: We found a decreased frequency of TNF-alpha allele 2 (TNF2, 2.9%) in ESKF patients compared to healthy controls (7.5%, p<0.05). We also found a decreased frequency of TNF-alpha allele 2 (TNF2, 2.3%) in NIDDM patients with kidney failure compared to NIDDM controls without nephropathy (7.6%, p<0.05). The carriage rate of TNF2 was significantly lower in NIDDM patients with kidney failure than in NIDDM controls without nephropathy (4.4% vs. 13.2%, p<0.05). In addition, allele frequency of TNF2 were remarkably different from those previously reported, indicating a significant ethnic difference. CONCLUSION: There is a significant ethnic difference in the polymorphism of TNF-alpha gene. The non-carriage TNF2 was more prevalent in the kidney failur group. But, we could not determine any association between the TNF-alpha gene polymorphism and the development of kidney failure.

Variation of the promoter of apolipoprotein C-III with hyperlipidemic patients / 대한내과학회지

BACKGROUND: Hypertriglyceridemia and hypercholesterolemia have been associated with atherosclerosis, myocaridal infarction, and premature death. However, the causes of hyperlipidemia are not well understood. Variations in apolipoprotein C-III (apo C-III) are candidate for contributing to the occurrence of hypertriglyceridemia. A genetically variant form of human apo C-III promoter, containing five single base pair changes, has been shown that it seems to be associated with hypertriglyceridemia. Especially, the loss of insulin regulation was mapped to polymorphic sites at -482 and -455, which fall within an insulin response element. METHODS: We studied 146 subjects with hyperlipidemia and also had 94 controls. Screening for mutations at codon -482 and -455 of apo C-III promoter were carried out by PCR-RFLP analyses. RESULTS: 1) In the codon -482 site of the patient group, the genotype frequency of T/T homozygote was higher than in the control group, whereas the frequency of T/C heterozygote and C/C homozygote were lower. 2) Serum triglyceride related to genotype shows positive correlation trend with freguency of -482 T allele and -455 C allele, but has not stastistical significancy. 3) In complete mutated groups of both -482 T/T and -455 C/C in hyperlipidemia patients, serum triglyceride and fasting blood glucose are higher than in wild type groups of both -482 C/C and -455 T/T. CONCLUSION: We suggest that variations of the promoter of apolipoprotein C-III may be a genetic marker in patients with hyperlipidemia.

A Case of Cystic Parathyroid Adenoma Presenting as Severe Bony Lesion / 대한내분비학회지

A cystic parathyroid adenoma is rare. A case of primary hyperparathyroidism, with the cystic formation of a parathyroid adenoma and a severe bony lesion, is reported. A 52-year-old male was admitted due to pain in both hips and for evaluation of hypercalcemia. The plasma level of the intact parathyroid hormone(iPTH) was elevated to 1424pg/mL. Ultrasonography and the computed tomography revealed a parathyroid cyst on the left thyroid lower pole. Parathyroid scintigraphy detected a parathyroid adenoma. A radiograph showed a subperiosteal bone resorption on the phalanges, and a brown tumor(osteitis fibrosa cystica) on the femur shaft was noted. A surgical excision of the parathyroid adenoma was performed. The PTH level in the cystic fluid was increased. A histological examination confirmed a cystic parathyroid adenoma. The PTH level was normalized after the operation.