Association analysis of single nucleotide polymorphisms of proinflammatory cytokine and their receptors genes with rheumatoid arthritis in northwest Chinese Han population.

OBJECTIVE: To analyze the relationship of genetic polymorphisms in IL1ß, IL6, TNF-α genes and their receptors genes with rheumatoid arthritis (RA) for northwest Han Chinese. This study also explores whether there are gene-gene interactions among these genetic polymorphisms. METHODS: A total of 452 patients with RA and 373 matched healthy controls were enrolled to carry out a case-control study for 16 SNPs of IL1B-511 C>T, IL1B-31 T>C, IL1B+3954 C>T, IL1RN T>C, IL6-597 G>A, IL6-572 G>C, IL6-174 G>C, IL6R-183 G>A, IL6R exon2 T>A, IL6R exon1 A>C, TNFA-863 C>A, TNFA-857 C>T, TNFA-308 G>A, TNFA-238 G>A, TNFR1-383 A>C and TNFR2 T676G T>G from seven genes. Genotyping for the SNPs was conducted on the RotorGene 6000 PCR platform using in-house high resolution melting (HRM) approaches. Detection correctness was validated through direct sequencing. Generalized multifactor dimensionality reduction (GMDR) analysis was applied to discover likely gene-gene interaction model among the SNPs. RESULTS: The results showed that the genotype distributions of TNFA-308, TNFA-857 and TNFA-863 are significantly different between case and control groups (P=0.016, P=0.048 and P=0.016, respectively). Carriers of TNFA-857 mutant allele conferred risk to RA (OR=1.525, 95% CI=1.157-2.009) while those of TNFA-308 and TNFA-863 mutant alleles conferred protection to RA (OR=0.459, 95% CI=0.286-0.739; OR=0.490, 95% CI=0.329-0.732). GMDR analysis for the SNPs indicated that gene-gene interaction existed among IL1B-31, IL1RN, IL6-572, IL6R-183, IL6R-exon1 and TNFA-857. Thirteen of all genotypes of the six SNPs combination were discovered to have significant distribution difference between RA group and the control. CONCLUSIONS: This study demonstrated that PCR-HRM assay is a highly efficient SNP genotyping method especially for the detection of large-scale samples. The SNPs of TNFA-308 and TNFA-863 are closely associated with RA susceptibility and that gene-gene interactions may occur among the six SNPs of IL1B-31, IL1RN, IL6-572, IL6R-183, IL6R-exon1 and TNFA-857 in RA patients from northwest Chinese Han population, especially these SNPs' combination genotypes CT/TT/CC/GG/AC/CC, CT/TT/GC/AA/AC/CT and CT/CT/CC/GA/AC/CC to show high risk of RA susceptibility in our study.

A preoperative parathyroid scan is important for the total removal of the transplanted parathyroid tissue in recurrent secondary hyperthyroidism: A case report and literature review.

RATIONALE: Secondary hyperparathyroidism was one of mineral and bone disorders owing to chronic kidney disease. Patients who suffer from secondary hyperparathyroidism would receive medical treatment or parathyroidectomy with or without autotransplantation (AT). However, some patients receiving parathyroidectomy with AT have recurrent hyperparathyroidism, which impacts their lives. Patients with recurrent hyperparathyroidism may present persistent hypercalcemia and hyperphosphatemia, which would cause cardiovascular disease, like atherosclerosis. PATIENT CONCERNS: A 63-year-old female of Asian descent with chronic kidney disease who suffered from recurrent hyperparathyroidism for twice. The patient underwent parathyroidectomy with AT in the left thigh when secondary hyperparathyroidism happened. After 3 months, recurrent hyperparathyroidism happened. DIAGNOSIS: The patient was diagnosed with recurrent hyperparathyroidism due to chronic kidney disease with hyperparathyroidism status post parathyroidectomy with AT in the left thigh. Our patient also suffered from mineral and bone disorder. INTERVENTION: Two parathyroid adenoma in the left thigh were found. However, one of them was too small to found in the operation. Therefore, autograftectomy of the large one was performed. However, hyperparathyroidism happened again. This time, the autograftectomy was performed under dual phase Tc-99m MIBI (99m Tc-methoxy isobutyl isonitrile) parathyroid scintigraphy and it succeeded. OUTCOMES: After secondary autograftectomy, the value of intact parathyroid hormone was surveyed immediately and dropped by two-third followed by gradual reduction in the following weeks. The calcemia and phosphatemia were back to normal gradually. LESSONS: In our case, importance of scintigraphy in the parathyroidectomy was confirmed.