Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.

PURPOSE: The aim of this study was to evaluate the association of three single nucleotide polymorphisms (SNPs, rs11712066 and rs573872 near MBNL1, rs29784 near NKX2-5) with infantile hypertrophic pyloric stenosis (IHPS) in Chinese Han population. METHODS: A total of 47 family trios consisting of infants with IHPS and their healthy biological parents were recruited for this study. Genotypes were determined using direct sequencing. Transmission disequilibrium test (TDT) was performed for family-based association analysis. RESULTS: Genotypic distributions of three SNPs in both groups (patients and proband's parents) were in conformity with Hardy-Weinberg equilibrium (P > 0.05). There were significant preferential transmission of A allele of rs29784 from the parents to affected offspring (TDT: x(2) = 5.444, P = 0.0196). However, other two polymorphism loci (rs11712066 and rs573872) were not significant susceptibility loci for IHPS in Chinese Han population. CONCLUSIONS: We found that there was a significant association between rs29784 and IHPS.

[Expression of NK cells receptor NKG2D from peripheral blood in patients with primary hepatic carcinoma and its clinical significance].

OBJECTIVE: To investigate the expression of NK cells receptor NKG2D from peripheral blood in patients with primary hepatic carcinoma and the relationship between NKG2D expression and cytotoxicity of NK cells. METHODS: Flow cytometry was used to determine the number of NK cells and the expression of NK cells receptor NKG2D from peripheral blood in patients with primary hepatic carcinoma (20 cases), hepatitis B cirrhosis (23 cases), hepatitis B (20 cases) and healthy control (20 cases). The microplate reader was used to detect cytotoxicity of NK cells in all cases. RESULTS: Among killing rate of NK cell for K562 cell, the expression rate of NKG2D in NK cells, the number of NKG2D(+)NK cells, NKG2D expression level of NK cells and the number of NK cells, the liver cancer group [(25 +/- 7)%, 6%, 0.7 x 10(7)/L, 15, (1.1 +/- 0.6) x 10(8)/L] decreased significantly as compared with the healthy group [(63 +/- 7)%, 36%, 8.3 x 10(7)/L, 116, (2.7 +/- 1.1) x 10(8)/L] and the hepatitis B group [(41 +/- 8)%, 16%, 2.8 x 10(7)/L, 49, (1.9 +/- 1.1) x 10(8)/L] (P < 0.05); and there was a slight decrease as compared with the hepatitis B cirrhosis group [(29 +/- 10)%, 7%, 0.6 x 10(7)/L, 29, (1.5 +/- 1.2) x 10(8)/L] (all P > 0.05 except NKG2D expression level of NK cells P < 0.05). The activity of NK cells showed a obvious positive correlation with the number of NK cell and the positive rate of NKG2D in NK cells, the number of NKG2D(+)NK cells and NKG2D expression level of NK cells (r = 0.657, 0.770, 0.927, 0.734, all P < 0.01). CONCLUSION: The cytotoxicity and the NKG2D expression of NK cells decreased significantly from peripheral blood in patients with primary hepatic carcinoma. The activity of NK cells was closely related to the NKG2D expression level of NK cells. Enhancing the NKG2D expression level of NK cell may provide a new idea for adoptive immunotherapy of primary hepatic carcinoma.

The association of serotonin transporter genetic polymorphisms and irritable bowel syndrome and its influence on tegaserod treatment in Chinese patients.

The aims of this study were to investigate the relationship of genetic polymorphisms of the serotonin reuptake transporter and the clinical subtypes of irritable bowel syndrome and its influence on the efficacy of tegaserod in Chinese irritable bowel syndrome patients with constipation. Genetic polymorphisms were analyzed in 87 patients and 96 controls, then 41 irritable bowel syndrome patients with constipation received tegaserod for 4 weeks. The primary efficacy variable was the responder rate measured by Subject's Global Assessment of Relief. Secondary efficacy assessed the changes of individual symptoms weekly. There was no significant difference in genotype frequencies between the patients as a whole and the control group. The frequency of the L/L genotype in the serotonin transporter gene-linked polymorphic region was significantly higher in patients with constipation than in controls (25.0% vs. 7.3%). Responder rates to tegaserod were significantly higher in the S/S (85.0%) and L/S (70.0%) than in the L/L genotype (36.4%). All secondary variables also significantly improved in the S/S and L/S groups compared to the L/L group. This study suggests the hypothesis that individuals with the L/L genotype are vulnerable to development of irritable bowel syndrome with constipation, and patients with the L/L genotype respond poorly to treatment with a routine dose of tegaserod.