Background: Meningioma-associated protein (MAC30), first described to be overexpressed in meningiomas, exhibits altered expression in certain human tumors. The aim of our study was to investigate the expression of MAC30 mRNA and its correlation with clinicopathological variables in human colorectal cancer (CRC). Methods: MAC30 mRNA expression was first examined in 55 CRCs, along with the samples from the matched distant normal and adjacent noncancerous tissue by RT-PCR, further verified in 18 CRCs by quantitative RT-PCR. MAC30 protein expression was detected by Western blot in 10 CRCs, and DNA sequencing was performed in 1 case of the paired CRC and the matched noncancerous specimen. MAC30 mRNA expression in two colon cancer cell lines, HCT-116^p53–/– and HCT-116^p53+/+, was detected by quantitative RT-PCR. Results: The mRNA expression of MAC30 was increased in CRC when compared with distant normal (p < 0.01) and adjacent noncancerous mucosa (p < 0.01). The mean value of MAC30 mRNA expression in the tumor located in the colon was higher than in the rectum (0.677 ± 0.419 vs. 0.412 ± 0.162, p = 0.005). As the tumor penetrated the wall of the colon/rectum, MAC30 mRNA expression notably increased in tumors with T3+T4 stage compared to tumors with T1+T2 stage (0.571 ± 0.364 vs. 0.404 ± 0.115, p = 0.014). MAC30 protein expression in CRCs was also remarkably elevated compared to the adjacent noncancerous mucosa. There was no mutation in the coding region of the MAC30 gene either in CRC or in the noncancerous mucosa. mRNA expression of p53 was notably decreased in HCT-116^p53–/– compared to HCT-116^p53+/+, while MAC30 did not vary greatly. Conclusion: The overexpression of MAC30 might be involved in the development and aggressiveness of CRCs, especially in the colon.

Purpose: This study was aimed to study the hypothesis that forkhead box O1 (FOXO1) gene rs17446614 and rs17592236 single nucleotide polymorphisms (SNPs) influenced the development of diabetic nephropathy (DN). Methods: This study included 138 DN patients and 149 healthy controls. Controls were matched with the patients in age and gender. The method of polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to detect FOXO1 gene polymorphisms. Haploview software was conducted to analyze the linkage disequilibrium and haplotypes of FOXO1 gene polymorphisms. Relative risk of DN was expressed by odds ratios (ORs) and 95% confidence intervals (95% CIs), then the results were adjusted by clinical characteristics of the study subjects using logistic regression analysis. Subgroup analysis was performed according to gender. Results: AA genotype of rs17446614 SNPs was significantly associated with the risk of DN (P ¼ .037, adjusted OR ¼ 5.412, 95% CI ¼ 1.103-26.559), especially in female (OR ¼ 8.700, 95% CI ¼ 1.008-75.062, P ¼ .021). FOXO1 rs17446614 A allele positively associated with the development of DN (P ¼ .027, adjusted OR ¼ 1.680, 95% CI ¼ 1.060-2.662), particularly in women (OR ¼ 2.003, 95% CI ¼ 1.070-3.749, P ¼ .028). A-C haplotype formed by FOXO1 gene rs17446614 and rs17592236 SNPs was significantly associated with the increased risk of DN (P ¼ .011, OR ¼ 1.850, 95% CI ¼ 1.146-2.986). Conclusion: FOXO1 gene rs17446614 SNP, and the A-C haplotype of rs17446614 and rs17592236 polymorphisms were risk factors for the development of DN.

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