Association of CD44 polymorphisms and susceptibility to HBV-related hepatocellular carcinoma in the Chinese population.

BACKGROUND: This study aimed to determine whether CD44 polymorphisms were correlated with hepatocellular carcinoma (HCC) and to reveal a new potential target for early prediction, prevention, and diagnosis of HCC. METHOD: This study involved 96 cases with chronic hepatitis B (CHB), 96 cases with hepatitis B virus-related liver cirrhosis (LC), 204 cases with HCC related to the hepatitis B virus, and 210 healthy controls. The genotype of rs8193 was determined using the restriction fragment length polymorphism method, while the genotypes of rs10836347 and rs13347 were determined by direct sequencing. RESULTS: The results showed that patients with the CD44 rs13347 TT and T allele polymorphisms exhibited higher risks of LC than those carrying the CC genotype and C allele. The CD44 rs13347 CT and TT genotypes and T allele were significantly associated with an increased risk of HCC after adjusting for gender, age, smoking, and alcohol consumption (for CT: odds ratio [OR] = 1.626, 95% confidence interval [CI] = 1.057-2.500, P = .027; for TT: OR = 1.965, 95% CI = 1.043-3.702, P = .037; and for T: OR = 1.461, 95% CI = 1.091-1.956, P = .011). In the rs13347 site of the female population, the CT and TT genotypes were related to the high occurrence of HCC. In the population aged ≥50 years, carriers of the CD44 rs13347 CT and TT alleles were more susceptible to HCC compared with CC carriers. Those who consumed alcohol who carried the rs10836347 CT genotype exhibited a risk factor for HCC. CONCLUSION: For the CD44 rs13347 site, mutations in the T allele might be a risk factor for HCC.

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Background: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.

[Osteogenic development in vivo and osteogenic differentiation in vitro of mouse maxillary primordium mesenchymal cells: a comparative study].

PURPOSE: To compare the differences between the osteogenic development in vivo and osteogenic differentiation in vitro of mouse maxillary primordium mesenchymal cells (MPMCs). METHODS: E10.5 and E17.5 mouse MPMCs were cultured in vitro to observe cell morphology. E10.5 primary MPMCs, after culturing in vitro for 3 days, were cultured in osteogenic differentiation in vitro for another 7 days. Then immunofluorescence and qPCR were used to compare the difference of osteogenic differentiation with E17.5 primary MPMCs cultured in vitro for 3 days. SPSS 20.0 software package was used for independent samples t test. RESULTS: E10.5 and E17.5 mouse MPMCs adhered to dish when cultured in vitro, and the cells exhibited polygonal or oval shape. The proliferation of E17.5 mouse MPMCs was faster than that of E10.5 MPMCs. After 7 days of osteogenic induction, the expression of Runx2 and OCN proteins, two osteogenic markers, in E10.5 mouse MPMCs was similar to E17.5 cells without osteogenic induction. The mRNA expression of Runx2, OCN and OPN also showed similar expression patterns, and there was no significant difference in the calcium nodules formation between E10.5 MPMCs and E17.5 MPMCs. CONCLUSIONS: In vitro osteogenic induction of E10.5 mouse MPMCs can mimic osteogenic development process of MPMCs in vivo, and provide a suitable cell model for the study of jaw development.