The association of MOV10 polymorphism and expression levels with preeclampsia in the Chinese Han population.

BACKGROUND: To assess the relationship between MOV10 rs2932538 polymorphism and susceptibility to preeclampsia (PE) in the Chinese Han population and to investigate whether the placental expression of MOV10 have association with PE. METHODS: We enrolled 1021 pregnant women with PE and 1594 normotensive pregnant women to analyze genotyping of MOV10 rs2932538. Clinical data and related test results of all subjects were collected and analyzed. For volunteers providing placentas, real-time PCR, Western blot, and immunohistochemistry were applied to assess the expression level of MOV10. RESULTS: There was significant statistical difference between preeclamptic patients and healthy subjects in genotype distributions and alleles. The frequencies of genotypes TT+CT were significantly associated with the increased risk of preeclampsia. Besides, T alleles were found to be related to a higher risk of PE. Significant statistical difference was also observed on distributions of genotype in PE without/with severe features group compared or early onset/late onset versus controls. The placental expression of MOV10 was lower in preeclamptic women, however, no relationship was found between MOV10 expression level and MOV10 rs2932538 genotypes. CONCLUSION: This study suggests that MOV10 rs2932538 polymorphism may be associated with PE susceptibility in the Chinese Han population. The placental expression of MOV10 decrease in PE but have no relationship with rs2932538 polymorphism.

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI including PNPLA1 which can cause ARCI type 10. The objectives of this study are to describe clinical features of three ARCI patients from two Chinese unrelated families and to identify the underlying causative mutations. METHODS: Genomic DNA was extracted from peripheral venous blood obtained from the two Chinese ARCI families in Shandong province. Subsequently, targeted regions sequencing (TRS) followed by Sanger sequencing was conducted to identify and validate the likely pathogenic mutations of the ARCI families. RESULTS: Genetic analyses revealed four novel PNPLA1 variants that are predicted to be probably to lead to ARCI in three patients of two families. Patient 1 in one family was in compound heterozygous status for c.604delC/p.Arg202Glyfs*27 and c.820dupC/p.Arg274Profs*15, whereas c.738_742delinsCCCACAGATCCTGC/ p.Gly247_Tyr248delinsProGlnIleLeuHis, and c.816dupC/p.Arg274Profs*15 were found in patient 2 and 3 of the other family. In addition, these variants cosegregate in the two pedigrees and are all within highly conserved regions of the PNPLA1 protein, which indicate that the four mutations are likely pathogenic. CONCLUSION: Our findings not only broaden the mutational spectrum of PNPLA1, but also contribute to establishing genotype-phenotype correlations for different forms of ARCI.

[Relationship of S100B protein expression and the pathogenesis of early-onset and late-onset preeclampsia].

OBJECTIVE: To investigate the relationship of S100B protein expression and the pathogenesis of early-onset and late-onset preeclampsia. METHODS: Sixty patients with preeclampsia who received caesarean section at Qingdao Municipal Hospital from October 2010 to September 2011 were enrolled in this study. Thirty cases were early-onset preeclampsia (referred as early-onset preeclampsia group, < 34 weeks), and the other 30 cases were late-onset preeclampsia (referred as late-onset preeclampsia group, ≥ 34 weeks). Thirty women who received caesarean section because of pelvic structural deformities, breech presentation, macrosomia and social factors were included as the control group. The expression of S100B mRNA in the placenta was detected by reverse transcription (RT)-PCR. The expression of S100B protein in the placenta was detected by immunohistochemistry. RESULTS: (1) S100B mRNA was expressed in the trophoblasts of preeclampsia and control groups. The expression of S100B mRNA in early-onset preeclampsia group (0.73 ± 0.11) was significantly higher than the control group (0.58 ± 0.08) and late-onset preeclampsia group (0.64 ± 0.10, P < 0.05). There was no significant difference between late-onset preeclampsia group and the control group (P > 0.05). (2) S100B protein was expressed in the plasma membrane and cytoplasm of the trophoblasts, correlated positively with the brownish yellow and brown particles inside the cells. It was expressed in all the three groups. Immunohistochemistry revealed that the expression of S100B protein in the placenta of early-onset preeclampsia group was 100% (30/30), significantly higher than those of late-onset preeclampsia group and the control group, in which the positive rate were 70% (21/30) and 63% (19/30) respectively (P < 0.05). There was no difference between late-onset preeclampsia group and the control group (P > 0.05). CONCLUSION: Early-onset and late-onset preeclampsia may have different etiology and pathogenesis. S100B may be a factor in the pathogenesis of early-onset preeclampsia.