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The IL1RL1, which encodes at least three isoforms by alternative splicing, has been identified to be involved in the initiation and perpetuation of inflammation. In spite of being a main contributor of maternal and perinatal mortality, the mechanism responsible for the pathophysiology of preeclampsia has not yet been well addressed. To investigate the relationship between IL1RL1 polymorphisms and preeclampsia risk, we identified the correlation between three tag SNPs (rs13017455, rs1420103 and rs17027006) in IL1RL1 with preeclampsia risk in a case-control study. A total of 214 cases and 208 controls were recruited to participate in this study. Genotypes of the three SNPs were determined with the use of polymerase chain reaction-restriction fragment length polymorphism assay. Significantly reduced preeclampsia risk was found to be associated with the CT genotype of rs13017455 ( p = 0. 032, OR = 0. 66, 95% CI = 0.45-0.97) in overdominant model. Differences were particularly significant in the severe preeclampsia subgroup ( p = 0.045, OR = 0.66, 95% CI = 0.44-0.99) and the early-onset severe preeclampsia subgroup ( p = 0.0097, OR = 0.47, 95% CI = 0.26-0.84). Significantly increased mild preeclampsia risk was observed associated with GG genotype of rs1420103 polymorphisms ( p = 0.029, OR = 2.18, 95% CI = 1.09-4.34), while reducing late-onset severe preeclampsia susceptibility was associated with TT genotype of rs1420103 ( p = 0.02, OR = 0.49, 95% CI = 0.26-0.92). [ABSTRACT FROM AUTHOR]

Recent studies have suggested that RTN4 is a multifunctional gene, including inhibition of axonal regeneration, vascular remodeling, apoptosis, and tumor suppression. The TATC and CAA insertion/deletion polymorphisms of RTN4 3′-UTR have been linked to schizophrenia, depression, and dilated cardiomyopathy. To test whether these two polymorphisms are associated with cervical squamous cell carcinoma (CSCC), in this research, by using polymerase chain reaction-polyacrylamide gel electrophoresis, we determined the genotypes of the TATC and CAA polymorphisms in 336 CSCC patients and 450 unrelated control subjects. Allele frequencies of TATC and CAA polymorphisms were not significantly different between CSCC patients and control subjects (odds ratio [OR]=1.22, 95% confidence interval [CI]=0.98-1.50 for TATC; OR=0.95, 95% CI=0.76-1.18 for CAA). Decreased CSCC risk was associated with TATC polymorphism in a recessive model (OR=0.49, 95% CI=0.30-0.77), while no significant association was observed between CAA polymorphism and CSCC in different genetic models. Results of stratified analysis revealed that both TATC and CAA polymorphisms were associated with high clinical stage, and CAA polymorphism was also associated with positive parametrial invasion (OR=0.69, 95% CI=0.48-0.98). The present study provides evidence that TATC and CAA insertion/deletion polymorphisms are associated with CSCC, indicating that genetic variation in RTN4 3′-UTR contributes to the susceptibility to CSCC. It is necessary to confirm these findings in ethnically different populations and with a larger sample. [ABSTRACT FROM AUTHOR]

Signal transducer and activator of transcription (STAT) plays an important role in regulating cell proliferation, differentiation, and apoptosis. Previous studies revealed that abnormal expression/activation of STAT family members were present in a large group of human malignant tumors. In the present study, using polymerase chain reaction (PCR)-restriction fragment length polymorphism, DNA sequencing, and Taqman probe real-time PCR techniques, we analyzed two single-nucleotide polymorphisms (SNPs) in the STAT5B and STAT3 genes (rs6503691 and rs4769793, respectively) in 275 Chinese cervical cancer patients and 340 controls. Our results indicated that the genotype and allele frequencies of SNP rs4769793 were significantly different between the cervical cancer patients and normal subjects ( p < 0.05, odds ratio = 1.35, 95% confidence interval = 1. 07-1.70). In addition, stratified analyses revealed that the polymorphism of rs4769793 was also associated with poor tumor differentiation and positive parametrial invasion ( p < 0. 05). In contrast, SNP rs6503691 did not show any difference between patients and controls or association with patient clinical characteristics. Collectively, these findings suggested that STAT3 gene polymorphism (rs4769793) was associated with the susceptibility as well as poor differentiation and parametrial invasion of cervical cancer in Chinese women. [ABSTRACT FROM AUTHOR]

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness. The pathogenesis of DCM has been extensively studied for many years, but it remains elusive. Adiponectin is an adipocyte-derived cytokine with anti-inflammatory, antidiabetic, and antiatherogenic properties. To assess the role of adiponectin in DCM, we examined two single-nucleotide polymorphisms in the adiponectin gene, rs1501299 and rs2241766. A total of 203 DCM patients and 258 control subjects were recruited in this study and all single-nucleotide polymorphisms were genotyped by polymerase chain reaction–restriction fragment length polymorphism. No statistically significant differences in genotype and allele frequencies were observed between DCM and controls with any of the adiponectin genetic variants. These data may provide evidence that adiponectin polymorphisms do not play a role in the susceptibility of DCM in the Han Chinese population. [ABSTRACT FROM AUTHOR]

Abstract: Background: Common single nucleotide polymorphisms (SNPs) in pre-microRNAs may change their property through altering microRNAs (miRNAs) expression and/or maturation, resulting diverse functional consequences. We conducted a pilot study to test whether SNPs in pre-microRNAs were associated with dilated cardiomyopathy (DCM). Methods: Genotypes of 3 SNPs in pre-miRNAs (has-mir-196a2 rs11614913 C/T, hsa-mir-499 rs3746444 A/G, hsa-mir-146a rs2910164 C/G) in 221 DCM patients and 321 control subjects were determined with the use of PCR-restriction fragment length polymorphism (RFLP) assay. Results: Significantly increased DCM risks were found to be associated with variant allele of has-mir-196a2 rs11614913 C/T (T allele) and hsa-mir-499 rs3746444 A/G (G allele) (P <0.0001, OR=1.730, 95% CI=1.345–2.227, and P <0.0001, OR=1.794, 95% CI=1.350–2.385, respectively). We found that increased DCM risk was statistically significantly associated with these 2 SNPs in a dominant model (P =0.0001 and P <0.0001 for rs11614913 and rs3746444, respectively). No association between DCM risk and hsa-mir-146a rs2910164 C/G was observed (P =0.451, OR=1.102, 95% CI=0.856–1.418). Conclusions: Both the has-mir-196a2 rs11614913 C/T and hsa - mir - 499 rs3746444 A/G, but not hsa - mir - 146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. [Copyright &y& Elsevier]

Abstract: Background: The Nogo isoforms A, B and C are members of the reticulon family of proteins. Nogo-B is found in most tissues, especially highly expressed in endothelial and smooth muscle cells of the vessel wall, and Nogo-B is a regulator of cell migration in vitro and vascular remodeling in vivo. The TATC and CAA 3′UTR insertion/deletion polymorphisms of the RTN4, the gene encoding Nogo isoforms A, B and C, have been linked to schizophrenia and depression, but data were inconsistent. However, it is unclear whether these polymorphisms are associated with dilated cardiomyopathy (DCM). Methods: A total of 159 DCM patients and 215 control subjects were recruited in this study. The RTN4 TATC and CAA insertion/deletion genotypes were determined using PCR-polyacrylamide gel electrophoresis. Results: Frequencies of (TATC)2 allele and (TATC)2/(TATC)2 genotype were significantly different from that in healthy controls (P = 0.045, OR = 1.356, 95% CI = 1.006–1.827 and P = 0.021, OR = 2.094, 95% CI = 1.113–3.940, respectively). No significant differences in CAA insertion/deletion genotype and allele frequencies were observed between the DCM and controls. Conclusion: These data provide evidence that RTN4 allele (TATC)2 and (TATC)2/(TATC)2 genotype are associated with DCM. [Copyright &y& Elsevier]