Background Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenoty...Background Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenotypes in the Xinjiang Kazakh population.Methods We sequenced all exons and the promoter regions of the prostasin gene in 94 hypertensive individuals, and the genotype identification was performed by the TaqMan polymerase chain reaction method. Case-control studies were conducted in 938 Kazakh subjects.Results E342K and 2827G＞A, which are novel variants, were successfully genotyped in the general Xinjiang Kazakh population with a sample size of 938 individuals （406 men and 532 women）. Only one hypertensive patient was identified with the E342K mutation. No significant association was observed between 2827G＞A and hypertension. However,quantitative traits of hypertensive intermediate phenotypes were significantly associated with the A allele; P=-0.041 and 0.034 for body mass index （BMI） in the additive and recessive models, P=0.042 and 0.018 for OGTT-2h glucose in the additive and recessive models, P=0.031 for IRT-3h insulin in the recessive model, and P=0.038 for serum potassium in the dominant model.Conclusions This study does not provide evidence of a major role of prostasin variation in blood pressure modulation.However, association of prostasin polymorphisms with hypertension and metabolic effects can be observed in our population. Further investigation is warranted to clarify the relevance of prostasin polymorphisms to blood pressure regulation.展开更多
Background Preeclampsia,characterized by hypertension and proteinuria,is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling.Trophoblast and tumor cel...Background Preeclampsia,characterized by hypertension and proteinuria,is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling.Trophoblast and tumor cells have similar invasion mechanism.Prostasin is closely related to tumor development,invasion and metastasis and influences blood pressure through activating epithelial sodium channel.The effect of prostasin on the pathogenesis of preeclampsia remains unclear.This study investigated the association of prostasin gene at rs12597511 with severe preeclampsia.Methods A single nucleotide polymorphism,rs12597511,was tested with polymerase chain reaction and restrictionfragment length polymorphism analyses in 179 severe preeclampsia patients and 222 normal pregnant women.Results The frequencies of TC ＋ CC genotypes were significantly higher in severe preeclampsia group compared with in control group （the adjusted odds ratio was 2.030,95% confidence interval 1.195-3.449,P=0.009）.The C allele of rs12597511 was present significantly more often among women with severe preeclampsia （P=0.001）.Genotyping analysis showed that the C allele of rs12597511 could confer a risk for severe preeclampsia.Conclusion The higher frequency of C allele of prostasin gene at rs12597511 is associated with severe preeclampsia.展开更多
文摘Background Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenotypes in the Xinjiang Kazakh population.Methods We sequenced all exons and the promoter regions of the prostasin gene in 94 hypertensive individuals, and the genotype identification was performed by the TaqMan polymerase chain reaction method. Case-control studies were conducted in 938 Kazakh subjects.Results E342K and 2827G＞A, which are novel variants, were successfully genotyped in the general Xinjiang Kazakh population with a sample size of 938 individuals （406 men and 532 women）. Only one hypertensive patient was identified with the E342K mutation. No significant association was observed between 2827G＞A and hypertension. However,quantitative traits of hypertensive intermediate phenotypes were significantly associated with the A allele; P=-0.041 and 0.034 for body mass index （BMI） in the additive and recessive models, P=0.042 and 0.018 for OGTT-2h glucose in the additive and recessive models, P=0.031 for IRT-3h insulin in the recessive model, and P=0.038 for serum potassium in the dominant model.Conclusions This study does not provide evidence of a major role of prostasin variation in blood pressure modulation.However, association of prostasin polymorphisms with hypertension and metabolic effects can be observed in our population. Further investigation is warranted to clarify the relevance of prostasin polymorphisms to blood pressure regulation.
基金This work was support by the grants from the National Science Foundation of China （No.81300512）,Doctoral Fund of Ministry of Education of China （No.20110181110010）,Sichuan Provincial Science ＆ Technology Support Project （No.2013SZ0074） and the Office of Science ＆ Technology of Chengdu （No.12PPYB097SF-002）.
文摘Background Preeclampsia,characterized by hypertension and proteinuria,is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling.Trophoblast and tumor cells have similar invasion mechanism.Prostasin is closely related to tumor development,invasion and metastasis and influences blood pressure through activating epithelial sodium channel.The effect of prostasin on the pathogenesis of preeclampsia remains unclear.This study investigated the association of prostasin gene at rs12597511 with severe preeclampsia.Methods A single nucleotide polymorphism,rs12597511,was tested with polymerase chain reaction and restrictionfragment length polymorphism analyses in 179 severe preeclampsia patients and 222 normal pregnant women.Results The frequencies of TC ＋ CC genotypes were significantly higher in severe preeclampsia group compared with in control group （the adjusted odds ratio was 2.030,95% confidence interval 1.195-3.449,P=0.009）.The C allele of rs12597511 was present significantly more often among women with severe preeclampsia （P=0.001）.Genotyping analysis showed that the C allele of rs12597511 could confer a risk for severe preeclampsia.Conclusion The higher frequency of C allele of prostasin gene at rs12597511 is associated with severe preeclampsia.
