P2X7 receptor is an ATP gated ion channel well known for its pro-inflammatory, anti-infectious activity. The human gene for P2X7 receptor is highly polymorphic accounting for more than 1500 SNPs, among which ten loss and three gain of function variants. P2X7 SNPs have been the focus of numerous studies trying to exploit them as biomarkers in pathologies as different as infectious diseases, oncological conditions, mental illnesses and many others [1]. Nevertheless, the relation between P2X7 gene–variants and fertility was never investigated. Here we analysed the expression of gain (489C > T) and loss (1513A > C) of function P2X7 SNP in 103 patients subdivided into three cohorts: 50 fertile women, 30 idiopathic primary (unsuccessful pregnancies) and 23 secondary (previous pregnancy) infertile women. P2X7 genotyping was also correlated with cytokine levels in uterine flushing and positivity for HHV-6A infection, a condition previously associated with primary infertility [2].
Role of P2X7 polymorphisms in idiopathic infertility and HHV-6A infection
Anna Pegoraro
;Daria Bortolotti;Mariangela Sicolo;Elisabetta Caselli;Dario Di Luca;Francesco Di Virgilio;Roberto Marci;Roberta Rizzo;Elena Adinolfi
2017
Abstract
P2X7 receptor is an ATP gated ion channel well known for its pro-inflammatory, anti-infectious activity. The human gene for P2X7 receptor is highly polymorphic accounting for more than 1500 SNPs, among which ten loss and three gain of function variants. P2X7 SNPs have been the focus of numerous studies trying to exploit them as biomarkers in pathologies as different as infectious diseases, oncological conditions, mental illnesses and many others [1]. Nevertheless, the relation between P2X7 gene–variants and fertility was never investigated. Here we analysed the expression of gain (489C > T) and loss (1513A > C) of function P2X7 SNP in 103 patients subdivided into three cohorts: 50 fertile women, 30 idiopathic primary (unsuccessful pregnancies) and 23 secondary (previous pregnancy) infertile women. P2X7 genotyping was also correlated with cytokine levels in uterine flushing and positivity for HHV-6A infection, a condition previously associated with primary infertility [2].I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
