title: Q705K variant inNLRP3gene confers protection against myocardial infarction in female individuals.
abstract: Inflammation is a multifaceted process that underlies the pathophysiology of acute myocardial infarction (MI). Variations in the inflammasome-relatedNLRP3gene have been associated with risk for a number of different inflammatory diseases. Therefore, Q705K polymorphism inNLRP3gene likely confers susceptibility to risk for MI. A First-ever myocardial Infarction study in Ac-county (FIA) cohort comprising 555 MI patients and 1,016 controls was used to genotype rs35829419 in theNLRP3gene by TaqMan single-nucleotide polymorphism assay. C-reactive protein (CRP) was measured in the study participants by ELISA. The results showed no significant association between the variant rs35829419 and MI. However, the minor A allele of the rs35829419 polymorphism conferred a protective effect against the risk of developing MI in females. The minor A allele of rs35829419 polymorphism was also associated with increased CRP levels in males. Results of the study suggested a gender-specific deregulation ofNLRP3gene mediated by rs35829419 polymorphism that confers protection against MI in females but has no effect on MI susceptibility in males. However, the rs35829419 polymorphism was associated with increased CRP levels among the male subjects, thereby demonstrating the possible effect of the Q705K polymorphism in elevating the basal active state of innate immune response.
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, SE-701 82 Örebro, Sweden.
authors.forename: Geena Paramel
authors.initials: GP
authors.lastname: Varghese
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, SE-701 82 Örebro, Sweden.
authors.forename: Karin
authors.initials: K
authors.lastname: Fransén
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, SE-701 82 Örebro, Sweden.
authors.forename: Anita
authors.initials: A
authors.lastname: Hurtig-Wennlöf
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, SE-701 82 Örebro, Sweden.
authors.forename: Torbjörn
authors.initials: T
authors.lastname: Bengtsson
authors.affiliation: Department of Internal Medicine, Skellefteå Hospital and Umeå University Hospital, SE-931 86 Umeå, Sweden.
authors.forename: Jan-Håkan
authors.initials: JH
authors.lastname: Jansson
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, SE-701 82 Örebro, Sweden.
authors.forename: Allan
authors.initials: A
authors.lastname: Sirsjö
keywords: NLRP3; Q705K polymorphism; cytokine; inflammasome; myocardial infarction; rs35829419