BACKGROUND Diastolic dysfunction is common in sickle cell disease (SCD), and is associated with an increased risk of mortality. However, the molecular pathogenesis underlying this development is poorly understood. The aim of this study was to identify a gene expression profile that is associated with diastolic function in SCD, potentially elucidating molecular mechanisms behind diastolic dysfun...

BACKGROUND Genetic association studies demonstrated a role for cytokine proteins and cytokine or cytokine receptor gene polymorphisms in smallpox vaccine-induced adaptive immunity. METHODS We examined the association of genetic polymorphisms with cellular (interferon [IFN] γ enzyme-linked immunospot assay [ELISPOT]) immune response to smallpox vaccine in 1076 immunized individuals. RESULTS ...

Background: Pegylated interferon plus ribavirin is the standard therapy for treatment of Chronic hepatitis C (CHC) patients, this therapy is only effective in 50–60% of infected individuals. Pretreatment predictors associated with sustained virological response (SVR) to interferon treatment have not yet been fully investigated. Several factors have been shown to influence response to antiviral ...

BACKGROUND The genetic basis of the autoimmune disease type 1 diabetes (T1D) has now been largely determined, so now we can compare these findings with emerging genetic knowledge of disorders and phenotypes that have been negatively or positively associated with T1D historically. Here, we assessed the role in T1D of variants previously reported to be associated with atopic diseases and epitheli...

Inflammasome activation is needed for the production of IL-1 family cytokines IL-1β and IL-18. Both these have been suggested to influence inflammatory responses in AD, as well genetic association AD with polymorphisms IL18R1 IL18RAP genes has proposed. In this study, we report increased expression inflammasome sensor NACHT, LRR, PYD domains-containing protein 1 (NLRP1) adapter CARD Domain Cont...

Mekhanizm patogeneticheskogo utyazheleniya v sisteme SARS-CoV-2–essencial'noj gipertenzii (EAG) nosit bolee slozhnyj harakter, chem vzaimodejstvie na urovne angiotenzinprevrashchayushchego fermenta 2 (ACE2). Cel'yu issledovaniya bylo proanalizirovat' dinamiku soderzhaniya predstavitelej semejstva IL1 (IL1β, IL1α, IL1ra, IL18, IL18BP, IL37) krovi bol'nyh EAG cherez 10, 30 i 180 dnej posle COVID-...

Over 22,000 cases of ovarian cancer were diagnosed in 2007 in the United States, but only a fraction of them can be attributed to mutations in highly penetrant genes such as BRCA1. To determine whether low-penetrance genetic variants contribute to ovarian cancer risk, we genotyped 1,536 single nucleotide polymorphisms (SNP) in several candidate gene pathways in 848 epithelial ovarian cancer cas...