11 results on '"Kilpinen, Sanna"'
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2. Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
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Kaustio, Meri, Haapaniemi, Emma, Göös, Helka, Hautala, Timo, Park, Giljun, Syrjänen, Jaana, Einarsdottir, Elisabet, Sahu, Biswajyoti, Kilpinen, Sanna, Rounioja, Samuli, Fogarty, Christopher L., Glumoff, Virpi, Kulmala, Petri, Katayama, Shintaro, Tamene, Fitsum, Trotta, Luca, Morgunova, Ekaterina, Krjutškov, Kaarel, Nurmi, Katariina, Eklund, Kari, Lagerstedt, Anssi, Helminen, Merja, Martelius, Timi, Mustjoki, Satu, Taipale, Jussi, Saarela, Janna, Kere, Juha, Varjosalo, Markku, and Seppänen, Mikko
- Published
- 2017
- Full Text
- View/download PDF
3. Susceptibility to Primary Epstein-Barr Virus Infection Is Associated with Interleukin-10 Gene Promoter Polymorphism
- Author
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Helminen, Merja E., Kilpinen, Sanna, Virta, Miia, and Hurme, Mikko
- Published
- 2001
4. The promoter polymorphism of the IL-6 gene is associated with levels of antibodies to 60-kDa heat-shock proteins
- Author
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Veres, Amarilla, Prohászka, Zoltán, Kilpinen, Sanna, Singh, Mahavir, Füst, George, and Hurme, Mikko
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- 2002
- Full Text
- View/download PDF
5. Dominant NFKB1 Mutations Cause Antibody Deficiency and Autoinflammatory Episodes
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Haapaniemi, Emma M, primary, Kaustio, Meri, additional, Nurkkala, Helka, additional, Helminen, Merja, additional, Mustjoki, Satu, additional, Elisabet, Einarsdottir, additional, Biswajyoti, Sahu, additional, Kilpinen, Sanna, additional, Syrjänen, Jaana, additional, Rounioja, Samuli, additional, Fogarty, Christopher, additional, Glumoff, Virpi, additional, Kulmala, Petri, additional, Katayama, Shintaro, additional, Tamene, Fitsum, additional, Martelius, Timi, additional, Trotta, Luca, additional, Morungova, Ekaterina, additional, Taipale, Jussi, additional, Saarela, Janna, additional, Kere, Juha, additional, Varjosalo, Markku, additional, and Seppänen, Mikko, additional
- Published
- 2015
- Full Text
- View/download PDF
6. Inflammatory Cytokines and Their Promoter Polymorphisms
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Kilpinen, Sanna, Lääketieteen laitos - Medical School, Lääketieteellinen tiedekunta - Faculty of Medicine, and University of Tampere
- Subjects
geeni ,interleukiini-1 ,interleukin-6 ,interleukiini-6 ,interleukin-10 ,SNP ,gene ,Mikrobiologia ja Immunologia - Mikrobiology and Immunology ,interleukiini-10 ,interleukin-1 - Abstract
Polymorfia, DNA:ssa esiintyvä perinnöllinen rakennevaihtelu, on yleinen ilmiö ihmisen geeneissä.Yksinkertaisimmillaan polymorfia merkitsee yhden emäksen vaihtumista toiseksi, ja tällöin populaatiossa tavataan vain kahta vaihtoehtoista muotoa, ts. kahta alleelia. Sytokiinit ovat solujen tuottamia liukoisia välittäjäaineita, jotka aktivoivat kohdesoluja spesifisten reseptoreidensa välityksellä. IL-1 ja IL-6 ovat ns. proinflammatorisia sytokiineja, joilla on merkitystä erityisesti tulehdusreaktion alkuvaiheessa. IL-10 taas puolestaan kuuluu ns. anti-inflammatorisiin sytokiineihin,jotka vaimentavat tulehdusreaktion voimakkuutta. Myös sytokiinigeeneissä on havaittu polymorfiaa ja geenin säätelyalueella sijaitsevan vaihtelun on arveltu voivan vaikuttaa geenin luentaan ja siten geenituotteen tuotantoon. Tutkimuksessa haluttiin selvittää IL-1, IL-6 ja IL-10 geenien säätelyalueella sijaitsevien polymorfisten kohtien esiintymistä terveessä suomalaisessa väestössä. Näiden kohtien mahdollista vaikutusta ko. proteiinin tuotantoon analysoitiin joko sytokiinin plasmatasoja tai in vitro-tasoja mittaamalla. Rakennevaihtelukohtia on myös käytetty erilaisten tautien ennusteen ja/tai sairastumisriskin arvioinnissa. Tässä työssä tautimallina käytettiin Epstein-Barr-virusinfektiota. Koska em. sytokiineilla on tärkeä rooli vasta-ainevälitteisen immuniteetin kehittymiselle, haluttiin lisäksi analysoida geenien periytyvän vaihtelun mahdollista merkitystä vasta-ainevälitteiselle immuniteetille. Tutkimuksessa käytetyt seerumi- ja DNA-näytteet ovat peräisin terveiltä aikuisilta. Vastasyntyneiden vastaavat näytteet on saatu synnytyksen yhteydessä saatavasta napaverestä. Lisäksi tutkittiin seerumi- ja DNA-näytteet 116 lapselta, jotka saapuivat pediatriseen konsultaatioon. Polymorfiakohtien tutkimiseen käytettiin PCR-tekniikkaa ja geelielektroforeesia. Sytokiinitasot, EBV-IgG-luokan vasta-aineet ja anti-hsp60 vasta-aineet määriteltiin ELISA-menetelmällä. Plasman immunoglobuliiniluokat analysoitiin nefelometrisesti. Polymorfiakohtien alleeli- tai haplotyyppifrekvenssit eivät poikenneet aiemmin eurooppalaisperäisissä populaatioissa kuvatuista frekvensseistä. Tiettyjen sytokiinigeenien emäsvaihto-polymorfian ja sytokiinituotannon välillä havaittiin yhteys, mikä voi tarkoittaa sitä, että ko. kohdat ovat tärkeitä tuotantotason säätelyssä. IL-10 geenin polymorfisilla kohdilla voi olla merkitystä EBV-infektioon sairastumisen kannalta. Sytokiinigeenien emäsvaihtopolymorfialla voi olla myös merkitystä vasta-ainevälitteisen immuniteetin säätelyssä. On kuitenkin huomattava, että poikkileikkaustutkimuksen antama informaatio on aina varsin rajallista ja altis sekoittaville tekijöille, ja siten seurantatutkimusten tulisi varmentaa havaitut löydökset. A polymorphism means a common, inherited variation in the DNA sequence and several types of polymorphisms exist in the genome. Single nucleotide polymorphisms (SNPs) are stable, biallelic, single base pair differences between the DNA sequences of individuals. SNPs are highly abundant and are estimated to occur at an average rate of 1 per 1,000 bases in the human genome. It has been estimated that 1 % of all SNPs alter an amino acid in a protein. Thus, most SNPs do not directly affect protein function. Some SNPs have effects on proteins indirectly. They may change the function of regulatory sequences that control gene expression, or they may alter the stability or the processing of the mRNA of the gene. Cytokines are small, soluble protein molecules that transmit information from one cell to another. Many cytokines are produced by more than one cell type and act on a variety of target cells at different stages of cellular proliferation and differentiation. They all bind to specific receptors expressed on the surface of the target cell. Since each cytokine has many overlapping functions and, furthermore, since each function is potentially mediated by more than one cytokine, it is not simple to classify these molecules. However, functionally inflammatory cytokines may be grouped into proinflammatory, such as IL-1 and IL-6, and anti-inflammatory, such as IL-10, cytokines. Genes of cytokines and cytokine receptors have also been proven to be polymorphic. In this thesis, we studied the allele, haplotype and genotype frequencies of certain inflammatory cytokine (IL-1, IL-6 and IL-10) promoter polymorphisms in healthy Finnish populations. In addition, we were interested in whether these various alleles or haplotypes associate with cytokine baseline levels and/or with cytokine responses in vitro. Whether the effect of distinct alleles in cytokine promoters could also be seen on inducible, systemic cytokine levels was also examined; normal labour-related stress served as an in vivo stimulus. Cytokine SNPs have been analysed to identify potential markers of susceptibility, severity and clinical outcome of human diseases. Here, we used human EBV-infection as a disease model. All cytokines studied appear to play major roles in host defense mechanisms, and one such activity is the ability to mount humoral responses. Thus, we investigated whether the distinct alleles may influence antibody responses in healthy subjects.
- Published
- 2003
7. Cat Scratch Disease Caused by Bartonella grahamii in an Immunocompromised Patient
- Author
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Oksi, Jarmo, primary, Rantala, Sari, additional, Kilpinen, Sanna, additional, Silvennoinen, Raija, additional, Vornanen, Martine, additional, Veikkolainen, Ville, additional, Eerola, Erkki, additional, and Pulliainen, Arto Tapio, additional
- Published
- 2013
- Full Text
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8. Indometasiinin, diklofenaakin ja ketoprofeenin vaikutukset kanin halotaanin MAC-arvoon
- Author
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KILPINEN, SANNA, Lääketieteen laitos - Medical School, Lääketieteellinen tiedekunta - Faculty of Medicine, and University of Tampere
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Lääketiede - Medicine - Abstract
Syventävä työ ei kirjastossa
- Published
- 1992
9. Cat Scratch Disease Caused by Bartonella grahamiiin an Immunocompromised Patient
- Author
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Oksi, Jarmo, Rantala, Sari, Kilpinen, Sanna, Silvennoinen, Raija, Vornanen, Martine, Veikkolainen, Ville, Eerola, Erkki, and Pulliainen, Arto Tapio
- Abstract
ABSTRACTBartonella grahamiicolonizes rodents worldwide and has been detected in questing Ixodes ricinusticks. Here, the first human B. grahamiiinfection confirmed by multilocus sequence typing is reported. The route of transmission and clinical picture of the patient are similar to those seen in patients with cat scratch disease, which is typically diagnosed as a Bartonella henselaeinfection.
- Published
- 2013
- Full Text
- View/download PDF
10. Valvular calcification and its relationship to atherosclerosis in chronic kidney disease.
- Author
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Leskinen Y, Paana T, Saha H, Groundstroem K, Lehtimäki T, Kilpinen S, Huhtala H, and Airaksinen J
- Subjects
- Adult, Aged, Aortic Valve pathology, Carotid Artery Diseases epidemiology, Chronic Disease, Comorbidity, Coronary Artery Disease epidemiology, Cross-Sectional Studies, Diabetic Angiopathies epidemiology, Diabetic Angiopathies pathology, Female, Humans, Kidney Diseases pathology, Male, Middle Aged, Mitral Valve pathology, Peripheral Vascular Diseases epidemiology, Prevalence, Risk Factors, Atherosclerosis epidemiology, Calcinosis epidemiology, Heart Valve Diseases epidemiology, Kidney Diseases epidemiology
- Abstract
Background and Aim of the Study: Cardiovascular calcification is a common complication in patients with chronic kidney disease (CKD). The study aim was to identify the characteristics and risk factors of valvular calcification, and its relationship to atherosclerosis, in CKD., Methods: In this cross-sectional study, a total of 135 patients with CKD (mean age 52 +/- 11 years) included 58 pre-dialysis patients, 36 dialysis patients, and 41 renal transplant recipients. A control group of 58 subjects was also examined. The characteristics of valvular calcification were assessed using transthoracic echocardiography., Results: The combined prevalences of mitral or aortic valve calcification were 31% in pre-dialysis patients, 50% in dialysis patients, 29% in renal transplant recipients, and 12% in controls (p = 0.001). The prevalences of mitral annular calcification were 17%, 31%, 27% and 2%, respectively (p = 0.001). In multivariate analysis, the risk factors for valvular calcification in CKD were age, duration of dialysis treatment and interleukin-6 level. Mitral annular calcification proved to be five-fold more common in diabetic patients than among non-diabetics. A close association between valvular calcification and patients with or without increased carotid intima-media thickness (44% versus 15%, p < 0.001), carotid plaque (77% versus 49%, p = 0.002), calcified carotid plaque (65% versus 26%, p = 0.001), coronary artery disease (40% versus 15%, p = 0.003) and peripheral arterial disease (46% versus 9%, p < 0.001) was found., Conclusion: Valvular calcification is common in CKD, and is closely associated with findings of intimal arterial disease. The presence of inflammation and the duration of dialysis treatment contribute to this complication. Diabetes is also a prominent risk factor for mitral annular calcification in CKD.
- Published
- 2009
11. The combination of the interleukin-1alpha (IL-1alpha-889) genotype and the interleukin-10 (IL-10 ATA) haplotype is associated with increased interleukin-10 (IL-10) plasma levels in healthy individuals.
- Author
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Kilpinen S, Huhtala H, and Hurme M
- Subjects
- Genotype, Humans, Interleukin 1 Receptor Antagonist Protein, Interleukin-1 blood, Interleukin-10 blood, Minisatellite Repeats genetics, Polymorphism, Genetic, Haplotypes genetics, Interleukin-1 genetics, Interleukin-10 genetics, Sialoglycoproteins genetics
- Abstract
Family studies have demonstrated striking differences between individuals in their ability to produce IL-10 following lipopolysaccharide (LPS) stimulation of whole blood cultures in vitro, suggesting that differences in IL-10 production involve a considerable hereditary component. The first aim of this study was to analyse the possible effect of IL-10 genotypes and haplotypes on IL-10 plasma levels in a healthy Finnish population. As previous reports have demonstrated that endogenously produced IL-1 induces LPS-stimulated IL-10 production and that IL-10 inhibits synthesis of IL-1 in human monocytes, it is apparent that these two cytokines form an autoregulatory feedback loop. Secondly, we were interested whether any relationship could be found between IL-10 and IL-1beta in vivo. To examine this, the influence of IL-1alpha -889, IL-1beta -511 and IL-1Ra VNTR genotypes and IL-10 genotypes/haplotypes (ACC, GCC and ATA) on IL-10 plasma levels, and a putative correlation between IL-10 and IL-1alpha plasma levels were analysed. Four hundred adult blood samples were obtained from the Finnish Red Cross Blood Transfusion Centre, Tampere. The IL-10, IL-1alpha, IL-1beta and IL-1Ra gene polymorphisms were analysed using PCR. IL-1beta and IL-10 plasma levels were measured using an ELISA method. Our results indicated that increased IL-10 plasma levels were associated with the ATA haplotype (p = 0.03) and, surprisingly, with the IL-1alpha allele 2 carrier status (p = 0.02) in healthy individuals. This IL-1alpha 2+/ATA+ combination was found in 93 subjects out of 400 analysed (23%) and was associated with significantly high IL-10 plasma levels (p = 0.002). When individuals were classified into three groups, with no detectable IL-10 plasma levels (n = 145), with moderate levels (n = 152) and with high levels (n = 100) of IL-10, the IL-1alpha2+/ATA+ combination was more likely present among those with high levels than among those with undetectable levels of IL-10 (OR = 3.3, 95% CI 1.8 - 6.0, p < 0.001) or those with moderate levels of IL-10 (OR = 2.0, 95% CI 1.2 - 3.6, p = 0.012). Besides the observed association between IL-1alpha genotype and IL-10 levels, a moderate correlation was found between IL-10 and IL-1beta levels (r = 0.6, p = 0.01) among IL-10 producers (n = 252). The present findings suggest that the genotype combination of IL-1alpha 2+/ATA+ has a regulatory effect on basal IL-10 levels and that among individuals with measurable IL-10 plasma levels, IL-1beta and IL-10 basal levels correlate. Until now, data on the feedback loop between IL-1 and IL-10 cytokines have been based on studies in vitro, but now our results suggest that this relationship may also exist in vivo.
- Published
- 2002
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