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482 results on '"SKOGSTRAND, KRISTIN"'

1. Publisher Correction: Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots

Author

Albiñana, Clara, Zhu, Zhihong, Borbye-Lorenzen, Nis, Boelt, Sanne Grundvad, Cohen, Arieh S., Skogstrand, Kristin, Wray, Naomi R., Revez, Joana A., Privé, Florian, Petersen, Liselotte V., Bulik, Cynthia M., Plana-Ripoll, Oleguer, Musliner, Katherine L., Agerbo, Esben, Børglum, Anders D., Hougaard, David M., Nordentoft, Merete, Werge, Thomas, Mortensen, Preben Bo, Vilhjálmsson, Bjarni J., and McGrath, John J.

Published
2024
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3. Inflammatory markers in relation to maternal lifestyle and adverse pregnancy outcomes in twin pregnancies

Author

Larsen, Helle, Holmskov, Anni, Andreasen, Kirsten Riis, Uldbjerg, Niels, Ramb, Jan, Sperling, Lene, Hinterberger, Stefan, Krebs, Lone, Zingenberg, Helle, Weiss, Eva-Christine, Strobl, Isolde, Laursen, Lone, Christensen, Jeanette Tranberg, Skogstrand, Kristin, Vogel, Ida, Krampl-Bettelheim, Elisabeth, Tabor, Ann, Christiansen, Cecilie Holm, Kirk, Mille, Worda, Katharina, Hegaard, Hanne Kristine, and Rode, Line

Published
2024
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4. Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots

Author

Albiñana, Clara, Zhu, Zhihong, Borbye-Lorenzen, Nis, Boelt, Sanne Grundvad, Cohen, Arieh S., Skogstrand, Kristin, Wray, Naomi R., Revez, Joana A., Privé, Florian, Petersen, Liselotte V., Bulik, Cynthia M., Plana-Ripoll, Oleguer, Musliner, Katherine L., Agerbo, Esben, Børglum, Anders D., Hougaard, David M., Nordentoft, Merete, Werge, Thomas, Mortensen, Preben Bo, Vilhjálmsson, Bjarni J., and McGrath, John J.

Published
2023
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7. The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

Author

Borbye-Lorenzen, Nis, Zhu, Zhihong, Agerbo, Esben, Albiñana, Clara, Benros, Michael E., Bian, Beilei, Børglum, Anders D., Bulik, Cynthia M., Debost, Jean-Christophe Philippe Goldtsche, Grove, Jakob, Hougaard, David M., McRae, Allan F., Mors, Ole, Mortensen, Preben Bo, Musliner, Katherine L., Nordentoft, Merete, Petersen, Liselotte V., Privé, Florian, Sidorenko, Julia, Skogstrand, Kristin, Werge, Thomas, Wray, Naomi R., Vilhjálmsson, Bjarni J., and McGrath, John J.

Published
2023
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8. Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth.

Author

Wang, Yunpeng, Nudel, Ron, Benros, Michael E, Skogstrand, Kristin, Fishilevich, Simon, iPSYCH-BROAD, Lancet, Doron, Sun, Jiangming, Hougaard, David M, Andreassen, Ole A, Mortensen, Preben Bo, Buil, Alfonso, Hansen, Thomas F, Thompson, Wesley K, and Werge, Thomas

Subjects
iPSYCH-BROAD, Genetics, Developmental Biology
Abstract

Circulating inflammatory markers are essential to human health and disease, and they are often dysregulated or malfunctioning in cancers as well as in cardiovascular, metabolic, immunologic and neuropsychiatric disorders. However, the genetic contribution to the physiological variation of levels of circulating inflammatory markers is largely unknown. Here we report the results of a genome-wide genetic study of blood concentration of ten cytokines, including the hitherto unexplored calcium-binding protein (S100B). The study leverages a unique sample of neonatal blood spots from 9,459 Danish subjects from the iPSYCH initiative. We estimate the SNP-heritability of marker levels as ranging from essentially zero for Erythropoietin (EPO) up to 73% for S100B. We identify and replicate 16 associated genomic regions (p < 5 x 10-9), of which four are novel. We show that the associated variants map to enhancer elements, suggesting a possible transcriptional effect of genomic variants on the cytokine levels. The identification of the genetic architecture underlying the basic levels of cytokines is likely to prompt studies investigating the relationship between cytokines and complex disease. Our results also suggest that the genetic architecture of cytokines is stable from neonatal to adult life.

Published
2020

9. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.

Author

Liu, Xueping, Helenius, Dorte, Skotte, Line, Beaumont, Robin N, Wielscher, Matthias, Geller, Frank, Juodakis, Julius, Mahajan, Anubha, Bradfield, Jonathan P, Lin, Frederick TJ, Vogelezang, Suzanne, Bustamante, Mariona, Ahluwalia, Tarunveer S, Pitkänen, Niina, Wang, Carol A, Bacelis, Jonas, Borges, Maria C, Zhang, Ge, Bedell, Bruce A, Rossi, Robert M, Skogstrand, Kristin, Peng, Shouneng, Thompson, Wesley K, Appadurai, Vivek, Lawlor, Debbie A, Kalliala, Ilkka, Power, Christine, McCarthy, Mark I, Boyd, Heather A, Marazita, Mary L, Hakonarson, Hakon, Hayes, M Geoffrey, Scholtens, Denise M, Rivadeneira, Fernando, Jaddoe, Vincent WV, Vinding, Rebecca K, Bisgaard, Hans, Knight, Bridget A, Pahkala, Katja, Raitakari, Olli, Helgeland, Øyvind, Johansson, Stefan, Njølstad, Pål R, Fadista, João, Schork, Andrew J, Nudel, Ron, Miller, Daniel E, Chen, Xiaoting, Weirauch, Matthew T, Mortensen, Preben Bo, Børglum, Anders D, Nordentoft, Merete, Mors, Ole, Hao, Ke, Ryckman, Kelli K, Hougaard, David M, Kottyan, Leah C, Pennell, Craig E, Lyytikainen, Leo-Pekka, Bønnelykke, Klaus, Vrijheid, Martine, Felix, Janine F, Lowe, William L, Grant, Struan FA, Hyppönen, Elina, Jacobsson, Bo, Jarvelin, Marjo-Riitta, Muglia, Louis J, Murray, Jeffrey C, Freathy, Rachel M, Werge, Thomas M, Melbye, Mads, Buil, Alfonso, and Feenstra, Bjarke

Subjects
Chromosomes, Human, Pair 2, Fetus, Humans, Premature Birth, Cytokines, Gestational Age, Pregnancy, Polymorphism, Single Nucleotide, Genome, Human, Infant, Newborn, Female, Genome-Wide Association Study, Chromosomes, Human, Pair 2, Polymorphism, Single Nucleotide, Genome, Infant, Newborn
Abstract

The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P = 3.96 × 10-14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality.

Published
2019

10. Neonatal Inflammatory Markers Are Associated with Childhood B-cell Precursor Acute Lymphoblastic Leukemia

Author

Søegaard, Signe Holst, Rostgaard, Klaus, Skogstrand, Kristin, Wiemels, Joseph Leo, Schmiegelow, Kjeld, and Hjalgrim, Henrik

Subjects
Pediatric, Childhood Leukemia, Pediatric Research Initiative, Prevention, Cancer, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Pediatric Cancer, Clinical Research, Hematology, 2.1 Biological and endogenous factors, Aetiology, Reproductive health and childbirth, Inflammatory and immune system, Birth Weight, Case-Control Studies, Child, Child, Preschool, Denmark, Female, Humans, Infant, Infant, Newborn, Inflammation, Karyotyping, Male, Neonatal Screening, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Proportional Hazards Models, Registries, Risk Factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

It has been proposed that children with acute lymphoblastic leukemia (ALL) are born with a dysregulated immune function that together with postnatal environmental exposures causes childhood ALL. Despite its importance for the understanding of ALL etiology, this hypothesis has been inadequately explored. In a population-based case-control study, we measured the concentrations of 10 cytokines and other inflammatory markers on neonatal dried blood spots from 178 children who at ages 1 to 9 years were diagnosed with B-cell precursor ALL and 178 matched controls. Through linkage with Danish nationwide registers, we also assessed whether neonatal inflammatory markers were associated with previously demonstrated risk factors for childhood ALL. Children who developed B-cell precursor ALL had significantly lower neonatal concentrations of IL8, soluble IL6 receptor (sIL6R) α, TGFβ1, monocyte chemotactic protein (MCP)-1, and C-reactive protein (CRP) and higher concentrations of IL6, IL17, and IL18 compared with matched controls. Concentrations of IL10 were below the detection level for both patients and controls. Birth order (IL18 and CRP), gestational age (sIL6Rα, TGFβ1, and CRP), and sex (sIL6Rα, IL8, and CRP), but not maternal age, infections during pregnancy, birth weight nor mode of delivery were significantly associated with the neonatal concentrations of inflammatory markers. Our findings support the hypothesis that children who later develop B-cell precursor ALL are born with a dysregulated immune function.Significance: Children who develop acute lymphoblastic leukemia are immunologically distinct at birth and could potentially react abnormally to infections in early childhood. Cancer Res; 78(18); 5458-63. ©2018 AACR.

Published
2018

11. Smoking during pregnancy and risk of multiple sclerosis in offspring and mother:A Danish nationwide register-based cohort study

Author

Nielsen, Nete Munk, Frisch, Morten, Gørtz, Sanne, Stenager, Egon, Skogstrand, Kristin, Hougaard, David M., Ascherio, Alberto, Rostgaard, Klaus, Hjalgrim, Henrik, Nielsen, Nete Munk, Frisch, Morten, Gørtz, Sanne, Stenager, Egon, Skogstrand, Kristin, Hougaard, David M., Ascherio, Alberto, Rostgaard, Klaus, and Hjalgrim, Henrik

Abstract

Background: The association between intra-uterine exposure to maternal smoking and risk of multiple sclerosis (MS) has been little studied and with conflicting results. Objective: To examine the risk of MS in offspring exposed intra-uterine to maternal smoking. In addition, to re-examine prior observations of an elevated risk of MS among smokers, assuming that self-reported smoking during pregnancy reflects the woman’s general smoking habits. Methods: The study cohort included all Danish women, pregnant in the period 1991–2018, (n = 789,299) and singletons from these pregnancies (n = 879,135). Nationwide information on maternal smoking during pregnancy and MS cases in the study cohort were obtained from the Medical Birth Register and the National Patient Register. Cox regression analysis was used to estimate hazard ratios (HRs) for the association between smoking and MS risk. Results: Women who smoked during pregnancy had a 42% increased risk of developing MS compared with non-smoking women (HR = 1.42 (1.32–1.52), n = 1,296). The risk of MS among singletons of women who smoked during pregnancy was 38% higher than that among singletons born to non-smoking women (HR = 1.38 (1.08–1.76), n = 110). Conclusion: Our observations add further to the evidence implicating smoking in the development of MS and suggest that intra-uterine exposure to tobacco smoke may increase MS risk., Background: The association between intra-uterine exposure to maternal smoking and risk of multiple sclerosis (MS) has been little studied and with conflicting results. Objective: To examine the risk of MS in offspring exposed intra-uterine to maternal smoking. In addition, to re-examine prior observations of an elevated risk of MS among smokers, assuming that self-reported smoking during pregnancy reflects the woman’s general smoking habits. Methods: The study cohort included all Danish women, pregnant in the period 1991–2018, (n = 789,299) and singletons from these pregnancies (n = 879,135). Nationwide information on maternal smoking during pregnancy and MS cases in the study cohort were obtained from the Medical Birth Register and the National Patient Register. Cox regression analysis was used to estimate hazard ratios (HRs) for the association between smoking and MS risk. Results: Women who smoked during pregnancy had a 42% increased risk of developing MS compared with non-smoking women (HR = 1.42 (1.32–1.52), n = 1,296). The risk of MS among singletons of women who smoked during pregnancy was 38% higher than that among singletons born to non-smoking women (HR = 1.38 (1.08–1.76), n = 110). Conclusion: Our observations add further to the evidence implicating smoking in the development of MS and suggest that intra-uterine exposure to tobacco smoke may increase MS risk.

Published
2024

17. Smoking during pregnancy and risk of multiple sclerosis in offspring and mother: A Danish nationwide register-based cohort study.

Author

Nielsen, Nete Munk, Frisch, Morten, Gørtz, Sanne, Stenager, Egon, Skogstrand, Kristin, Hougaard, David M, Ascherio, Alberto, Rostgaard, Klaus, and Hjalgrim, Henrik

Subjects
MULTIPLE pregnancy, MULTIPLE sclerosis, TOBACCO smoke, COHORT analysis, SMOKING
Abstract

Background: The association between intra-uterine exposure to maternal smoking and risk of multiple sclerosis (MS) has been little studied and with conflicting results. Objective: To examine the risk of MS in offspring exposed intra-uterine to maternal smoking. In addition, to re-examine prior observations of an elevated risk of MS among smokers, assuming that self-reported smoking during pregnancy reflects the woman's general smoking habits. Methods: The study cohort included all Danish women, pregnant in the period 1991–2018, (n = 789,299) and singletons from these pregnancies (n = 879,135). Nationwide information on maternal smoking during pregnancy and MS cases in the study cohort were obtained from the Medical Birth Register and the National Patient Register. Cox regression analysis was used to estimate hazard ratios (HRs) for the association between smoking and MS risk. Results: Women who smoked during pregnancy had a 42% increased risk of developing MS compared with non-smoking women (HR = 1.42 (1.32–1.52), n = 1,296). The risk of MS among singletons of women who smoked during pregnancy was 38% higher than that among singletons born to non-smoking women (HR = 1.38 (1.08–1.76), n = 110). Conclusion: Our observations add further to the evidence implicating smoking in the development of MS and suggest that intra-uterine exposure to tobacco smoke may increase MS risk. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Assessment of circulating apoE4 levels from dried blood spot samples in a large survey setting.

Author

Borbye‐Lorenzen, Nis, Deza‐Lougovski, Yacila I., Holmgaard, Solveig, Weiss, Luzia M., Bækvad‐Hansen, Marie, Skogstrand, Kristin, Rieckmann, Anna, Börsch‐Supan, Axel, and Börsch‐Supan, Martina

Subjects
APOLIPOPROTEIN E4, APOLIPOPROTEIN E, DISEASE risk factors, CARRIER proteins, BLOOD sampling
Abstract

INTRODUCTION: The apolipoprotein E (APOE) ε4 allele is associated with high risk for Alzheimer's disease. It is unclear whether individual levels of the circulating apoE4 protein in ε4 carriers confer additional risk. Measuring apoE4 protein levels from dried blood spots (DBS) has the potential to provide information on genetic status as well as circulating levels and to include these measures in large survey settings. METHODS: We developed a multiplex immunoassay to detect apoE4 protein levels in DBS from 15,974 participants, aged 50+ from Wave 6 of the Survey of Health, Ageing and Retirement in Europe (SHARE). RESULTS: The apoE4 protein signal was presented in two separable distributions. One distribution corresponded to carriers of at least one copy of the ε4 allele. Fieldwork cofounders affected protein levels but did not explain individual differences. DISCUSSION: Future research should investigate how genotype and apoE4 level interact with lifestyle and other variables to impact cognitive aging. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Blood Cytokine Profiles Associated with Distinct Patterns of Bronchopulmonary Dysplasia among Extremely Low Birth Weight Infants

Author

Das, Abhik, McDonald, Scott A., Jobe, Alan H., Laptook, Abbot R., Oh, William, Rubin, Lewis P., Hensman, Angelita M., Fanaroff, Avroy A., Walsh, Michele C., Newman, Nancy S., Siner, Bonnie S., Donovan, Edward F., Narendran, Vivek, Alexander, Barbara, Grisby, Cathy, Hessling, Jody, Mersmann, Marcia Worley, Mincey, Holly L., Cotten, C. Michael, Auten, Kathy J., Hale, Ellen C., Wright, Linda L., Yaffe, Sumner J., McClure, Elizabeth M., Poindexter, Brenda B., Lemons, James A., Appel, Diana D., Herron, Dianne E., Wilson, Leslie D., Poole, W. Kenneth, Hastings, Betty K., Zaterka-Baxter, Kristin M., O'Donnell Auman, Jeanette, Schaefer, Scott E., Stevenson, David K., Van Meurs, Krisa P., Ball, M. Bethany, Skogstrand, Kristin, Hougaard, David M., Collins, Monica V., Cosby, Shirley S., Finer, Neil N., Rasmussen, Maynard R., Kaegi, David, Arnell, Kathy, Demetrio, Clarence, Rich, Wade, Bauer, Charles R., Duara, Shahnaz, Everett-Thomas, Ruth, Papile, Lu-Ann, Lacy, Conra Backstrom, Korones, Sheldon B., Bada, Henrietta S., Hudson, Tina, Salhab, Walid A., Madison, Susie, Kennedy, Kathleen A., Morris, Brenda H., Akpa, Esther G., Cluff, Patty A., Franco, Claudia I., Lis, Anna E., McDavid, Georgia E., Tate, Patti Pierce, O'Shea, T. Michael, Peters, Nancy J., Konduri, G. Ganesh, Bara, Rebecca, Muran, Geraldine, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, D'Angio, Carl T., Ambalavanan, Namasivayam, Carlo, Waldemar A., Shankaran, Seetha, Goldberg, Ronald N., Ehrenkranz, Richard A., Tyson, Jon E., Stoll, Barbara J., and Higgins, Rosemary D.

Published
2016
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29. The genetic and phenotypic correlates of neonatal Complement Component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

Author

Borbye-Lorenzen, Nis, primary, Zhu, Zhihong, additional, Agerbo, Esben, additional, Albiñana, Clara, additional, Benros, Michael E., additional, Bian, Beilei, additional, Børglum, Anders D, additional, Bulik, Cynthia M., additional, Goldtsche Debost, Jean-Christophe Philippe, additional, Grove, Jakob, additional, Hougaard, David M., additional, McRae, Allan F, additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Musliner, Katherine L., additional, Nordentoft, Merete, additional, Petersen, Liselotte V., additional, Privé, Florian, additional, Sidorenko, Julia, additional, Skogstrand, Kristin, additional, Werge, Thomas, additional, Wray, Naomi R, additional, Vilhjálmsson, Bjarni J., additional, and McGrath, John J., additional

Published
2022
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32. Genetic correlates of vitamin D-binding protein and 25 hydroxyvitamin D in neonatal dried blood spots

Author

Albiñana, Clara, primary, Zhu, Zhihong, additional, Borbye-Lorenzen, Nis, additional, Boelt, Sanne Grundvad, additional, Cohen, Arieh S., additional, Skogstrand, Kristin, additional, Wray, Naomi R., additional, Revez, Joana A., additional, Privé, Florian, additional, Petersen, Liselotte V., additional, Bulik, Cynthia M., additional, Plana-Ripoll, Oleguer, additional, Musliner, Katherine L., additional, Agerbo, Esben, additional, Børglum, Anders D., additional, Hougaard, David M., additional, Nordentoft, Merete, additional, Werge, Thomas, additional, Mortensen, Preben Bo, additional, Vilhjálmsson, Bjarni J., additional, and McGrath, John J., additional

Published
2022
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33. Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark:10 Years of Experience

Author

Lind-Holst, Marie, Bækvad-Hansen, Marie, Berglund, Agnethe, Cohen, Arieh S., Melgaard, Lars, Skogstrand, Kristin, Duno, Morten, Main, Katharina M., Hougaard, David Michael, Gravholt, Claus Højbjerg, Hansen, Dorte, Lind-Holst, Marie, Bækvad-Hansen, Marie, Berglund, Agnethe, Cohen, Arieh S., Melgaard, Lars, Skogstrand, Kristin, Duno, Morten, Main, Katharina M., Hougaard, David Michael, Gravholt, Claus Højbjerg, and Hansen, Dorte

Abstract

Introduction: Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined. Methods: All newborns in Denmark born during 1999-2018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review. Results: A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (p = 0.07). Discussion and Conclusion: Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns.

Published
2022

42. ApoE4 binding in dried blood spots is associated with lower cognition in a population‐based sample of 50+ non‐demented adults.

Author

Araujo, Yacila I. Deza, Weiss, Luzia M, Groh, Rebecca, Horton, Hannah M., Borbye‐Lorenzen, Nis, Skogstrand, Kristin, Holmgaard, Solveig, Andersen‐Ranberg, Karen, Ludmark, Vania Panes, Börsch‐Supan, Axel, Börsch‐Supan, Martina, and Rieckmann, Anna

Abstract

Background: The ApoE ε4 allele is a major risk factor for late‐onset Alzheimer's disease and cognitive decline in ageing (Corder et al., 1993) but the role of the circulating ApoE4 protein on cognition is still under debate (Simon et al., 2012; Wang et al., 2014). Here, we report the distribution of circulating ApoE4 protein, assessed from dried blood spots, in a large population‐based sample. Preliminary analyses examined its associations with cognition and lifestyle factors. Method: Measures of memory (word recall), verbal fluency and dried blood spot samples were collected during the 6th Wave of the Survey of Health, Ageing and Retirement in Europe ‐ SHARE (N = 12,531, 50y and over, 59.3% females). An assay to specifically bind to the ApoE4 protein in dried blood spots was developed. Data driven cut‐offs were tested to divide the ApoE4 binding distributions in specific and non‐specific types. Next, multiple linear regressions were used to test the association between ApoE4 binding type and cognition. Models were adjusted for available demographic, lifestyle and health‐related variables. Interaction terms between age and ApoE4 binding type were created. Finally, specific binding levels were used as a continuous outcome to assess whether they were associated with demographic, health or lifestyle variables. Result: A cut‐off of 50.000 pg/mL was chosen to separate the distributions of specific (28.4%) vs. non‐specific (71.6%) ApoE4 binding (Fig. 1). Belonging to the specific binding group had a significant negative effect on word recall (ps < 0.001) but not on verbal fluency. Interaction effects between age and specific ApoE4 binding were observed in all models, with the effect of specific ApoE4 binding on cognition magnified for adults aged 75‐84y (Fig. 2A, 2B and 2C). Finally, higher BMI, female sex and hypertension (all ps < 0.05) were predictors of higher levels of specific ApoE4 binding. Conclusion: Specific and non‐specific binding to the ApoE4 protein, assessed in dried blood spots, followed known population frequencies of ApoE ε4 allele (Gerdes, 2003). Specific ApoE4 binding was associated with worse cognitive performance. Higher specific ApoE4 levels were associated with female sex and cardiovascular factors. [ABSTRACT FROM AUTHOR]

Published
2023
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47. The effect of pre-analytical handling on the stability of fractalkine, monocyte chemoattractant protein 1 (MCP1), interleukin 6 and interleukin 8 in samples of human cerebrospinal fluid

Author

Mortensen, Winnie Charlotte Pedersen, primary, Bendix, Laila, additional, Jensen, Hanne Irene, additional, Varnum, Claus, additional, Rasmussen, Lasse Enkebølle, additional, Lauridsen, Jørgen T., additional, Borbye-Lorenzen, Nis, additional, Skogstrand, Kristin, additional, Toft, Palle, additional, Vaegter, Henrik Bjarke, additional, and Blichfeldt-Eckhardt, Morten Rune, additional

Published
2021
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48. Delivery Modality Affect Neonatal Levels of Inflammation, Stress, and Growth Factors

Author

Kiilerich, Pia, Cortes, Rikke, Lausten-Thomsen, Ulrik, Borbye-Lorenzen, Nis, Holmgaard, Solveig, Skogstrand, Kristin, Kiilerich, Pia, Cortes, Rikke, Lausten-Thomsen, Ulrik, Borbye-Lorenzen, Nis, Holmgaard, Solveig, and Skogstrand, Kristin

Abstract

Introduction: As part of the study CODIBINE, Correlations and Diagnoses for Biomarkers in New-borns, the main objective of the study was to explore neonatal inflammation, stress, neurodevelopment, and growth factors after in-labor and pre-labor cesarean section compared to vaginal delivery. Increasing evidence has shown that birth delivery mode has an impact on imminent and long-term child health. However, the effect of the timing of cesarean section is insufficiently elucidated. The main objective of the study was to explore the effect of different delivery modes, vaginal delivery compared to cesarean section with or without initiation of labor, on the infants. Methods: We designed a retrospective cohort study, including dried blood spot samples from mature (gestational age ≥ 37) newborns delivered in the years 2009-2011. The newborns were divided into three groups after delivery mode: (1) pre-labor cesarean section (n = 714), i.e., cesarean delivery without initiation of labor, (2) in-labor cesarean section (n = 655), i.e., cesarean section after initiation of labor, and (3) vaginal delivery (n = 5,897). We measured infant levels of inflammatory (IL-18, MCP-1, CRP, sTNF RI), stress (HSP-70), growth (EGF, VEGF-A), and neurotrophic factors (BDNF, NT-3, S100B) 2–4 days after birth. Results: The neonatal levels of inflammatory and stress markers were significantly lower, while the levels of growth factors were higher after pre-labor cesarean section compared to vaginal delivery. The biomarker levels were similar after in-labor cesarean section and vaginal delivery. Removing cases with pre-labor rupture of membranes and artificial rupture of membranes in the calculations did not change the results. The levels of neurotrophic factors were unaffected by delivery form. Males had generally higher levels of inflammation and lower levels of growth and neurotrophic factors. Overall, the levels of inflammatory markers increased, and the growth factors decreased with increas

Published
2021

49. Use of molecular genetic analyses in danish routine newborn screening

Author

Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft, Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, and Olsen, Rikke Katrine Jentoft

Abstract

Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.

Published
2021

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