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  • 1.
    Halldén, Christer
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Knobe, K. E.
    Departments of Pediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö.
    Sjörin, E.
    Departments of Pediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö.
    Nilsson, Daniel
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Ljung, R.
    Departments of Pediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö.
    Investigation of disease-associated factors in haemophilia A patients without detectable mutations2012Inngår i: Haemophilia, ISSN 1351-8216, E-ISSN 1365-2516, Vol. 18, nr 3, e132-e137 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    To investigate disease causing mechanism in haemophilia A patients without detectable mutation. Screening for F8 mutations in 307 haemophilia A patients using: re-sequencing and inversion PCR, reverse transcription (RT-PCR) of mRNA, MLPA analysis, haplotyping using SNP and microsatellite markers. No F8 mutations were detected in 9 of the 307 patients (2.9%) using re-sequencing and inversion PCR. MLPA analysis detected duplication in exon 6 in one patient and RT-PCR showed no products for different regions of mRNA in four other patients, indicating failed transcription. No obvious associations were observed between the phenotypes of the nine patients, their F8 haplotypes and the putative mutations detected. The mutation-positive patients carrying the same haplotypes as the mutation-negative patients show a multitude of different mutations, emphasizing the lack of associations at the haplotype level. VWF mutation screening and factor V measurements ruled out type 2N VWD and combined factor V and VIII deficiency respectively. To further investigate a possible role for FVIII interacting factors the haplotypes/diplotypes of F2, F9, F10 and VWF were compared. The nine patients had no specific haplotype/diplotype combination in common that can explain disease. Duplications and faulty transcription contribute to the mutational spectrum of haemophilia A patients where conventional mutation screening fail to identify mutations.

  • 2.
    Halldén, Christer
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Mårtensson, A.
    Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Lund University, Malmö.
    Nilsson, Daniel
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Säll, T.
    Department of Biology, Lund University.
    Lind-Halldén, Christina
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Lidén, Annika C.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Ljung, R.
    Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Lund University, Malmö.
    Origin of Swedish hemophilia B mutations2013Inngår i: Journal of Thrombosis and Haemostasis, ISSN 1538-7933, E-ISSN 1538-7836, Vol. 11, nr 11, 2001-2008 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    BACKGROUND: More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations.

    OBJECTIVES: To describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurrent mutations (RMs) or to a common mutation event (i.e. are identical by descent (IBD)).

    PATIENTS/METHODS: The registered Swedish HB population consists of patients from 86 families. Mutations were identified by resequencing and identical haplotypes were defined using 74 markers and a control population of 285 individuals. The ages of IBD mutations were estimated using ESTIAGE.

    RESULTS: Out of 77 presumably unrelated patients with substitution mutations, 47 patients (61%) had mutations in common with other patients. Haplotyping of the 47 patients showed that 24 patients had IBD mutations (51%) with estimated ages of between two and 23 generations. A majority of these patients had mild disease. Eight of the 15 mutations observed in more than one family were C>T transitions in CpG sites and all eight were RMs.

    CONCLUSIONS: The association of IBD mutations with a mild phenotype is similar to what has been previously observed in hemophilia A. Noteworthy features of the mutations that are common to more than one family are the equal proportions of patients with RM and IBD mutations and the correlation between the occurrence of RMs and C>T transitions at CpG sites.

  • 3.
    Halldén, Christer
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Nilsson, Daniel
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Säll, Torbjorn
    Department of Biology, Lund University.
    Lind-Halldén, Christina
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Lidén, Annika C.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Ljung, R.
    Department of Pediatrics and Malmö Center for Thrombosis and Hemostasis, Lund University.
    Origin of Swedish hemophilia A mutations2012Inngår i: Journal of Thrombosis and Haemostasis, ISSN 1538-7933, E-ISSN 1538-7836, Vol. 10, nr 12, 2503-2511 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

     Background: Hemophilia A (HA) has a high level of variation within the disease class, with more than 1000 mutations being listed in the HAMSTeRS database. At the same time a number of F8 mutations are present in specific populations at high frequencies. Objectives: The simultaneous presence of large numbers of rare mutations and a small number of high-frequency mutations raises questions about the origins of HA mutations. The present study was aimed at describing the origins of HA mutations in the complete Swedish population. The primary issue was to determine what proportion of identical mutations are identical by descent (IBD) and what proportion are attributable to recurrent mutation events. The age of IBD mutations was also determined. Patients/Methods: In Sweden, the care of HA is centralized, and the Swedish HA population consists of ∼ 750 patients from > 300 families (35% severe, 15% moderate, and 50% mild). Identical haplotypes were defined by single-nucleotide polymorphism and microsatellite haplotyping, and the ages of the mutations were estimated with estiage. Results: Among 212 presumably unrelated patients with substitution mutations, 97 (46%) had mutations in common with other patients. Haplotyping of the 97 patients showed that 47 had IBD mutations (22%) with estimated ages of between two and 35 generations. The frequency of mild disease increased with an increasing number of patients sharing the mutations. Conclusions: A majority of the IBD mutations are mild and have age estimates of a few hundred years, but some could date back to the Middle Ages.

  • 4.
    Henmyr, Viktor
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Vandeplas, Griet
    University Hospital Ghent.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Säll, Torbjörn
    Lund University.
    Olze, Heidi
    Charité Berlin.
    Bachert, Claus
    Karolinska Institutet.
    Cardell, Lars Olaf
    Karolinska Institutet.
    Replication study of genetic variants associated with chronic rhinosinusitis and nasal polyposis2014Inngår i: Journal of Allergy and Clinical Immunology, ISSN 0091-6749, E-ISSN 1097-6825, Vol. 133, nr 1, 273-275 s.Artikkel i tidsskrift (Fagfellevurdert)
  • 5.
    Lind-Halldén, Christina
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Dahlen, Anna
    Section of Clinical Genetics, Lund University Hospital.
    Hillarp, Andreas
    Department of Laboratory Medicine, Clinical Chemistry, Lund University.
    Zöller, Bengt
    Center for Primary Health Care Research, Malmö University Hospital.
    Dahlbäck, Björn
    Department of Laboratory Medicine, Clinical Chemistry, Lund University.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency2012Inngår i: Thrombosis and Haemostasis, ISSN 0340-6245, Vol. 108, nr 1, 94-100 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Protein S deficiency is a dominantly inherited disorder that results from mutations in the PROS1 gene. Previous sequencing of the gene failed to detect mutations in eight out of 18 investigated Swedish families, whereas segregation analyses detected large deletions in three out of the eight families. The present study investigates more thoroughly for the presence of deletions but also for other types of rearrangements. FISH analysis confirmed the existence of the three previously identified large deletions, but failed to identify any other type of rearrangement among the eight analysed families. MLPA analysis of the PROS1 gene revealed two smaller deletions covering two and four exons, respectively. Thus, deletions could be found in five out of eight families where no point mutations could be found despite sequencing of the gene. Twelve additional, not previously analysed, families were subsequently analysed using MLPA. The analysis identified two smaller deletions (3 and 4 exons). Including all PS-deficient families, i.e. also the 10 families where sequencing found a causative point mutation, deletions were identified in seven out of 30 PS-deficient families. A strategy of sequencing followed by MLPA analysis in mutation-negative families identified the causative mutation in 15 out of 18 of Swedish PS-deficient families. Most deletions were different as determined by their sizes, locations and flanking haplotypes. FISH (8 families) and MLPA analysis (20 families) failed to identify other types of rearrangements.

  • 6.
    Ljung, R.
    et al.
    Lund University, Department of Paediatrics.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Hemophilia A families with the same mutation are often related: a survey of the Swedish population2012Inngår i: Haemophilia (ISSN 1351-8216) 2012: 18 (supplement 3), p. 109, 2012, Vol. 18, nr Suppl. 3, 109-109 s.Konferansepaper (Annet vitenskapelig)
    Abstract [en]

    Aim: To study if families with hemophilia A in Sweden carrying the same mutation are identical by descent (IBD) or the result of independent mutations (RM).

    Study group: A total of 284 presumed unrelated and unselected Swedish families with hemophilia A comprising all clinical severities. Control group of 254 healthy individuals.

    Methods: Haplotyping was performed using 90 SNP markers (18 within the F8 gene) and 5 microsatellite markers. The frequencies of shared haplotypes were determined in the control group and the ages of the shared haplotypes determined using the program ESTIAGE.

    Results: Analysis of the mutations gave the following results: inversions in introns 1 or 22 were detected in 71 cases, large deletions in 5, small deletions/insertions in 4, and substitutions in 204 patients. For substitutions, a total of 107 mutations occurred in a single individual only, whereas the remaining 35 mutations occurred in 2 or more individuals; 20 mutations occurred in 2 individuals, 9 mutations occurred in 3 individuals, m4 mutations occurred in 4 individuals, and 2 mutations occurred in 7 individuals each, i.e., 97 mutations out of 204 (47%) were either IBD or recurrent mutation. Haplotyping and comparisons with the control group classified 51 of the 97 mutations as IBD. The phenotypes of the 51 individuals were mild (31), moderate (5), and severe (8), and the corresponding mutations had age estimates varying between 150 and 700 years. Inhibitors occurred in both RM and IBD families. One IBD family with mild hemophilia (2105 Tyr>Cys) had 3 members who developed inhibitors.

    Conclusion: Many families with hemophilia A, in particular those with milder forms, carrying the same mutation are IBD, i.e., revision of ‘‘hot-spots’’ for mutation is needed. Few ‘‘clusters of inhibitors’’ were found.

  • 7.
    Ljung, R.
    et al.
    Lund University, Department of Paediatrics.
    Lidén, Annika
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Hemophilia B families with the same mutation are often related: a survey of the Swedish population2012Inngår i: Haemophilia (ISSN 1351-8216) 2012: 18 (supplement 3), p. 109, 2012, Vol. 18, nr Suppl. 3, 109-109 s.Konferansepaper (Annet vitenskapelig)
    Abstract [en]

    Aim: To study if families with hemophilia B in Sweden carrying the same mutation are identical by descent (IBD) or the result of independent mutations (RM).

    Study group: A total of 77 presumed unrelated and unselected Swedish families with hemophilia B comprising all clinical severities (total and large deletions not included). Control group of 256 healthy individuals.

    Methods: Haplotyping was performed using 90 SNP markers (11 within the F9 gene) and 1 microsatellite marker. The frequencies of shared haplotypes were determined in the control group, and the ages of the shared haplotypes will be determined using the program ESTIAGE.

    Results: Analysis of the mutations gave the following results: 5 small deletions (<10bp), 2 small insertions (<10bp), 3 splice site mutations, 14 nonsense mutations, and 53 missense mutations. A total of 30 mutations (39%) occurred in a single individual only, whereas the remaining 47 mutations occurred in 2 or more individuals; 7 mutations occurred in 2 individuals, 4 mutations occurred in 3 individuals, 2 mutations occurred in 4 individuals, 1 mutation occurred in 6 individuals, and 1 mutation occurred in 7 individuals each, i.e., 47 mutations out of 77 (61%) were either IBD or recurrent mutation. Haplotyping and comparisons with the control group classified 21/47 mutations as IBD and 25/47 as RM. The phenotypes of the 21 IBD individuals were mild (17), moderate 2), and severe (1); those of the 25 RM individuals were mild (7), moderate (7), and severe (12). Age estimation of the mutations is ongoing.

    Conclusion: Many families with hemophilia B, in particular those with milder forms, carrying the same mutation are IBD, i.e., revision of ‘‘hot-spots’’ for mutation is needed.

  • 8.
    Mårtensson, Annika
    et al.
    Lund University.
    Letelier, A.
    Lund University.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Ljung, R.
    Lund University.
    Mutation analysis of Swedish haemophilia B families: high frequency of unique mutations2016Inngår i: Haemophilia, ISSN 1351-8216, E-ISSN 1365-2516, Vol. 22, nr 3, 440-445 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    INTRODUCTION: Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is important in genetic counselling, prenatal diagnosis and to predict risk of inhibitor development.

    AIMS: To study the mutation spectrum, frequency of unique recurrent mutations, genotype-phenotype association and inhibitor development in a population-based study of the complete Swedish haemophilia B population.

    METHODS: The study included, facilitated by centralized DNA diagnostics, the complete registered Swedish haemophilia B population (113 families: 47 severe, 22 moderate and 44 mild), each represented by a single patient. Mutation characterization was performed by conventional sequencing of all exons and haplotyping by genotyping of single nucleotide variants and microsatellites.

    RESULTS: A mutation was found in every family: eight had large deletions, three had small deletions (<10 base pair) and 102 had single base pair substitutions (69 missense, 26 nonsense, four splice site and three promoter). Ten novel mutations were found and were predicted to be deleterious. Sixteen mutations (one total gene deletion, 14 substitutions and one acceptor splice site) were present in more than one family. Of the single nucleotide mutations (37/102), 36% arose at CpG sites. Haplotyping of families with identical mutations and present analyses showed that the frequency of unique mutations was at least 65%. Inhibitors developed in 9/47 (19%) patients with severe haemophilia B.

    CONCLUSION: The spectrum of haemophilia B mutations reveals at least 65% of the families carry a unique mutation, but with more inhibitor patients than reported internationally, probably as a result of many 'null' mutations.

  • 9.
    Nilsson, Daniel
    et al.
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Henmyr, Viktor
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Halldén, Christer
    Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
    Säll, T.
    Department of Biology, Lund University.
    Kull, I.
    Department of Clinical Science and Education, Karolinska Institutet.
    Wickman, M.
    Institute of Environmental Medicine Karolinska Institutet.
    Melén, E.
    Institute of Environmental Medicine Karolinska Institutet.
    Cardell, L. O.
    Division of ENT Diseases, CLINTEC, Karolinska Institutet.
    Replication of genomewide associations with allergic sensitization and allergic rhinitis2014Inngår i: Allergy. European Journal of Allergy and Clinical Immunology, ISSN 0105-4538, E-ISSN 1398-9995, Vol. 69, nr 11, 1506-1514 s.Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    BACKGROUND: Three genomewide metastudies have recently reported associations with self-reported allergic rhinitis and allergic sensitization. The three studies together identified a set of 37 loci but showed low concordance. This study investigates the reproducibility of the detected single nucleotide polymorphism (SNP) associations in an extensively characterized longitudinal cohort, BAMSE.

    METHODS: Phenotypic evaluation of allergic rhinitis (AR) and allergic sensitization was performed on 2153 children from BAMSE at 8 and 16 years of age. Allele frequencies of 39 SNPs were investigated for association with the exact allergic phenotypes of the metastudies. Odds ratios and false discovery rates were calculated, and the impact of asthma was evaluated. The cases were also evaluated for age at onset effects (≤ or >8 years of age).

    RESULTS: Association tests of the 39 SNPs identified 12 SNPs with P-values < 0.05 and Q-values < 0.10. Two of the four loci (TLR6-TLR1 and HLA-DQA1-HLA-DQB1) identified in all three original studies were also identified in this study. Three SNPs located in the TLR6-TLR1 locus had the lowest P-values and Q-values < 0.1 when using a well-defined AR phenotype. Two loci showed significant age at onset effects, but the effect of asthma on the associations was very limited.

    CONCLUSION: The TLR6-TLR1 locus is likely to have a central role in the development of allergic disease. The association between genetic variation in the SSTR1-MIPOL1 and TSLP-SLC25A46 loci and age at onset is the first report of age at onset effects in allergic rhinitis.

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