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17 results on '"Nexø, Bjørn Andersen"'

1. Polymorphisms in the Toll-like receptor and the IL-23/IL-17 pathways were associated with susceptibility to inflammatory bowel disease in a Danish cohort

Author

Bank, Steffen, Andersen, Paal Skytt, Burisch, Johan, Pedersen, Natalia, Roug, Stine, Galsgaard, Julied, Turino, Stine Ydegaard, Brodersen, Jacob Broder, Rashid, Shaista, Rasmussen, Britt Kaiser, Avlund, Sara, Olesen, Thomas Bastholm, Hoffmann, Hans Jürgen, Nexø, Bjørn Andersen, Sode, Jacob, Vogel, Ulla, Andersen, Vibeke, Bank, Steffen, Andersen, Paal Skytt, Burisch, Johan, Pedersen, Natalia, Roug, Stine, Galsgaard, Julied, Turino, Stine Ydegaard, Brodersen, Jacob Broder, Rashid, Shaista, Rasmussen, Britt Kaiser, Avlund, Sara, Olesen, Thomas Bastholm, Hoffmann, Hans Jürgen, Nexø, Bjørn Andersen, Sode, Jacob, Vogel, Ulla, and Andersen, Vibeke

Published
2015

2. Polymorphisms in the Toll-like receptor and the IL-23/IL-17 pathways were associated with susceptibility to inflammatory bowel disease in a Danish cohort

Author

Bank, Steffen, Andersen, Paal Skytt, Burisch, Johan, Pedersen, Natalia, Roug, Stine, Galsgaard, Julied, Turino, Stine Ydegaard, Brodersen, Jacob Broder, Rashid, Shaista, Rasmussen, Britt Kaiser, Avlund, Sara, Olesen, Thomas Bastholm, Hoffmann, Hans Jürgen, Nexø, Bjørn Andersen, Sode, Jacob, Vogel, Ulla, Andersen, Vibeke, Bank, Steffen, Andersen, Paal Skytt, Burisch, Johan, Pedersen, Natalia, Roug, Stine, Galsgaard, Julied, Turino, Stine Ydegaard, Brodersen, Jacob Broder, Rashid, Shaista, Rasmussen, Britt Kaiser, Avlund, Sara, Olesen, Thomas Bastholm, Hoffmann, Hans Jürgen, Nexø, Bjørn Andersen, Sode, Jacob, Vogel, Ulla, and Andersen, Vibeke

Published
2015

4. The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAP

Author

Vangsted, Annette J., Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F., Gregersen, Henrik, Nexø, Bjørn Andersen, Vogel, Ulla Birgitte, Vangsted, Annette J., Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F., Gregersen, Henrik, Nexø, Bjørn Andersen, and Vogel, Ulla Birgitte

Published
2011

5. The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAP

Author

Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, Vogel, Ulla Birgitte, Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, and Vogel, Ulla Birgitte

Abstract

The gene RAI was originally described as an inhibitor of RelA/p65 subunit of nuclear factor ¿B (NF-¿B). Here, we analyse the association between genetic variation in the genes RAI and CD3EAP and outcome of 348 myeloma patients treated with high-dose treatment (HDT), 146 patients treated with interferon-a (INF-a) as maintenance treatment, 177 patients treated with thalidomide, and 74 patients treated with bortezomib at relapse and address if the effects of polymorphisms in CD3EAP and RAI are modified by a functional polymorphism in NF¿B1. By linkage disequilibrium mapping, we found that variant alleles of several polymorphisms in a sub-region of 19q13.3 spanning the regions RAI-intron1-1 to RAI intron1-3 and the region exon1 to exon3-6 in CD3EAP were associated with prolonged time-to-treatment failure (TTF; p¿=¿0.003) and overall survival (OS; p¿=¿0.02). Haplotype analyses revealed that none of the haplotypes were more strongly associated to TTF or OS than the two strongly linked SNPs, RAI-intron1-1 (rs4572514) and CD3EAP G-21A (rs967591). The association of RAI-intron1-1 and CD3EAP G-21A with TTF was independent of NFKB1-94 ins/del, but homozygous ins-allele carriers which were also variant allele carriers of RAI-intron1-1 or CD3EAP G-21A had the longest OS. Among patients treated with INF-a or thalidomide, no effect was seen in relation to genotype. Our results indicate that polymorphism in RAI and CD3EAP are associated with outcome of myeloma patients treated with HDT. Combination analyses with the functional polymorphism in NFKB1 suggest that a possibly functional effect of RAI or CD3EAP could be related to NF-¿B availability.

Published
2011

6. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author

Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, and Pedersen, Oluf

Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Published
2011

7. The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1

Author

Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, Pedersen, Finn Skou, Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, and Pedersen, Finn Skou

Abstract

We have investigated the role of human endogenous retroviruses in multiple sclerosis by analyzing the DNA of patients and controls in 4 cohorts for associations between multiple sclerosis and polymorphisms near viral restriction genes or near endogenous retroviral loci with one or more intact or almost-intact genes. We found that SNPs in the gene TRIM5 were inversely correlated with disease. Conversely, SNPs around one retroviral locus, HERV-Fc1, showed a highly significant association with disease. The latter association was limited to a narrow region that contains no other known genes. We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. If these results are confirmed, they point to new modes of treatment for multiple sclerosis.

Published
2011

8. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author

Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, and Pedersen, Oluf

Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Published
2011

9. The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1

Author

Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, Pedersen, Finn Skou, Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, and Pedersen, Finn Skou

Abstract

We have investigated the role of human endogenous retroviruses in multiple sclerosis by analyzing the DNA of patients and controls in 4 cohorts for associations between multiple sclerosis and polymorphisms near viral restriction genes or near endogenous retroviral loci with one or more intact or almost-intact genes. We found that SNPs in the gene TRIM5 were inversely correlated with disease. Conversely, SNPs around one retroviral locus, HERV-Fc1, showed a highly significant association with disease. The latter association was limited to a narrow region that contains no other known genes. We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. If these results are confirmed, they point to new modes of treatment for multiple sclerosis.

Published
2011

10. The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAP

Author

Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, Vogel, Ulla Birgitte, Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, and Vogel, Ulla Birgitte

Abstract

The gene RAI was originally described as an inhibitor of RelA/p65 subunit of nuclear factor ¿B (NF-¿B). Here, we analyse the association between genetic variation in the genes RAI and CD3EAP and outcome of 348 myeloma patients treated with high-dose treatment (HDT), 146 patients treated with interferon-a (INF-a) as maintenance treatment, 177 patients treated with thalidomide, and 74 patients treated with bortezomib at relapse and address if the effects of polymorphisms in CD3EAP and RAI are modified by a functional polymorphism in NF¿B1. By linkage disequilibrium mapping, we found that variant alleles of several polymorphisms in a sub-region of 19q13.3 spanning the regions RAI-intron1-1 to RAI intron1-3 and the region exon1 to exon3-6 in CD3EAP were associated with prolonged time-to-treatment failure (TTF; p¿=¿0.003) and overall survival (OS; p¿=¿0.02). Haplotype analyses revealed that none of the haplotypes were more strongly associated to TTF or OS than the two strongly linked SNPs, RAI-intron1-1 (rs4572514) and CD3EAP G-21A (rs967591). The association of RAI-intron1-1 and CD3EAP G-21A with TTF was independent of NFKB1-94 ins/del, but homozygous ins-allele carriers which were also variant allele carriers of RAI-intron1-1 or CD3EAP G-21A had the longest OS. Among patients treated with INF-a or thalidomide, no effect was seen in relation to genotype. Our results indicate that polymorphism in RAI and CD3EAP are associated with outcome of myeloma patients treated with HDT. Combination analyses with the functional polymorphism in NFKB1 suggest that a possibly functional effect of RAI or CD3EAP could be related to NF-¿B availability.

Published
2011

11. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author

Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn Andersen, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, and Pedersen, Oluf

Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Published
2011

12. The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1

Author

Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, Pedersen, Finn Skou, Nexø, Bjørn Andersen, Christensen, Tove, Frederiksen, Jette, Møller-Larsen, Anné, Oturai, Annette B, Fredsted, Palle Villesen, Hansen, Bettina, Nissen, Kari Konstantin, Laska, Magdalena Janina, Petersen, Trine Skov, Bonnesen, Sandra, Hedemand, Anne, Wu, Tingting, Wang, Xinjie, Zhang, Xiuqing, Brudek, Tomasz, Maric, Romana, Søndergaard, Helle B, Sellebjerg, Finn, Brusgaard, Klaus, Kjeldbjerg, Anders Langfelt, Rasmussen, Henrik B, Nielsen, Anders L, Nyegaard, Mette, Petersen, Thor, Børglum, Anders, and Pedersen, Finn Skou

Abstract

We have investigated the role of human endogenous retroviruses in multiple sclerosis by analyzing the DNA of patients and controls in 4 cohorts for associations between multiple sclerosis and polymorphisms near viral restriction genes or near endogenous retroviral loci with one or more intact or almost-intact genes. We found that SNPs in the gene TRIM5 were inversely correlated with disease. Conversely, SNPs around one retroviral locus, HERV-Fc1, showed a highly significant association with disease. The latter association was limited to a narrow region that contains no other known genes. We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. If these results are confirmed, they point to new modes of treatment for multiple sclerosis.

Published
2011

13. The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAP

Author

Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, Vogel, Ulla Birgitte, Vangsted, Annette Juul, Klausen, Tobias Wirenfeldt, Gimsing, Peter, Abildgaard, Niels, Andersen, Niels F, Gregersen, Henrik, Nexø, Bjørn Andersen, and Vogel, Ulla Birgitte

Abstract

The gene RAI was originally described as an inhibitor of RelA/p65 subunit of nuclear factor ¿B (NF-¿B). Here, we analyse the association between genetic variation in the genes RAI and CD3EAP and outcome of 348 myeloma patients treated with high-dose treatment (HDT), 146 patients treated with interferon-a (INF-a) as maintenance treatment, 177 patients treated with thalidomide, and 74 patients treated with bortezomib at relapse and address if the effects of polymorphisms in CD3EAP and RAI are modified by a functional polymorphism in NF¿B1. By linkage disequilibrium mapping, we found that variant alleles of several polymorphisms in a sub-region of 19q13.3 spanning the regions RAI-intron1-1 to RAI intron1-3 and the region exon1 to exon3-6 in CD3EAP were associated with prolonged time-to-treatment failure (TTF; p¿=¿0.003) and overall survival (OS; p¿=¿0.02). Haplotype analyses revealed that none of the haplotypes were more strongly associated to TTF or OS than the two strongly linked SNPs, RAI-intron1-1 (rs4572514) and CD3EAP G-21A (rs967591). The association of RAI-intron1-1 and CD3EAP G-21A with TTF was independent of NFKB1-94 ins/del, but homozygous ins-allele carriers which were also variant allele carriers of RAI-intron1-1 or CD3EAP G-21A had the longest OS. Among patients treated with INF-a or thalidomide, no effect was seen in relation to genotype. Our results indicate that polymorphism in RAI and CD3EAP are associated with outcome of myeloma patients treated with HDT. Combination analyses with the functional polymorphism in NFKB1 suggest that a possibly functional effect of RAI or CD3EAP could be related to NF-¿B availability.

Published
2011

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