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24 results on '"Abramova, L.I."'

5. Common variant at 16p11.2 conferring risk of psychosis

Author

Steinberg, S., Jong, S. de, Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietilainen, O.P.H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Olsen, L., Hansen, T., Ingason, A., Pirinen, M., Strengman, E., Hougaard, D.M., Orntoft, T., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Etain, B., Bellivier, F., Meary, A., Schurhoff, F., Szoke, A., Ribolsi, M., Magni, V., Siracusano, A., Sperling, S., Rossner, M., Christiansen, C., Kiemeney, B., Franke, B., Berg, L.H. van den, Veldink, J., Curran, S., Bolton, P., Poot, M., Staal, W., Rehnstrom, K., Kilpinen, H., Freitag, C.M., Meyer, J., Magnusson, P., Saemundsen, E., Martsenkovsky, I., Bikshaieva, I., Martsenkovska, I., Vashchenko, O., Raleva, M., Paketchieva, K., Stefanovski, B., Durmishi, N., Milovancevic, M.P., Tosevski, D.L., Silagadze, T., Naneishvili, N., Mikeladze, N., Surguladze, S., Vincent, J.B., Farmer, A., Mitchell, P.B., Wright, A., Schofield, P.R., Fullerton, J.M., Montgomery, G.W., Martin, N.G., Rubino, I.A., Winkel, R. van, Kenis, G., Hert, M. de, Rethelyi, J.M., Bitter, I., Terenius, L., Jonsson, E.G., Bakker, S., Os, J. van, Jablensky, A., Leboyer, M., Bramon, E., et al., Steinberg, S., Jong, S. de, Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietilainen, O.P.H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Olsen, L., Hansen, T., Ingason, A., Pirinen, M., Strengman, E., Hougaard, D.M., Orntoft, T., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Etain, B., Bellivier, F., Meary, A., Schurhoff, F., Szoke, A., Ribolsi, M., Magni, V., Siracusano, A., Sperling, S., Rossner, M., Christiansen, C., Kiemeney, B., Franke, B., Berg, L.H. van den, Veldink, J., Curran, S., Bolton, P., Poot, M., Staal, W., Rehnstrom, K., Kilpinen, H., Freitag, C.M., Meyer, J., Magnusson, P., Saemundsen, E., Martsenkovsky, I., Bikshaieva, I., Martsenkovska, I., Vashchenko, O., Raleva, M., Paketchieva, K., Stefanovski, B., Durmishi, N., Milovancevic, M.P., Tosevski, D.L., Silagadze, T., Naneishvili, N., Mikeladze, N., Surguladze, S., Vincent, J.B., Farmer, A., Mitchell, P.B., Wright, A., Schofield, P.R., Fullerton, J.M., Montgomery, G.W., Martin, N.G., Rubino, I.A., Winkel, R. van, Kenis, G., Hert, M. de, Rethelyi, J.M., Bitter, I., Terenius, L., Jonsson, E.G., Bakker, S., Os, J. van, Jablensky, A., Leboyer, M., Bramon, E., and et al.

Abstract

Item does not contain fulltext, Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio=1.08; P=6.6 x 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders).

Published
2014

7. Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder

Author

Vassos, E., Steinberg, S., Cichon, S., Breen, G., Sigurdsson, E., Andreassen, O.A., Djurovic, S., Morken, G., Grigoroiu-Serbanescu, M., Diaconu, C.C., Czerski, P.M., Hauser, J., Babadjanova, G., Abramova, L.I., Muhleisen, T.W., Nothen, Markus, Rietschel, M., McGuffin, P., St Clair, D., Gustafsson, O., Melle, I., Pietilainen, O.P., Ruggeri, M., Tosato, S., Werge, T., Ophoff, R.A., Consortium, G., Rujescu, D., Borglum, A.D., Mors, O., Mortensen, P.B., Demontis, D., Hollegaard, M.V., van Winkel, R., Kenis, G., De Hert, M., Rethelyi, J.M., Bitter, I., Rubino, I.A., Golimbet, V., Kiemeney, L.A., Berg, L.H. van den, Franke, B., Jonsson, E.G., Farmer, A., Stefansson, H., Stefansson, K., Collier, D.A., Vassos, E., Steinberg, S., Cichon, S., Breen, G., Sigurdsson, E., Andreassen, O.A., Djurovic, S., Morken, G., Grigoroiu-Serbanescu, M., Diaconu, C.C., Czerski, P.M., Hauser, J., Babadjanova, G., Abramova, L.I., Muhleisen, T.W., Nothen, Markus, Rietschel, M., McGuffin, P., St Clair, D., Gustafsson, O., Melle, I., Pietilainen, O.P., Ruggeri, M., Tosato, S., Werge, T., Ophoff, R.A., Consortium, G., Rujescu, D., Borglum, A.D., Mors, O., Mortensen, P.B., Demontis, D., Hollegaard, M.V., van Winkel, R., Kenis, G., De Hert, M., Rethelyi, J.M., Bitter, I., Rubino, I.A., Golimbet, V., Kiemeney, L.A., Berg, L.H. van den, Franke, B., Jonsson, E.G., Farmer, A., Stefansson, H., Stefansson, K., and Collier, D.A.

Abstract

Item does not contain fulltext, BACKGROUND: Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have been implicated in susceptibility to bipolar affective disorder (BP) through genome-wide association studies. Subsequent studies have suggested that this is also a risk locus for other psychiatric phenotypes, including major depression and schizophrenia. METHODS: To replicate the association, we studied 2562 cases with BP and 25,439 control subjects collected from seven cohorts with either genome-wide association or individual genotyping of rs2251219 and tagging single nucleotide polymorphisms across the PBRM1 gene. Results from the different case-control groups were combined with the inverse variance weighting method. RESULTS: In our dataset, rs2251219 was associated with BP (odds ratio [OR] = .89, p = .003), and meta-analysis of previously published data with our nonoverlapping new data confirmed genome-wide significant association (OR = .875, p = 2.68 x 10(-9)). Genotypic data from the SGENE-plus consortium were used to examine the association of the same variant with schizophrenia in an overall sample of 8794 cases and 25,457 control subjects, but this was not statistically significant (OR = .97, p = .21). CONCLUSIONS: There is strong evidence of association of rs2251219 with BP. However, our data do not support association of this marker with schizophrenia. Because the region of association has high linkage disequilibrium, forming a large haplotype block across many genes, it is not clear which gene is causally implicated in the disorder.

Published
2012

8. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

Author

Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., Stefansson, K., Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., and Stefansson, K.

Abstract

Contains fulltext : 97739.pdf (publisher's version ) (Closed access), Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 x 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 x 10(-9)).

Published
2011

9. Expanding the range of ZNF804A variants conferring risk of psychosis

Author

Steinberg, S., Mors, O., Borglum, A.D., Gustafsson, O., Werge, T., Mortensen, P.B., Andreassen, O.A., Sigurdsson, E., Thorgeirsson, T.E., Bottcher, Y., Olason, P., Ophoff, R.A., Cichon, S., Gudjonsdottir, I.H., Pietilainen, O.P.H., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Athanasiu, L., Suvisaari, J., Lonnqvist, J., Paunio, T., Hartmann, A., Jurgens, G., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Breuer, R., Moller, H.J., Giegling, I., Glenthoj, B., Rasmussen, H.B., Mattheisen, M., Bitter, I., Rethelyi, J.M., Sigmundsson, T., Fossdal, R., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Walshe, M., Bramon, E., Vassos, E., Li, T., Fraser, G., Walker, N., Toulopoulou, T., Yoon, J., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Peltonen, L., Rujescu, D., Collier, D.A., Stefansson, H., St Clair, D., Stefansson, K., Steinberg, S., Mors, O., Borglum, A.D., Gustafsson, O., Werge, T., Mortensen, P.B., Andreassen, O.A., Sigurdsson, E., Thorgeirsson, T.E., Bottcher, Y., Olason, P., Ophoff, R.A., Cichon, S., Gudjonsdottir, I.H., Pietilainen, O.P.H., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Athanasiu, L., Suvisaari, J., Lonnqvist, J., Paunio, T., Hartmann, A., Jurgens, G., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Breuer, R., Moller, H.J., Giegling, I., Glenthoj, B., Rasmussen, H.B., Mattheisen, M., Bitter, I., Rethelyi, J.M., Sigmundsson, T., Fossdal, R., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Walshe, M., Bramon, E., Vassos, E., Li, T., Fraser, G., Walker, N., Toulopoulou, T., Yoon, J., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Peltonen, L., Rujescu, D., Collier, D.A., Stefansson, H., St Clair, D., and Stefansson, K.

Abstract

Contains fulltext : 95884.pdf (publisher's version ) (Closed access), A trio of genome-wide association studies recently reported sequence variants at three loci to be significantly associated with schizophrenia. No sequence polymorphism had been unequivocally (P<5 x 10(-8)) associated with schizophrenia earlier. However, one variant, rs1344706[T], had come very close. This polymorphism, located in an intron of ZNF804A, was reported to associate with schizophrenia with a P-value of 1.6 x 10(-7), and with psychosis (schizophrenia plus bipolar disorder) with a P-value of 1.0 x 10(-8). In this study, using 5164 schizophrenia cases and 20,709 controls, we replicated the association with schizophrenia (odds ratio OR = 1.08, P = 0.0029) and, by adding bipolar disorder patients, we also confirmed the association with psychosis (added N = 609, OR = 1.09, P = 0.00065). Furthermore, as it has been proposed that variants such as rs1344706[T]-common and with low relative risk-may also serve to identify regions harboring less common, higher-risk susceptibility alleles, we searched ZNF804A for large copy number variants (CNVs) in 4235 psychosis patients, 1173 patients with other psychiatric disorders and 39,481 controls. We identified two CNVs including at least part of ZNF804A in psychosis patients and no ZNF804A CNVs in controls (P = 0.013 for association with psychosis). In addition, we found a ZNF804A CNV in an anxiety patient (P = 0.0016 for association with the larger set of psychiatric disorders).

Published
2011

10. Common variants conferring risk of schizophrenia.

Author

Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., Collier, D.A., Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., and Collier, D.A.

Abstract

Contains fulltext : 81575.pdf (publisher's version ) (Closed access), Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.

Published
2009

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