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Parental origin of sequence variants associated with complex diseases

التفاصيل البيبلوغرافية
العنوان: Parental origin of sequence variants associated with complex diseases
المؤلفون: Voight, B.F., Raychaudhuri, S., Purcell, S., McCarroll, S.A., Segrè, A.V., Ardlie, K., Burtt, N.P., Crawford, G., Elliott, A.L., Green, T., Guiducci, C., Saxena, R., Daly, M.J., Florez, J.C., Altshuler, D., Meigs, J.B., Scott, L.J., Welch, R.P., Willer, C.J., Ganser, M., Jackson, A.U., Stringham, H.M., Abecasis, G.R., Boehnke, M., Steinthorsdottir, V., Thorleifsson, G., Kong, A., Walters, G.B., Thorsteinsdottir, U., Stefansson, K., Dina, C., Proença, C., Cauchi, S., Froguel, P., Zeggini, E., Bumpstead, S., Payne, F., Smith, N., Barroso, I., Ferreira, T., Elliott, K.S., Lindgren, C.M., Prokopenko, I., Rayner, N.W., Robertson, N.R., Morris, A.P., McCarthy, M.I., Huth, C., Grallert, H., Gieger, C., Klopp, N., Meitinger, T., Petersen, A.-K., Thorand, B., Wichmann, H.-E., Illig, T., Aulchenko, Y.S., Amin, N., Witteman, J., Hofman, A., Van Duijn, C.M., McCulloch, L.J., Bennett, A.J., Groves, C.J., Hassanali, N., Owen, K.R., Gloyn, A.L., Wu, G., Stein, L.D., Langenberg, C., Griffin, S., Wareham, N.J., Hoffmann, O.M., Hide, W.A., Dupuis, J., Qi, L., Kraft, P., Sun, Q., Hunter, D., Hu, F.B., Cornelis, M., VanDam, R., Van Hoek, M., Van Herpt, T., Sijbrands, E., Uitterlinden, A., Navarro, P., Balkau, B., Benediktsson, R., Sigurdsson, G., Blagieva, R., Boehm, B.O., Boerwinkle, E., Bonnycastle, L.L., Chines, P.S., Erdos, M.R., Morken, M.A., Narisu, N., Swift, A.J., Boström, K.B., Bravenboer, B., Charpentier, G., Couper, D.J., Doney, A.S.F., Morris, A.D., Palmer, C.N.A., Fox, C.S., Franklin, C.S., Rudan, I., Grarup, N., Hadjadj, S., Thomas Sparsø, [No Value], Campbell, H., Wilson, J.F., Hansen, T., Pedersen, O., Herder, C., Roden, M., Isomaa, B., Tuomi, T., Johnson, P.R.V., Jørgensen, T., Kao, W.H.L., Kuusisto, J., Laakso, M., Lauritzen, T., Li, M., Lieverse, A., Lyssenko, V., Nilsson, P., Groop, L., Marre, M., Midthjell, K., Platou, C., Hveem, K., Perry, J.R.B., Shields, B.M., Weedon, M.N., Frayling, T.M., Hattersley, A.T., Rathmann, W., Strassburger, K., Rocheleau, G., Sladek, R., Sampson, M.J., Shrader, P., Tichet, J., Bergman, R.N., Collins, F.S., Gyllensten, U., Hitman, G.A., Mohlke, K.L., Pramstaller, P.P., Tuomilehto, J., Walker, M., Watanabe, R.M., Pankow, J.S.
المساهمون: deCODE genetics, Sturlugata 8, 101 Reykjavík, Iceland. kong@decode.is
المصدر: Voight, B F, Raychaudhuri, S, Purcell, S, McCarroll, S A, Segrè, A V, Ardlie, K, Burtt, N P, Crawford, G, Elliott, A L, Green, T, Guiducci, C, Saxena, R, Daly, M J, Florez, J C, Altshuler, D, Meigs, J B, Scott, L J, Welch, R P, Willer, C J, Ganser, M, Jackson, A U, Stringham, H M, Abecasis, G R, Boehnke, M, Steinthorsdottir, V, Thorleifsson, G, Kong, A, Walters, G B, Thorsteinsdottir, U, Stefansson, K, Dina, C, Proença, C, Cauchi, S, Froguel, P, Zeggini, E, Bumpstead, S, Payne, F, Smith, N, Barroso, I, Ferreira, T, Elliott, K S, Lindgren, C M, Prokopenko, I, Rayner, N W, Robertson, N R, Morris, A P, McCarthy, M I, Huth, C, Grallert, H, Gieger, C, Klopp, N, Meitinger, T, Petersen, A-K, Thorand, B, Wichmann, H-E, Illig, T, Aulchenko, Y S, Amin, N, Witteman, J, Hofman, A, Van Duijn, C M, McCulloch, L J, Bennett, A J, Groves, C J, Hassanali, N, Owen, K R, Gloyn, A L, Wu, G, Stein, L D, Langenberg, C, Griffin, S, Wareham, N J, Hoffmann, O M, Hide, W A, Dupuis, J, Qi, L, Kraft, P, Sun, Q, Hunter, D, Hu, F B, Cornelis, M, VanDam, R, Van Hoek, M, Van Herpt, T, Sijbrands, E, Uitterlinden, A, Navarro, P, Balkau, B, Benediktsson, R, Sigurdsson, G, Blagieva, R, Boehm, B O, Boerwinkle, E, Bonnycastle, L L, Chines, P S, Erdos, M R, Morken, M A, Narisu, N, Swift, A J, Boström, K B, Bravenboer, B, Charpentier, G, Couper, D J, Doney, A S F, Morris, A D, Palmer, C N A, Fox, C S, Franklin, C S, Rudan, I, Grarup, N, Hadjadj, S, Thomas Sparsø, N V, Campbell, H, Wilson, J F, Hansen, T, Pedersen, O, Herder, C, Roden, M, Isomaa, B, Tuomi, T, Johnson, P R V, Jørgensen, T, Kao, W H L, Kuusisto, J, Laakso, M, Lauritzen, T, Li, M, Lieverse, A, Lyssenko, V, Nilsson, P, Groop, L, Marre, M, Midthjell, K, Platou, C, Hveem, K, Perry, J R B, Shields, B M, Weedon, M N, Frayling, T M, Hattersley, A T, Rathmann, W, Strassburger, K, Rocheleau, G, Sladek, R, Sampson, M J, Shrader, P, Tichet, J, Bergman, R N, Collins, F S, Gyllensten, U, Hitman, G A, Mohlke, K L, Pramstaller, P P, Tuomilehto, J, Walker, M, Watanabe, R M & Pankow, J S 2009, ' Parental origin of sequence variants associated with complex diseases ', Nature, vol. 462, no. 7275, pp. 868-874 . https://doi.org/10.1038/nature08625Test
Kong, A, Steinthorsdottir, V, Masson, G, Thorleifsson, G, Sulem, P, Besenbacher, S, Jonasdottir, A, Sigurdsson, A, Kristinsson, K T, Jonasdottir, A, Frigge, M L, Gylfason, A, Olason, P I, Gudjonsson, S A, Sverrisson, S, Stacey, S N, Sigurgeirsson, B, Benediktsdottir, K R, Sigurdsson, H, Jonsson, T, Benediktsson, R, Olafsson, J H, Johannsson, O T, Hreidarsson, A B, Sigurdsson, G, Ferguson-Smith, A C, Gudbjartsson, D F, Thorsteinsdottir, U, Stefansson, K, DIAGRAM Consortium & Lauritzen, T 2009, ' Parental origin of sequence variants associated with complex diseases ', Nature, vol. 462, no. 7275, pp. 868-74 . https://doi.org/10.1038/nature08625Test
بيانات النشر: Springer Science and Business Media LLC, 2009.
سنة النشر: 2009
مصطلحات موضوعية: Male, CCCTC-Binding Factor, Iceland, Mothers, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Fathers, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Humans, SNP, Genetic Predisposition to Disease, Allele, Alleles, 030304 developmental biology, Genetics, 0303 health sciences, Binding Sites, Multidisciplinary, Genome, Human, Chromosomes, Human, Pair 11, Haplotype, DNA Methylation, Pedigree, Repressor Proteins, Diabetes Mellitus, Type 2, Haplotypes, Carcinoma, Basal Cell, DNA methylation, Female, Human genome, Genomic imprinting, Chromosomes, Human, Pair 7, 030217 neurology & neurosurgery
الوصف: To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five-one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes-have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site. info:eu-repo/grantAgreement/EC/FP7/218071
وصف الملف: application/pdf
تدمد: 1476-4687
0028-0836
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ee993f588db0ccf994f440b0047a51Test
https://doi.org/10.1038/nature08625Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....53ee993f588db0ccf994f440b0047a51
قاعدة البيانات: OpenAIRE
الوصف
تدمد:14764687
00280836