A novel common variant in DCST2 is associated with length in early life and height in adulthood

التفاصيل البيبلوغرافية
العنوان:	A novel common variant in DCST2 is associated with length in early life and height in adulthood
المؤلفون:	van der Valk, R. J., Kreiner-Moller, E., Kooijman, M. N., Guxens, M., Stergiakouli, E., Saaf, A., Bradfield, J. P., Geller, F., Hayes, M. G., Cousminer, D. L., Korner, A., Thiering, E., Curtin, J. A., Myhre, R., Huikari, V., Joro, R., Kerkhof, M., Warrington, N. M., Pitkanen, N., Ntalla, I., Horikoshi, M., Veijola, R., Freathy, Rachel M., Teo, Y. Y., Barton, S. J., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S. M., Davey Smith, G., Bergstrom, A., Kull, I., Hakonarson, H., Mentch, F. D., Bisgaard, H., Chawes, B., Stokholm, J., Waage, J., Eriksen, P., Sevelsted, A., Melbye, M., Early, Genetics, Lifecourse Epidemiology, Consortium, van Duijn, C. M., Medina-Gomez, C., Hofman, A., de Jongste, J. C., Taal, H. R., Uitterlinden, A. G., Genetic Investigation of, ANthropometric Traits Consortium, Armstrong, L. L., Eriksson, J., Palotie, A., Bustamante, M., Estivill, X., Gonzalez, J. R., Llop, S., Kiess, W., Mahajan, A., Flexeder, C., Tiesler, C. M., Murray, C. S., Simpson, A., Magnus, P., Sengpiel, V., Hartikainen, A. L., Keinanen-Kiukaanniemi, S., Lewin, A., Da Silva Couto Alves, A., Blakemore, A. I., Buxton, J. L., Kaakinen, M., Rodriguez, A., Sebert, S., Vaarasmaki, M., Lakka, T., Lindi, V., Gehring, U., Postma, D. S., Ang, W., Newnham, J. P., Lyytikainen, L. P., Pahkala, K., Raitakari, O. T., Panoutsopoulou, K., Zeggini, E., Boomsma, D. I., Groen-Blokhuis, M., Ilonen, J., Franke, L., Hirschhorn, J. N., Pers, T. H., Liang, L., Huang, J., Hocher, B., Knip, M., Saw, S. M., Holloway, J. W., Melen, E., Grant, S. F., Feenstra, B., Lowe, W. L., Widen, E., Sergeyev, E., Grallert, H., Custovic, A., Jacobsson, B., Jarvelin, M. R., Atalay, M., Koppelman, G. H., Pennell, C. E., Niinikoski, H., Dedoussis, G. V., McCarthy, M. I., Frayling, Timothy M., Sunyer, J., Timpson, N. J., Rivadeneira, F., Bonnelykke, K., Jaddoe, V. W., Early Growth Genetics, Consortium
بيانات النشر:	Oxford Journals
سنة النشر:	2016
المجموعة:	RD&E Research Repository (Royal Devon and Exeter NHS Foundation Trust)
الوصف:	Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height. ; This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
نوع الوثيقة:	article in journal/newspaper
اللغة:	English
تدمد:	1460-2083
العلاقة:	http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=25281659Test; Hum Mol Genet. 2015 Feb 15;24(4):1155-68.; http://hdl.handle.net/11287/593943Test; Human molecular genetics
DOI:	10.1093/hmg/ddu510
الإتاحة:	https://doi.org/10.1093/hmg/ddu510Test http://hdl.handle.net/11287/593943Test
رقم الانضمام:	edsbas.12345F20
قاعدة البيانات:	BASE

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الوصف
تدمد:	14602083
DOI:	10.1093/hmg/ddu510