Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.

作者: Mariusz Kaczmarczyk , Iwona Goracy , Beata Loniewska , Anna Kuprjanowicz , Agnieszka Binczak-Kuleta

DOI: 10.1007/S00467-012-2277-7

关键词: Kidney VolumeNephronMedicineInternal medicineGeneticsBMPR1APhysiologyPolymorphism (computer science)Gene polymorphismFull TermNephrologyKidney

摘要: Background A correlation between renal mass and nephron number in newborns allows the use of total kidney volume at birth as a surrogate for congenital number. As bone morphogenetic protein type 4 (BMP4), its receptor 1A (BMPR1A, ALK3), play an important role development, we hypothesized that common, functional polymorphisms their genes might be responsible variation size among healthy individuals.

参考文章(38)
John Frederick Bertram, Rebecca Nicole Douglas-Denton, Bridgette Joy McNamara, Wendy E Hoy, Michael D Hughson, Does nephron number matter in the development of kidney disease Ethnicity & Disease. ,vol. 16, pp. 40- 45 ,(2006)
Mario Capasso, Fabrizio Ayala, Roberta Russo, Rosa Anna Avvisati, Roberta Asci, Achille Iolascon, A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. Journal of Cancer Research and Clinical Oncology. ,vol. 135, pp. 1799- 1807 ,(2009) , 10.1007/S00432-009-0628-Y
Reyhan El Kares, Daniel C. Manolescu, Lajmi Lakhal-Chaieb, Alexandre Montpetit, Zhao Zhang, Pangala V. Bhat, Paul Goodyer, A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid Kidney International. ,vol. 78, pp. 96- 102 ,(2010) , 10.1038/KI.2010.101
Gunhild Keller, Gisela Zimmer, Gerhard Mall, Eberhard Ritz, Kerstin Amann, Nephron number in patients with primary hypertension. The New England Journal of Medicine. ,vol. 348, pp. 101- 108 ,(2003) , 10.1056/NEJMOA020549
Jason E Cain, Valeria Di Giovanni, Joanna Smeeton, Norman D Rosenblum, Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment Pediatric Research. ,vol. 68, pp. 91- 98 ,(2010) , 10.1203/PDR.0B013E3181E35A88
Mario Berger, Hans H Stassen, Karola Köhler, Vera Krane, Detlev Mönks, Christoph Wanner, Katrin Hoffmann, Michael M Hoffmann, Michael Zimmer, Heike Bickeböller, Tom H Lindner, Hidden population substructures in an apparently homogeneous population bias association studies European Journal of Human Genetics. ,vol. 14, pp. 236- 244 ,(2006) , 10.1038/SJ.EJHG.5201546
B Łoniewska, J S Clark, M Kaczmarczyk, G Adler, A Biñczak-Kuleta, A Kordek, A Horodnicka-Józwa, G Dawid, J Rudnicki, A Ciechanowicz, Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10 Journal of Perinatology. ,vol. 32, pp. 230- 234 ,(2012) , 10.1038/JP.2011.85
Makoto Ikeya, Kumi Fukushima, Masako Kawada, Sachiko Onishi, Yasuhide Furuta, Shigenobu Yonemura, Toshio Kitamura, Tetsuya Nosaka, Yoshiki Sasai, Cv2, functioning as a pro-BMP factor via twisted gastrulation, is required for early development of nephron precursors Developmental Biology. ,vol. 337, pp. 405- 414 ,(2010) , 10.1016/J.YDBIO.2009.11.013
V. Di Giovanni, A. Alday, L. Chi, Y. Mishina, N. D. Rosenblum, Alk3 controls nephron number and androgen production via lineage-specific effects in intermediate mesoderm Development. ,vol. 138, pp. 2717- 2727 ,(2011) , 10.1242/DEV.059030