메뉴 건너뛰기




Volumn 514, Issue 7520, 2014, Pages 92-97

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(198)  Perry, John R B a,b,c,d   Day, Felix a   Elks, Cathy E a   Sulem, Patrick e   Thompson, Deborah J f   Ferreira, Teresa c   He, Chunyan g,h   Chasman, Daniel I i,j   Esko, Tõnu j,k,l,m   Thorleifsson, Gudmar e   Albrecht, Eva n   Ang, Wei Q o   Corre, Tanguy p,q   Cousminer, Diana L r   Feenstra, Bjarke s   Franceschini, Nora t   Ganna, Andrea u   Johnson, Andrew D v   Kjellqvist, Sanela u   Lunetta, Kathryn L v,w   more..


Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; GAMMA AMINOBUTYRIC ACID B2 RECEPTOR; RETINOIC ACID; UNCLASSIFIED DRUG; 4 AMINOBUTYRIC ACID B RECEPTOR; DLK1 PROTEIN, HUMAN; KCNK9 PROTEIN, HUMAN; MAGEL2 PROTEIN, HUMAN; MEMBRANE PROTEIN; MKRN3 PROTEIN, HUMAN; PROTEIN; RETINOIC ACID RECEPTOR; RIBONUCLEOPROTEIN; SIGNAL PEPTIDE; TANDEM PORE DOMAIN POTASSIUM CHANNEL; WDR25 PROTEIN, HUMAN;

EID: 84908024873     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature13545     Document Type: Article
Times cited : (454)

References (30)
  • 1
    • 84881181618 scopus 로고    scopus 로고
    • Pubertal timing and adult obesity and cardiometabolic risk in women and men: A systematic review and meta-analysis
    • Prentice, P. & Viner, R. M. Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis. Int. J. Obes. 37, 1036-1043 (2013).
    • (2013) Int. J. Obes. , vol.37 , pp. 1036-1043
    • Prentice, P.1    Viner, R.M.2
  • 2
    • 84877714923 scopus 로고    scopus 로고
    • Approach to the patient with hypogonadotropic hypogonadism
    • Silveira, L. F. G. & Latronico, A. C. Approach to the patient with hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 98, 1781-1788 (2013).
    • (2013) J. Clin. Endocrinol. Metab. , vol.98 , pp. 1781-1788
    • Silveira, L.F.G.1    Latronico, A.C.2
  • 3
    • 84879344554 scopus 로고    scopus 로고
    • Central precocious puberty caused bymutations in the imprinted gene MKRN3
    • Abreu, A. P. et al. Central precocious puberty caused bymutations in the imprinted gene MKRN3. N. Engl. J. Med. 368, 2467-2475 (2013).
    • (2013) N. Engl. J. Med. , vol.368 , pp. 2467-2475
    • Abreu, A.P.1
  • 4
    • 84947899470 scopus 로고    scopus 로고
    • Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
    • Elks, C. E. et al. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nature Genet. 42, 1077-1085 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 1077-1085
    • Elks, C.E.1
  • 5
    • 84862832570 scopus 로고    scopus 로고
    • Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
    • Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature Genet. 44, 369-375 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 369-375
    • Yang, J.1
  • 6
    • 72449122779 scopus 로고    scopus 로고
    • Parental origin of sequence variants associated with complex diseases
    • Kong, A. et al. Parental origin of sequence variants associated with complex diseases. Nature 462, 868-874 (2009).
    • (2009) Nature , vol.462 , pp. 868-874
    • Kong, A.1
  • 8
    • 35348901901 scopus 로고    scopus 로고
    • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    • Temple, I. K., Shrubb, V., Lever, M., Bullman, H. & Mackay, D. J. G. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J. Med. Genet. 44, 637-640 (2007).
    • (2007) J. Med. Genet. , vol.44 , pp. 637-640
    • Temple, I.K.1    Shrubb, V.2    Lever, M.3    Bullman, H.4    Mackay, D.J.G.5
  • 9
    • 84890172667 scopus 로고    scopus 로고
    • Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements
    • corrected 93, 1158 (2013)
    • Grundberg, E. et al. Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am. J. Hum. Genet. 93, 876-890 (2013), corrected 93, 1158 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 876-890
    • Grundberg, E.1
  • 10
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra, H.-J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genet. 45, 1238-1243 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 1238-1243
    • Westra, H.-J.1
  • 11
    • 84887081901 scopus 로고    scopus 로고
    • Truncatingmutations of MAGEL2 cause Prader-Willi phenotypes and autism
    • Schaaf, C. P. et al. Truncatingmutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genet. 45, 1405-1408 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 1405-1408
    • Schaaf, C.P.1
  • 12
    • 35448978427 scopus 로고    scopus 로고
    • Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassiumchannel gene in mouse and human
    • Ruf, N. et al. Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassiumchannel gene in mouse and human. Hum. Mol. Genet. 16, 2591-2599 (2007).
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 2591-2599
    • Ruf, N.1
  • 13
    • 84901638082 scopus 로고    scopus 로고
    • The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome
    • Stelzer, Y., Sagi, I., Yanuka, O., Eiges, R. & Benvenisty, N. The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome. Nature Genet. 46, 551-557 (2014).
    • (2014) Nature Genet. , vol.46 , pp. 551-557
    • Stelzer, Y.1    Sagi, I.2    Yanuka, O.3    Eiges, R.4    Benvenisty, N.5
  • 14
    • 84875896284 scopus 로고    scopus 로고
    • Epigenetic control of female puberty
    • Lomniczi, A. et al. Epigenetic control of female puberty. Nature Neurosci. 16, 281-289 (2013).
    • (2013) Nature Neurosci. , vol.16 , pp. 281-289
    • Lomniczi, A.1
  • 15
    • 0036734272 scopus 로고    scopus 로고
    • Central precocious puberty in girls with Williams syndrome
    • Partsch, C.-J. et al. Central precocious puberty in girls with Williams syndrome. J. Pediatr. 141, 441-444 (2002).
    • (2002) J. Pediatr. , vol.141 , pp. 441-444
    • Partsch, C.-J.1
  • 16
    • 81155161803 scopus 로고    scopus 로고
    • Early onset of primary hypogonadismrevealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21
    • Grinspon, R. P. et al. Early onset of primary hypogonadismrevealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21. Int. J. Androl. 34, e487-e498 (2011).
    • (2011) Int. J. Androl. , vol.34 , pp. e487-e498
    • Grinspon, R.P.1
  • 17
    • 0035809810 scopus 로고    scopus 로고
    • 9-cis-Retinoic acid represses transcription of the gonadotropin-releasing hormone (GnRH) gene via proximal promoter region that is distinct from all-trans-retinoic acid response element
    • Cho, S. et al. 9-cis-Retinoic acid represses transcription of the gonadotropin-releasing hormone (GnRH) gene via proximal promoter region that is distinct from all-trans-retinoic acid response element. Brain Res. Mol. Brain Res. 87, 214-222 (2001).
    • (2001) Brain Res. Mol. Brain Res. , vol.87 , pp. 214-222
    • Cho, S.1
  • 18
    • 70449659453 scopus 로고    scopus 로고
    • Retinoic acid-induced nNOS expression depends on a novel PI3K/Akt/DAX1 pathway in human TGW-nu-I neuroblastoma cells
    • Nagl, F. et al. Retinoic acid-induced nNOS expression depends on a novel PI3K/Akt/DAX1 pathway in human TGW-nu-I neuroblastoma cells. Am. J. Physiol. Cell Physiol. 297, C1146-C1156 (2009).
    • (2009) Am. J. Physiol. Cell Physiol. , vol.297 , pp. C1146-C1156
    • Nagl, F.1
  • 19
    • 2942729569 scopus 로고    scopus 로고
    • Vitamin A and iron supplementation is as efficient as hormonal therapy in constitutionally delayed children
    • Zadik, Z., Sinai, T., Zung, A. & Reifen, R. Vitamin A and iron supplementation is as efficient as hormonal therapy in constitutionally delayed children. Clin. Endocrinol. 60, 682-687 (2004).
    • (2004) Clin. Endocrinol. , vol.60 , pp. 682-687
    • Zadik, Z.1    Sinai, T.2    Zung, A.3    Reifen, R.4
  • 20
    • 84864387136 scopus 로고    scopus 로고
    • GnRH neuron firing and response to GABA in vitro depend on acute brain slice thickness and orientation
    • Constantin, S. et al. GnRH neuron firing and response to GABA in vitro depend on acute brain slice thickness and orientation. Endocrinology 153, 3758-3769 (2012).
    • (2012) Endocrinology , vol.153 , pp. 3758-3769
    • Constantin, S.1
  • 21
    • 78049337953 scopus 로고    scopus 로고
    • Association analyses of 249,796 individuals reveal 18 newloci associated with body mass index
    • Speliotes, E. K. et al. Association analyses of 249,796 individuals reveal 18 newloci associated with body mass index. Nature Genet. 42, 937-948 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 937-948
    • Speliotes, E.K.1
  • 22
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1
  • 23
    • 84871987100 scopus 로고    scopus 로고
    • New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
    • Horikoshi, M. et al. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genet. 45, 76-82 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 76-82
    • Horikoshi, M.1
  • 25
    • 67349199566 scopus 로고    scopus 로고
    • Genome-wide association study andmeta-analysis find that over 40 loci affect risk of type 1 diabetes
    • Barrett, J. C. et al. Genome-wide association study andmeta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature Genet. 41, 703-707 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 703-707
    • Barrett, J.C.1
  • 26
    • 61349163553 scopus 로고    scopus 로고
    • Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
    • Zheng, W. et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nature Genet. 41, 324-328 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 324-328
    • Zheng, W.1
  • 27
    • 84860331458 scopus 로고    scopus 로고
    • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
    • Estrada, K. et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genet. 44, 491-501 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 491-501
    • Estrada, K.1
  • 28
    • 84893786954 scopus 로고    scopus 로고
    • Menarche,menopause, years ofmenstruation, and the incidence of osteoporosis: The influence of prenatal exposure to diethylstilbestrol
    • Parker, S. E. et al. Menarche,menopause, years ofmenstruation, and the incidence of osteoporosis: the influence of prenatal exposure to diethylstilbestrol. J. Clin. Endocrinol. Metab. 99, 594-601 (2014).
    • (2014) J. Clin. Endocrinol. Metab. , vol.99 , pp. 594-601
    • Parker, S.E.1
  • 29
    • 84870738355 scopus 로고    scopus 로고
    • Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation
    • Huang, J. et al. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. Blood 120, 4873-4881 (2012).
    • (2012) Blood , vol.120 , pp. 4873-4881
    • Huang, J.1
  • 30
    • 38049161801 scopus 로고    scopus 로고
    • Life history trade-offs explain the evolution of human pygmies
    • Migliano, A. B., Vinicius, L.& Lahr, M. M. Life history trade-offs explain the evolution of human pygmies. Proc. Natl Acad. Sci. USA 104, 20216-20219 (2007).
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 20216-20219
    • Migliano, A.B.1    Vinicius, L.2    Lahr, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.