Association of maternally inherited GNAS alleles with African-American male birth weight.
Association of maternally inherited GNAS alleles with African-American male birth weight.
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DOI：
10.3109/17477160903111714
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发表时间：
2010-04
期刊：
影响因子：
--
通讯作者：
Somes G
中科院分区：
文献类型：
--
作者：
Adkins RM;Krushkal J;Magann EF;Klauser CK;Morrison JC;Ramsey R;Somes G
人类出生体重变异具有重要的遗传成分和重要的临床后果。我们对14个候选基因的单核苷酸多态性（SNPs）进行了调查，以确定与出生体重变化的关系。对221对健康的非裔美国母亲-新生儿进行了SNP变异调查。基因的选择基于先前与肥胖相关性状的关联，低出生体重妊娠中循环蛋白水平的显著差异，或与模式生物中新生儿大小或人类生长障碍的关联。通过调整显著协变量的多元线性回归检验相关性。在显性模型下，ENPPI的SNP rs7754561与出生体重显著相关。在印迹位点中，GNAS SNP rs6026576的母系基因型与出生体重显著相关（加性模型和显性模型）。这种联系仅限于雄性后代。区分父系和母系等位基因的分析表明，只有母系遗传的等位基因与出生体重有关，而且这种关联仅限于男性新生儿。GNAS的母系遗传等位基因的影响可能是GNAS基因的复杂剪接和印迹模式的结果，尽管这种影响仅在男性新生儿中观察到的原因尚不清楚。
Human birth weight variation has a significant genetic component and important clinical consequences. We performed a survey of single nucleotide polymorphisms (SNPs) in 14 candidate genes to identify associations with birth weight variation. SNP variation was surveyed in 221 healthy African–American mother-newborn pairs. Genes were selected based on previous association with obesity-related traits, significant differences in circulating protein levels in low birth weight pregnancies or association with newborn size in model organisms or growth disorders in humans. Association was tested via multiple linear regression with adjustment for significant covariables. Under a dominant model SNP rs7754561 of ENPPI was significantly associated with birth weight. Among imprinted loci, maternal genotypes for SNP rs6026576 of GNAS were significantly associated with birth weight (additive and dominant models). This association was restricted to male offspring. Analyses that distinguished between alleles of paternal and maternal origin demonstrated that only maternally-transmitted alleles were associated with birth weight and that this association was restricted to male newborns. The effect of only maternally-transmitted alleles of GNAS may be a consequence of the complex splicing and imprinting pattern of the GNAS gene, although the reason this effect is observed only among male newborns is unclear.
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影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
影响因子：
5.8
作者：
Boettcher, Yvonne;Koerner, Antje;Kovacs, Peter
通讯作者：
Kovacs, Peter
DOI：
10.1073/pnas.0408268102
发表时间：
2005-05-17
影响因子：
11.1
作者：
Chen, M;Gavrilova, O;Weinstein, LS
通讯作者：
Weinstein, LS
DOI：
10.1073/pnas.1532175100
发表时间：
2003-07-08
影响因子：
11.1
作者：
Charalambous, M;Smith, FM;Ward, A
通讯作者：
Ward, A
影响因子：
5.8
作者：
Germain-Lee, EL;Groman, J;Levine, MA
通讯作者：
Levine, MA