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81.
Macgregor S Montgomery GW Liu JZ Zhao ZZ Henders AK Stark M Schmid H Holland EA Duffy DL Zhang M Painter JN Nyholt DR Maskiell JA Jetann J Ferguson M Cust AE Jenkins MA Whiteman DC Olsson H Puig S Bianchi-Scarrà G Hansson J Demenais F Landi MT Dębniak T Mackie R Azizi E Bressac-de Paillerets B Goldstein AM Kanetsky PA Gruis NA Elder DE Newton-Bishop JA Bishop DT Iles MM Helsing P Amos CI Wei Q Wang LE Lee JE Qureshi AA Kefford RF Giles GG Armstrong BK Aitken JF Han J Hopper JL Trent JM Brown KM 《Nature genetics》2011,43(11):1114-1118
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density. 相似文献
82.
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease 总被引:1,自引:0,他引:1
Naj AC Jun G Beecham GW Wang LS Vardarajan BN Buros J Gallins PJ Buxbaum JD Jarvik GP Crane PK Larson EB Bird TD Boeve BF Graff-Radford NR De Jager PL Evans D Schneider JA Carrasquillo MM Ertekin-Taner N Younkin SG Cruchaga C Kauwe JS Nowotny P Kramer P Hardy J Huentelman MJ Myers AJ Barmada MM Demirci FY Baldwin CT Green RC Rogaeva E St George-Hyslop P Arnold SE Barber R Beach T Bigio EH Bowen JD Boxer A Burke JR Cairns NJ Carlson CS Carney RM Carroll SL Chui HC Clark DG Corneveaux J Cotman CW 《Nature genetics》2011,43(5):436-441
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and 3, P(M) = 6.0 × 10(-10)) and CD33 (rs3865444; stages 1, 2 and 3, P(M) = 1.6 × 10(-9)). We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility. 相似文献
83.
采用2011年和2014年各两周的上海移动手机信令数据,通过跟踪分析识别出居住地、就业地发生变迁的居民作为研究对象,数据可视化、描述性统计、定量对比分析等方法对同一批变迁居民的通勤行为进行跟踪研究,以此对其中存在的“自平衡”特征进行分析,并进一步研究该变化特征与城市空间之间所存在的联系。研究表明:总体层面,从平均通勤距离变化以及过剩通勤率变化方面来看,居民在进行居住地、就业地变迁时均存在通勤“自平衡”的特征与趋势;个体层面,原通勤距离越远,通过居住地、就业地变迁以改善自身通勤关系追求通勤“自平衡”的效果越明显;就业地变迁居民的通勤“自平衡”特征相较于居住地变迁来说更加显著;空间集合层面,职住关系较差的居住区、就业区,存在总体的“自平衡”现象。 相似文献
84.
1 Results The enantioselective addition of allylic organometallic reagents to aldehydes is a fundamental tool in organic synthesis.The high degree of both diastereo-and enantioselectivity gives the possibility to obtain a wide series of homoallylic alcohols,versatile intermediates in a great number of synthesis[1]. One of the most successful approaches is related to the discovery that organocatalytic activation of the nucleophilic allyltrichlorosilanes by means of neutral Lewis bases,such as formamides,... 相似文献
85.
矿区植物--环境恢复的重要资源 总被引:2,自引:0,他引:2
综述了矿区植物的研究现状矿区植物的生态学、遗传学、植物分类学特性,矿区植物对重金属的耐性与吸收性,矿区植物在矿山及污染环境修复中的功能与作用;最后,探讨了矿区植物资源研究的未来发展方向。 相似文献
86.
87.
An inflammatory drug prospect. 总被引:2,自引:0,他引:2
88.
本文主要梳理国内外学者对盈余管理的理论研究,从对其概念的差异,到存在的原因,盈余管理的目的、方式,及其盈余管理的利弊都做了全面的回顾与探讨,以期为从事盈余管理理论与实证研究的学者提供价值参考。 相似文献
89.
Angela M. Ortega-León Maricela Villagrán-Santa Cruz J. Jamie Zú?iga-Vega Raúl Cueva-del Castillo Fausto R. Méndez-de la Cruz 《西北部美国博物学家》2011,69(1)
Asynchronous reproduction is a common phenomenon in high-elevation populations of lizards from Central México. Sperm storage in the reproductive tract of females is the mechanism for making oocyte fertilization possible. Our study addresses questions related to functional oviductal sperm storage of females mating on different dates throughout the reproductive season. A population of Sceloporus mucronatus with copulation in the summer and ovulation in the fall was chosen for this experiment. Eleven females that copulated in the field during June and 13 females that copulated in captivity during August were maintained in the laboratory until parturition. The number of pregnant females and the litter sizes produced in each experimental group were indicative of the viability of the stored sperm. Sperm stored in the reproductive tract of females were able to fertilize eggs after 4 months. No significant differences were found in the number of pregnant females between the 2 experimental groups nor in the litter sizes that they produced. We found that the amount of time sperm were held in the female reproductive tract (ca. 3 months) had no effect on the capacity of sperm to fertilize eggs. Histological examination of 8 oviducts collected before the mating season eliminated the possibility of sperm storage from one year to the next. In this system, sperm retention could have evolved as a response mechanism to deal with the asynchrony between sexes in the reproductive cycles. However, we cannot rule out alternative hypotheses. 相似文献
90.
ZeHong Zou Ying He Lin Ruan BaoQing Sun HuiFang Chen De Chen ShiMing Liu XiaoGuang Yang AiLin Tao 《科学通报(英文版)》2012,57(15):1824-1832
The potential of genetically modified organisms(GMOs) to increase allergenicity or predispositions to allergies has attracted much attention.An approach that will properly and holistically evaluate the allergenicity of GMOs is yet to be found.Here,85 transgenes that have been reported in both international and domestic studies during recent years are summarized case by case;49 of the transformed genes were from plant sources and 36 were from animal sources.EVALLERTM,a web server for the in silico assessment of potential protein allergenicity,was used to evaluate the potential of the transgenic proteins as allergens.The biomedical journals listed in Highwire(http://highwire.stanford.edu/) were searched and reviewed to decipher whether any of the transformed genes were linked to allergenicity or human health.The EVALLER analysis identified 5 allergenic genes,whilst our literature review found 11 genes that were either related to allergic cases or to clinical adverse events;all 16 of these genes have been used in GMOs.The analysis pathway that we have developed can help guide the selection of genes to be used in genetic modification.The pathway also provides a paradigm for allergenicity analysis of transgene candidates. 相似文献