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ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

Chinese medical Journal 2012年第3期125卷 476-480页

作者： Wang Hong Hetmanski, Jacqueline B. Ruczinski, Ingo Liang, Kung Yee Fallin, m. Daniele Redett, Richard J. Raymond, Gerald V. Chou, Yah-Huei Wu Chen, Philip Kuo-Ting Yeow, Vincent Chong, Samuel S. Cheah, Felicia S. H. Jabs, Ethylin Wang Scott, Alan F. Beaty, Terri H. Peking Univ Dept Epidemiol & Biostat Sch Publ Hlth Beijing 100191 Peoples R China Johns Hopkins Bloomberg Sch Publ Hlth Dept Epidemiol Baltimore MD USA Johns Hopkins Bloomberg Sch Publ Hlth Dept Biostat Baltimore MD USA Natl Yang ming Univ Dept Life Sci Taipei 112 Taiwan Natl Yang ming Univ Inst Genome Sci Taipei 112 Taiwan Johns Hopkins Univ Sch Med Dept Surg Baltimore MD 21205 USA Johns Hopkins Univ Sch Med Kennedy Krieger Inst Baltimore MD USA Johns Hopkins Univ Sch Med Dept Pediat Baltimore MD 21205 USA Johns Hopkins Univ Sch Med Dept Med Baltimore MD 21205 USA Chang Gung mem Hosp Dept Med Res Tao Yuan Taiwan Chang Gung mem Hosp Craniofacial Ctr Tao Yuan Taiwan KK Womens & Childrens Hosp Dept Plast Reconstruct & Aesthet Surg Singapore Singapore Natl Univ Singapore Dept Pediat Singapore 117548 Singapore mt Sinai Sch med New York NY USA

Background The receptor tyrosine kinase-like orphan receptor 2 （ROR2） gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in *** aim of this study was to investigate the possible association between ROR2 gene and non-syndromic oral *** Here we tested 38 eligible single-nucleotide polymorphisms （SNPs） in ROR2 gene in 297 non-syndromic cleft lip with or without cleft palate and in 82 non-syndromic cleft palate case parent trios recruited from Asia and *** Based Association Test was used to test for deviation from mendelian *** software was used to test potential parent of origin *** maternally mediated in utero effects were assessed using the TRlad multi-marker approach under an assumption of mating symmetry in the *** Significant evidence of linkage and association was shown for 3 SNPs （rs7858435,rs10820914 and rs3905385） among 57 Asian non-syndromic cleft palate trios in Family Based Association Tests.P values for these 3 SNPs equaled to 0.000068,0.000115 and 0.000464 respectively which were all less than the significance level （0.05/38=0.0013） adjusted by strict Bonferroni *** odds ratios for the risk allele were 3.42 （1.80-6.50）,3.45 （1.75-6.67） and 2.94 （1.56-5.56）,*** evidence of linkage and association was not shown for study groups other than non-syndromic cleft *** evidence for parent-of-origin nor maternal genotypic effect was shown for any of the ROR2 markers in our analysis for all study *** Our results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate.

关键词： receptor tyrosine kinase-like orphan receptor 2 cleft lip cleft palate association transmission disequilibrium test

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冠状动脉搭桥术后1年的认知功能是否会下降手术和非手术对照的比较

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世界核心医学期刊文摘(神经病学分册) 2006年第2期 42-42页

作者： mcKhann G.m. Grega m.A. Borowicz Jr. L.m. 赵天智 338 krieger Hall Johns Hopkins University 3400 North Charles Street Baltimore MD 21218 United States.Dr

Background: It is widely assumed that decline in cognition after coronary artery bypass grafting (CABG) is related to use of the cardiopulmonary bypass pump. Because most studies have not included comparable control groups, it remains unclear whether postoperative cognitive changes are specific to cardiopulmonary byp ass, general aspects of surgery, or vascular pathologies of the aging brain. met hods: This nonrandomized study included four groups: CABG patients (n = 140); of f-pump coronary surgery (n = 72); nonsurgical cardiac controls (NSCC) with diag nosed coronary artery disease but no surgery (n = 99); and heart healthy control s (HHC) with no cardiac risk factors (n = 69). Subjects were evaluated at baseli ne (preoperatively), 3 months, and 12 months. Eight cognitive domains and a glob al cognitive score, as well as depressive and subjective symptoms were analyzed. Results: At baseline, patients with coronary artery disease (CABG, off-pump, a nd NSCC) had lower performance than the HHC group in several cognitive domains. By 3 months, all groups had improved. From 3 to 12 months, there were minimal in trasubject changes for all groups. No consistent differences between the CABG an d off-pump patients were observed. Conclusions: Compared with heart healthy con trols (HHC), the groups with coronary artery disease had lower cognitive test sc ores at baseline. There was no evidence that the cognitive test performance of c oronary artery bypass grafting (CABG) patients differed from that of control gro ups with coronary artery disease over a 1-year period. This study emphasizes th e need for appropriate control groups for interpreting longitudinal changes in c ognitive performance after CABG.

关键词：认知功能 CABG 患者受试者得分非手术冠状动脉疾病

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