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Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2005年第2期13卷 248-252页

作者： Jia, WH Collins, A Zeng, YX Feng, BJ Yu, XJ Huang, LX Feng, QS Huang, P Yao, MH Shugart, YY Sun Yat Sen Univ Ctr Canc Dept Expt Res Key Lab Minist Educ Guangzhou 510060 Peoples R China Univ Southampton Southampton Gen Hosp Southampton SO9 5NH Hants England Sun Yat Sen Univ Ctr Canc Dept Informat Key Lab Minist Educ Guangzhou 510060 Peoples R China Johns Hopkins Univ Bloomberg Sch Publ Hlth Dept Epidemiol Baltimore MD 21218 USA

The striking geographical and ethnic distribution of nasopharyngeal carcinoma (NPC) suggests the involvement of genetic and environmental factors in NPC development. The purpose of this study is to investigate the fit of single gene, polygenic and multifactorial models to the observed pattern of transmission of NPC in a hospital-based family history study conducted by the Cancer Center of Sun Yat-Sen University (CCSYU) in Guangzhou, China. Complex segregation analysis of a total of 1903 Cantonese pedigrees ascertained at CCSYU was conducted using a unified mixed model after the pedigrees were partitioned into 3737 nuclear families. The mixed model assumes that a phenotype is influenced by the additive and independent effect of a major gene, together with multifactorial components ( genetic and environmental) and a random environmental effect. The current results do not provide evidence for a major gene and the observed data are best explained by a multifactorial mode of inheritance for NPC.

关键词： nasopharyngeal carcinoma (NPC) complex segregation analysis mode of inheritance multifactorial model

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Robust quantitative trait association tests in the parent-offspring triad design: Conditional likelihood-based approaches

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Annals of Human Genetics 2009年第2期73卷 231-244页

作者： Wang, J.-Y. Tai, John J. Department of Healthcare Administration Asia University Taichung 41354 Taiwan Division of Biostatistics College of Public Health National Taiwan University Taipei 10055 Xu-Zhou Road Taiwan

Association studies, based on either population data or familial data, have been widely applied to mapping of genes underlying complex diseases. In family-based association studies, using case-parent triad families, the popularly used transmission/disequilibrium test (TDT) was proposed for avoidance of spurious association results caused by other confounders such as population stratification. Originally, the TDT was developed for analysis of binary disease data. Extending it to allow for quantitative trait analysis of complex diseases and for robust analysis of binary diseases against the uncertainty of mode of inheritance has been thoroughly discussed. Nevertheless, studies on robust analysis of quantitative traits for complex diseases received relatively less attention. In this paper, we use parent-offspring triad families to demonstrate the feasibility of establishment of the robust candidate-gene association tests for quantitative traits. We first introduce the score statistics from the conditional likelihoods based on parent-offspring triad data under various genetic models. By applying two existing robust procedures we then construct the robust association tests for analysis of quantitative traits. Simulations are conducted to evaluate empirical type I error rates and powers of the proposed robust tests. The results show that these robust association tests do exhibit robustness against the effect of misspecification of the underlying genetic model on testing powers. © Journal compilation © 2009 Blackwell Publishing Ltd/University College London.

关键词： Candidate-gene Exponential family Family-based association test mode of inheritance Score test

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Genetic Association Between α-Synuclein and Idiopathic Parkinson's Disease

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AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2008年第7期147B卷 1222-1230页

作者： Kay, Denise M. Factor, Stewart A. Samii, Ali Higgins, Donald S. Griffith, Alida Roberts, John W. Leis, Berta C. Nutt, John G. Montimurro, Jennifer S. Keefe, Robert G. Atkins, April J. Yearout, Dora Zabetian, Cyrus P. Payami, Haydeh New York State Dept Hlth Wadsworth Ctr Div Genet Disorders Albany NY 12208 USA Albany Med Ctr Parkinsons Dis & Movement Disorder Clin Albany NY USA Emory Univ Sch Med Dept Neurol Atlanta GA 30322 USA VA Puget Sound Hlth Care Syst Parkinsons Dis Res Educ & Clin Ctr Seattle WA USA Univ Washington Sch Med Dept Neurol Seattle WA USA Evergreen Hosp Med Ctr Booth Gardner Parkinsons Care Ctr Kirkland WA USA Virginia Mason Med Ctr Seattle WA 98101 USA Oregon Hlth & Sci Univ Dept Neurol Portland OR 97201 USA VA Puget Sound Hlth Care Syst Geriatr Res Educ & Clin Ctr Seattle WA USA

Point mutations and copy number variations in SNCA, the gene encoding a-synuclein, cause familial Parkinson's disease (PD). A dinucleotide polymorphism. (REPI.) in the SNCA promoter may be a risk factor for common forms of PD. We studied 1,802 PD patients and 2,129 controls from the NeuroGenetics Research Consortium, using uniform, standardized protocols for diagnosis, subject recruitment, data collection, genotyping, and data analysis. Three common REP1 alleles (257, 259, and 261 bp, with control frequencies of 0.28, 0.65, and 0.06) and several rare alleles (combined frequency <0.01) were detected. We confirmed association of REP1 with PD risk [odds ratio (OR)=0.86, P=0.006 for 257-carriers;OR=1.25, P=0.022 for 261-carriers]. Using a normalization procedure, we showed that the 257 and 261 alleles are both independently associated with PD risk (for 257, P=0.002 in overall data, 0.003 in non-familial PD, 0.001 in early-onset PD;for 261, P=0.056 in overall data, 0.024 in non-familial PD, 0.052 in early-onset PD). The 257-associated risk was consistent with a dominant model [hazard ratio (HR)=0.99, P=0.91 for 257/257 vs. 257/X where X denotes all other common alleles;HR=1.16, P=0.004 for X/X vs. 257/X]. The 261-associated risk was consistent with a recessive model (HR=1.89, P=0.026 for 261/261 vs. 261/X;HR=0.95, P=0.42 for X/X vs. 261/X). Genotype-specific mean onset ages (+/- SD) ranged from 54.8 +/- 12.1 for 261/261 to 59.4 +/- 11.5 for 257/257, displaying a trend of decreasing onset age with increasing allele size (P=0.055). Genetic variation in SNCA and its regulatory regions play an important role in both familial and sporadic PD. (C) 2008 Wiley-Liss, Inc.

关键词： REP1 risk age at onset relative predispositional effects mode of inheritance

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Maximizing association statistics over genetic models

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GENETIC EPIDEMIOLOGY 2008年第3期32卷 246-254页

作者： Gonzalez, Juan R. Carrasco, Josep L. Dudbridge, Frank Armengol, Lluis Estivill, Xavier Moreno, Victor Ctr Res Environm Epidemiol Barcelona 08003 Spain Univ Barcelona Dept Publ Hlth Biostat Unit E-08007 Barcelona Spain MRC Biostat Unit Cambridge CB2 2BW England Ctr Genom Regulat Genes & Dis Program Barcelona Spain Catalan Inst Oncol IDIBELL Barcelona Spain

The assessment of the association between a candidate locus and a disease may require the assumption of an inheritance model. Most researchers select the additive model and test the association with the Cochran-Armitage trend test. This test assumes a dose-response effect with regard to the number of copies of the variant allele. However, if there is reason to expect dominance or recessiveness in the effect of the variant allele, the heterozygous genotype may be grouped with one of the two homozygous, depending on the inheritance model, and a simple test on the 2 x 2 table can be used to assess independence. When the underlying genetic model is unknown, association may be assessed using the max-statistic, which selects the largest test statistic from the dominant, recessive and additive models. The statistical significance of the max-statistic has been previously addressed using permutation or Monte Carlo simulation approaches. We aimed to provide simpler alternatives to the max-test to make it feasible in large-scale association studies. Our simulations show that this procedure has an effective number of tests of 2.2, which can be used to correct the significance level or P-values. We also derive the asymptotic distribution of max-statistic, which leads to a simple way to calculate the significance level and allows the derivation of a formula for power calculations in the design of studies that plan to use the max-statistic. A simulation study shows that the use of the max-statistic is a powerful approach that provides safeguard against model uncertainty.

关键词： genetic models max-statistic mode of inheritance power

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Diallel analysis of floral morphology in radish (Raphanus sativus L.)

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EUPHYTICA 2007年第1-2期158卷 153-165页

作者： Kobayashi, Kiwa Horisaki, Atsushi Niikura, Satoshi Ohsawa, Ryo Univ Tsukuba Grad Sch Life & Environm Sci Tsukuba Ibaraki 305 Japan Tohoku Seed Co Utsunomiya Tochigi 321 Japan

We made a 5 x 5 diallel set of crosses between five inbred lines, four Japanese and one Chinese, and diallel analyses of radish floral morphology were conducted to estimate the genetic parameters underlying 13 floral traits. The modes of inheritance of 12 traits (but not anther length on the long stamen) followed the additive-dominance model. Broad-sense heritabilities of the 12 traits were 0.93-0.99, suggesting that floral morphology is highly heritable. But narrow-sense heritabilities differed among traits, ranging from 0.34 to 0.89. Pistil and stamen heights, tube length, and stigma position were explained mainly by additive effects, but anther, stigma, petal, and whole flower sizes were affected greatly by dominance effects as well as by additive effects. The correlations between the 13 traits suggested that some floral traits (e.g. stigma size and position) are more or less independent, indicating the possibility of creating lines with new floral morphologies by selecting for these genetically independent traits. A flower with a larger and higher stigma might improve the production of cross-pollinated seeds through enhancement of pollination efficiency. In that case, by selecting for stigma position in an early segregating generation and for stigma size in a later generation, it should be possible to produce new parental lines with effective floral morphology for F-1 seed production.

关键词： diallel analysis floral morphology mode of inheritance pollination efficiency radish Raphanus sativus L

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Exfoliation syndrome:: prevalence and inheritance in a subisolate of the Finnish population

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ACTA OPHTHALMOLOGICA SCANDINAVICA 2007年第5期85卷 500-507页

作者： Forsman, Eva Cantor, Rita M. Lu, Ake Eriksson, Aldur Fellman, Johan Jarvela, Irma Forsius, Henrik Folkhalsan Inst Genet Populat Genet Unit Helsinki Finland Univ Calif Los Angeles David Geffen Sch Med Dept Human Genet Los Angeles CA USA Univ Helsinki Dept Med Genet FIN-00014 Helsinki Finland

Purpose: To estimate the prevalence of pseudoexfoliation syndrome or exfoliation syndrome (ES) in a cross-sectional study and during a long-term follow-up, and to analyse how ES has been inherited in a large pedigree on an isolated population of Kokar island in southern Finland. Methods: In a population-based study conducted between 1960 and 1962, a comprehensive ophthalmological examination was performed on 595 subjects (85% of the population). From then until 2002, 965 subjects were examined at least once. A pedigree was constructed for all ES-affected subjects according to genealogical studies. The genetic contribution to ES was investigated in this pedigree by segregation analysis and the heritability of the intraocular pressure (IOP) quantitative trait estimated using SOLAR and SAGE software. Results: In the cross-sectional study, the prevalence of ES was 8.1% for 247 subjects over 50 years of age (males 7%, females 9%) and increased to 18.4% for 70 subjects over 70 years of age (males 13%, females 25%). In addition, two females less than 50 years of age were ES-affected. Between 1960 and 2002, 76 (14.3%) of 530 subjects over 50 years of age had ES [23 males (10%) and 53 females (18%)]. Exfoliation glaucoma (EG) was found more often in males (11 patients, 48%) than in females (13 patients, 25%) whereas primary open-angle glaucoma (POAG) was almost as frequent in males (seven patients, 3%) as in females (five patients, 2%). The relative risk (RR) of glaucoma (ES versus no ES) was 11.9 [95% confidence interval (CI) 6.2-22.9] for all the subjects - 14.6 for males (95% CI 6.3-34.0) and 11.8 for females (95% CI 4.4-31.6). Seventy-five pedigrees of 78 ES-affected patients were linked together into one large pedigree with 110 nuclear families. The segregation ratio of ES was 18% (8% for males, 24% for females) when both parents were unaffected, and 16% (9% for males, 27% for females) when at least one parent was affected. The heritability of IOP was estimated to be 30

关键词： exfoliation syndrome mode of inheritance prevalence risk for glaucoma

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On estimation of the variance in Cochran-Armitage trend tests for genetic association using case-control studies

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STATISTICS IN MEDICINE 2006年第18期25卷 3150-3159页

作者： Zheng, Gang Gastwirth, Joseph L. NHLBI Off Biostat Res Bethesda MD 20892 USA George Washington Univ Dept Stat Washington DC 20052 USA

The Cochran-Armitage trend test has been used in case-control studies for testing genetic association. As the variance of the test statistic is a function of unknown parameters, e.g. disease prevalence and allele frequency, it must be estimated. The usual estimator combining data for cases and controls assumes they follow the same distribution under the null hypothesis. Under the alternative hypothesis, however, the cases and controls follow different distributions. Thus, the power of the trend tests may be affected by the variance estimator used. In particular, the usual method combining both cases and controls is not an asymptotically unbiased estimator of the null variance when the alternative is true. Two different estimates of the null variance are available which are consistent under both the null and alternative hypotheses. In this paper, we examine sample size and small sample power performance of trend tests, which are optimal for three common genetic models as well as a robust trend test based on the three estimates of the variance and provide guidelines for choosing an appropriate test. Copyright (c) 2006 John Wiley & Sons, Ltd.

关键词： biased estimate efficiency robust test genetic models MAX mode of inheritance power

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Living donor liver transplantation for pediatric patients with inheritable metabolic disorders

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AMERICAN JOURNAL OF TRANSPLANTATION 2005年第11期5卷 2754-2763页

作者： Morioka, D Kasahara, M Takada, Y Corrales, JPG Yoshizawa, A Sakamoto, S Taira, K Yoshitoshi, EY Egawa, H Shimada, H Tanaka, K Kyoto Univ Hosp Organ Transplant Unit Sakyo Ku Kyoto 6068507 Japan Kyoto Univ Fac Med Dept Transplantat & Immunol Sakyo Ku Kyoto 6068507 Japan Yokohama City Univ Grad Sch Med Dept Surg Gastroenterol Kanazawa Ku Yokohama Kanagawa 2360004 Japan

Forty-six pediatric patients who underwent living donor liver transplantation (LDLT) using parental liver grafts for inheritable metabolic disorders (IMD) were evaluated to determine the outcomes of the surgery, decisive factors for post-transplant patient survival and the impact of using donors who were heterozygous for the particular disorder. Disorders included Wilson disease (WD, n = 21), ornithine transcarbamylase deficiency (OTCD, n = 6), tyrosinemia type I (TTI, n = 6), glycogen storage disease (GSD, n = 4), propionic acidemia (PPA, n = 3), methylmalonic acidemia (MMA, n = 2), Crigler-Najjar syndrome type I (CNSI, n = 2), bile acid synthetic defect (BASD, n = 1) and erythropoietic protoporphyria (EPP, n = 1). The post-transplant cumulative patient survival rates were 86.8 and 81.2% at 1 and 5 years, respectively. Post-transplant patient survival and recovery of the growth retardation were significantly better in the liver-oriented diseases (WD, OTCD, TTI, CNSI and BASD) than in the non-liver-oriented diseases (GSD, PPA, MMA and EPP) and pre-transplant growth retardation disadvantageously affected post-transplant outcomes. Although 40 of 46 donors were considered heterozygous for each disorder, neither mortality nor morbidity related to the heterozygosis has been observed. LDLT using parental donors can be recommended as an effective treatment for pediatric patients with IMD. In the non-liver-oriented diseases, however, satisfactory outcomes were not obtained by hepatic replacement alone.

关键词： donor selection heterozygous carrier mode of inheritance

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Genetic predisposition - understanding underlying mechanisms of onychomycosis

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JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 2005年第S1期19卷 17-19页

作者： Faergemann, J Correia, O Nowicki, R Ro, BI Sahlgrenska Univ Hosp Dept Dermatol SE-41345 Gothenburg Sweden Ctr Dermatol Epidermis Oporto Portugal Klin Dermatol Wenerol & Alergol PL-80211 Gdansk Poland Chung Ang Univ Coll Med Seoul 156756 South Korea

Background There are numerous factors that predispose to onychomycosis including genetic predisposition, diabetes mellitus, immunosuppression, vascular disease and psoriasis. Objectives The aims of this workshop were to discuss current knowledge of genetic risk factors and the approaches that should be used to investigate underlying mechanisms. Results The high prevalence of onychomycosis within certain families was initially attributed to intrafamilial transmission. However, the low prevalence of infection in people marrying into infected families together with the high prevalence among their offspring suggested a genetic basis. The state-of-the-art pedigree study by Zaias et al. suggested that Trichophyton rubrum infection shows an autosomal dominant pattern of inheritance. A consensus was reached that epidemiological and genetic studies are required to investigate this issue further. For epidemiological studies, families in which two or three generations are infected with T rubrum should be selected. Patients with T rubrum on different body sites should be included, and the presence of associated diseases or other common features in these individuals should be investigated to identify trigger factors. Conclusion Genetic studies should explore the mode of inheritance of onychomycosis and took for the disease gene(s). Serum samples from patients and age-sex matched controls must be analysed centrally. The results of these studies will make it possible to develop therapeutic, preventive and prophylatic measures and to provide patients and their families with information.

关键词： genetics mode of inheritance onychomycosis pedigrees predisposition underlying mechanism

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Genetic analysis and cross-resistance spectrum of a laboratory-selected chlorfenapyr resistant strain of two-spotted spider mite (Acari: Tetranychidae)

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EXPERIMENTAL AND APPLIED ACAROLOGY 2004年第4期32卷 249-261页

作者： Van Leeuwen, T Stillatus, V Tirry, L Univ Ghent Fac Agr & Appl Biol Sci Dept Crop Protect Lab Agrozool B-9000 Ghent Belgium

A laboratory susceptible strain of Tetranychus urticae was selected with chlorfenapyr resulting in a resistant strain. After 12 cycles of exposure, the resistance ratio (RR) calculated from the LC(50)s of susceptible and selected strain was 580. The resistant strain was screened with 16 currently used acaricides for cross-resistance. Cross-resistance was detected with amitraz (RR=19.1), bifenthrin (RR=1.3), bromopropylate (RR=7.5), clofentezine (RR=29.6) and dimethoate (RR=17.6). No cross-resistance was detected with the new molecules acequinocyl, bifenazate and spirodiclofen. Mortality caused by chlorfenapyr in the F-1 progeny from reciprocal crosses between both strains indicated that the mode of inheritance was incomplete recessive. Mortality in F-2 progeny indicated that the resistance was under the control of more than one gene. Synergist experiments with S,S,S-tributylphosphorotrithioate (DEF), piperonylbutoxide (PBO) and diethylmaleate (DEM), which are inhibitors of esterases, monooxygenases and glutathion-S-transferases respectively, suggested a major role of esterases in the resistance to chlorfenapyr.

关键词： bioassay chlorfenapyr resistance cross-resistance laboratory selection miticide mode of inheritance Tetranychus urticae

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