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LOD score exclusion analyses for candidate disease susceptibility genes using case-parents design

Progress in Natural Science:Materials International 2006年第1期16卷 30-38页

作者： DENG Hongwen1,2,3 and GAO Guimin2,4 (1.Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal university, Changsha 410081, China 2.Osteoporosis Research Center, creighton university Medical Center, Omaha NE 68131, USA 3. Department of Biomedical Sciences, creighton university, Omaha NE 68131, USA 4. Virginia Bioin format ics Institute and Department of Statistics, Virginia Polytechnic Institute and State university, Blacksburg VA 24061-0315, USA) [a]Laboratory of Molecular and Statistical Genetics College of Life Sciences Human National University Changsha China [b]Osteoporosis Research Center Creighton University Medical Center Omaha NE USA [c]Department of Biomedical Sciences Creighton University Omaha NE USA [d]Virginia Bioinformatics Institute and Department of Statistics Virginia Polytechnic Institute and State University Blacksburg VA USA

The focus of almost all the association studies of candidate genes is to test for their importance. We recently developed a LOD score approach that can be used to test against the importance of candidate genes for complex diseases and quantitative traits in random samples. As a complementary method to regular association analyses, our LOD score approach is powerful but still affected by the population admixture, though it is more conservative. To control the confounding effect of population heterogeneity, we develop here a LOD score exclusion analysis using case-parents design, the basic design of the transmission disequilibrium test (TDT) approach that is immune to population admixture. In the analysis, specific genetic effects and inheritance models at candidate genes can be analyzed and if a LOD score is ≤ - 2. 0, the locus can be excluded from having an effect larger than that specified. Simulations show that this approach has reasonable power to exclude a candidate gene having small genetic effects if it is not a disease susceptibility locus (DSL) with sample size often employed in TDT studies. Similar to association analyses with the TDT in nuclear families, our exclusion analyses are generally not affected by population admixture. The exclusion analyses may be implemented to rule out candidate genes with no or minor genetic effects as supplemental analyses for the TDT. The utility of the approach is illustrated with an application to test the importance of vitamin D receptor (VDR) gene underlying the differential risk to osteoporosis.

关键词： association studies candidate genes case-parents design disease susceptibility locus exclusion mapping LOD score.

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Recent Development in Genetic and Molecular Studies of Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma

Recent Development in Genetic and Molecular Studies of Chron...

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第四届中国肿瘤学术大会暨第五届海峡两岸肿瘤学术会议

作者： Qinglong Hu MD MSc creighton university Medical Center/School of Medicine Omaha Nebraska USA

＜正＞Chronic lymphocytic leukemia/small lymphocytic lymphoma（CLL/SLL） is the most common adult leukemia in United *** microarray studies indicated that the gene expression pattern resembles those normal memory B -cells. Cell origin of CLL appears to be memory or naive B - cells but still controversial. Study on the idiotype of IgV loci demonstrated that intrinsic and extrinsic antigen stimulation might play important role in the pathogenesis of CLL.

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Association between VDR Apal Polymorphism and Hip Bone Mineral Density Can Be Modified by Body Mass Index:A Study on Postmenopausal Chinese Women

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Acta Biochimica et Biophysica Sinica 2005年第1期 61-67页

作者： Hong XUI~(1,2) Dong-Hai XIONG~3 Fu-Hua XU~3 Yuan-Yuan ZHANG~3 Shu-Feng LEI~1 Hong-Wen DENG~(1,3*) ~1Laboratory of Molecular and Statistical Genetics,College of Life Sciences,Hunan Normal university.Changsha 410081,China ~2 Department of Physiology,Jiangxi Medical College,Nanchang 330006,China ~3 Osteoporosis Research Center and Department of Biomedical Sciences,creighton university Medical Center,Omaha,NE 68131,USA

Osteoporosis is a major public health problem for old *** factors are considered tobe major contributors to the pathogenesis of postmenopausal *** vitamin D receptor(VDR)gene is a prominent candidate gene for the regulation of postmenopausal bone mass;however,despite exten-sive studies,controversy remains regarding its association with postmenopausal body mineral density(BMD)*** this study,a total of 260 healthy postmenopausal Chinese women were genotyped at the VDRApaI locus using polymerase chain reaction(PCR)-restriction fragment length polymorphism (RFLP).Rawhip BMD was significantly associated with VDR ApaI polymorphism with and without adjusting for age(P=0.015 and 0.040,respectively).This genetic effect can explain 3.32% of hip BMD ***,the significant association vanished after correcting for both age and body mass index(BMI)(P=0.169).Inaddition,we observed a significant association between VDR ApaI polymorphism with unadjusted BMI(P=0.042)or BMI adjusted for age(P=0.049).The raw hip BMD was also found to be significantly corre-lated with BMI(r=0.517,P=0.0001),with BMI explaining 26.35% of the variation of hip *** of thesefacts prompt us to conclude that the significant association between the VDR ApaI genotype and hip BMDmay be modified by BMI in postmenopausal Chinese *** findings may partially explain the earlierinconsistent association results concerning the VDR gene and BMD,and highlight the importance of incorpo-rating covariates such as BMI into osteoporosis association studies.

关键词： body mass index(BMI) bone mineral density(BMD) genetic association osteoporosis vitamin D receptor(VDR)gene

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Caveolin-1 gene silencing promotes the activation of PI3K/AKT dependent on Erα36 and the transformation of MCF10A^(CE)

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Science China(Life Sciences) 2010年第5期53卷 598-605页

作者： FENG Shuang1,WANG Yang1,WANG Xi1,WANG ZhaoYi3,CUI YuYing1,LIU Jing4,ZHAO ChunHui1,JIN Mei1,2 & ZOU Wei1,2 1 College of Life Science,Liaoning Normal university,Dalian 116029,China 2 Liaoning Key Laboratory of Biotechnology and Molecular Drug R&D,Dalian 116029,China 3 Cancer Center,creighton university,2500 California Plaza,Omaha,NE 68178,USA 4 First Clinical Hospital of Dalian Medical university,Dalian 116011,China 1. College of Life Science Liaoning Normal University Dalian 116029 China3. Cancer Center Creighton University 2500 California Plaza Omaha NE 68178 USA4. First Clinical Hospital of Dalian Medical University Dalian 116011 China2. Liaoning Key Laboratory of Biotechnology and Molecular Drug R&D Dalian 116029 China

ERα36,a variant of estrogen receptor-α,acts as a dominant-negative factor in both estrogen-dependent and estrogen-independent transactivation signaling pathways,and is a key factor in the promotion,progression and prognosis of breast ***-1,a 22-to 24-kD integral membrane protein,may function as a tumor suppressor in inhibiting of many growth-promoting signaling *** was shown that downregulation of Caveolin-1 strengthens the interaction of ERα and *** conclusion,Caveolin-1 gene silencing activated the PI3K/AKT signaling pathway in an ERα36-dependent *** finding may provide a promising therapeutic target of breast cancer.

关键词： Caveolin-1 Estrogen receptor PI3K/AKT

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Association and linkage analysis of COLIA1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families

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Acta Pharmacologica Sinica 2007年第3期 375-381页

作者： Hui JIANG~(2,3,5) Shu-feng LEI~(2,5) Su-mei XIAO~2 Yuan CHEN~(2,3) Xiao SUN~2 Fang YANG~(2,3) Li-ming LI~2 Shan WU~2 Hong-wen DENG~(2,4,6)2 Laboratory of Molecular and Statistical Genetics and the Key Laboratory of Protein Chemistry and Developmental Biology of the Ministry of Education,College of Life Sciences,Hu-nan Normal university,Changsha 410081,China 3 Osteoporosis Research Center,creighton university,Omaha 68131,USA 4 Department of Orthopedic Surgery,School of Medicine,university of Missouri-Kansas City,Kansas City 64108,USA

Aim:To simultaneously investigate the contribution of the alpha 1 chain of col-lagen type 1(COLlAl)and alpha2-HS-glycoprotein(AHSG)genes to the varia-tion of bone geometric parameters in both Caucasians and ***:Sixhundred and five Caucasian individuals from 157 nuclear families and 1228 Chi-nese subjects from 400 nuclear families were genotyped at the AHSG-Sacl,COLIA1-PCOL2 and Spl polymorphisms using polymerase chain reaction(PCR)-restric-tion fragment length polymorphism(RFLP).5 FN bone geometric parameters werecalculated based on bone mineral density and bone area of femoral neck(FN)measured by dual energy X-ray *** stratification,totalfamily association,within-family association,and linkage tests were performed bythe quantitative transmission disequilibrium test ***:The t-testshowed the significant differences of all bone geometric phenotypes(except ED)between Caucasians and Chinese in the offspring using both unadjusted andadjusted(by age,height,weight,and gender)*** Caucasians,we foundsignificant within-family association results between the COLlAl-Spl polymor-phism(rs1800012)and cross sectional area(CSA),cortical thickness(CT),endocortical diameter(ED),buckling ratio(BR)(P=0.018,0.002,0.023,and 0.001,respectively);the COLlAl-Spl polymorphism also detected significant linkagewith BR(P=0.039).In the population of China,the within-family associationsbetween the COLlAl-PCOL2 polymorphism(rs1107946)and CT,BR were signifi-cant(P=0.012 and 0.008,respectively).Furthermore,evidence of linkage wereobserved between the AHSG-Sacl polymorphism(rs4918)and CT,BR(P=0.042and 0.014,respectively)in Caucasians,but not in ***:Ourresults suggest that the COLlAl gene may have significantly association withbone geometry in both Caucasians and Chinese,and the AHSG gene may belinked to bone geometry in Caucasians,but not in *** study representsour first efforts on investigating the importance of the COLlAl and A

关键词： COLIA1 AHSG bone geometry transmission disequilibrium test

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Prestin forms tetramer with each subunit being mechanically independent

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Journal of Otology 2009年第2期4卷 86-97页

作者： WANG Xiang 1, GUO Wei-wei 2, HE David Zhi-Zhou1, YANG Shi-Ming 2 1 Department of Biomedical Sciences, creighton university School of Medicine, Omaha, NE 68178, USA 2 Institute of Otolaryngology, Department of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853 Department of Biomedical Sciences Creighton University School of Medicine Omaha NE 68178 USA Institute of Otolaryngology Department of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital Beijing 100853

Prestin is the motor protein of cochlear outer hair cells （OHCs）. It is able to perform rapid and reciprocal electromechanical conversion that underlies OHC electromotility. Due to the inadequate size of a single prestin molecule to form the2 nm intramembraneous protein particles （IMPs） in the OHC lateral membrane （LM）, the possibility of prestin oligomerization has been proposed. It has been suggested that prestin molecules form highorder oligomers, most likely as the tetramer, in heterologous systems. In OHCs, however, the oligomeric structure of prestin remains unclear. Here we calculated the prestin-related charge density in both gerbil and guinea pig OHCs through measuring their nonlinear capacitance （NLC） and LM surface area, showing that the average charge density （22, 608 μm-2 in gerbils; 19, 460 μm-2 in guinea pigs） is statistically 4 times the average density of IMPs （5,686 μm-2 in gerbils; 5, 000 μm-2 in guinea pigs）. This suggests that each IMP contains four prestin molecules based upon the notion that each prestin transfers a single elementary charge, implying that prestin forms tetramers in OHCs. To determine whether the prestin tetramer functions as a mechanical unit, we subsequently compared the slope factors （α） of electromotility and NLC simultaneously measured from the same OHC, showing that the α values of the two are statistically the same. This suggests that each prestin molecule in the tetramer is mechanically independent and equally contributes to OHC electromotility.

关键词： Prestin oligomer outer hair cells electromotility nonlinear capacitance gerbil

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A NOVEL METHOD TO DETECT LEFT VENTRICULAR DYSSYNCHRONY BY PULSED AND TISSUE DOPPLER:SENSITIVITY AND AGREEMENT.

A NOVEL METHOD TO DETECT LEFT VENTRICULAR DYSSYNCHRONY BY PU...

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第九届全国超声心动图学术会议

作者： Xuedong Shen Cardiac Center of creighton university,Omaha,NE,68131 USA Guoqian Huang Pingping Yan Jun Zhu Ying Shan Yong LI Zi Ye Haiming Shi Huashan Hospital,Fudan university,Shanghai 200040

QRS complex width is not an accurate marker of left ventricular mechanical dyssynchrony (LVMD). Echocardiography is the optimal tool to assess LVMD, but results are inconsistent. LVMD determined by a method using combined pulsed wave Doppler (PW) and tissue Doppler imaging (TDI) is a novel method and has been recently reported. Our aims were to evaluate the sensitivity, specificity, positive and negative predictive

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IMPROVEMENT OF LEFT VENTRICULAR DYSSYNCHRONY AND RESPONSE TO CARDIAC RESYNCHRONIZATION THERAPY BY USING BETA BLOCKER

IMPROVEMENT OF LEFT VENTRICULAR DYSSYNCHRONY AND RESPONSE TO...

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第九届全国超声心动图学术会议

作者： Xuedong Shen Cardiac Center of creighton university,Omaha,NE.68131 USA Guoqian Huang Pingping Yan Jun Zhu Ying Shan Yong LI Zi Ye Haiming Shi Huashan Hospital,Fudan university,Shanghai 200040

The impact of beta blocker treatment in patients with left ventricular mechanical dyssynchrony (LVMD) and response to cardiac resynchronization therapy (CRT) has not been well delineated. We hypothesized that beta blo...

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THE PREDICTIVE VALUE OF LEFT ATRIAL VOLUME IN PATIENTS WITH WIDE QRS,LEFT VENTRICULAR DYSSYNCHRONY AND CARDIAC RESYNCHRONIZATION THERAPY.

THE PREDICTIVE VALUE OF LEFT ATRIAL VOLUME IN PATIENTS WITH ...

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第九届全国超声心动图学术会议

The impact of left atrial volume (LAV) in patients with wide QBS duration (QBSD) and left ventricular mechanical dyssynchrony (LVMD) on response to cardiac resynchronization therapy (CBT) has not been well

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LEFT VENTRICULAR RESTRICTIVE FILLING AS A PREDICTOR OF OUTCOME IN PATIENTS WITH CARDIAC RESYNCHRONIZATION THERAPY.

LEFT VENTRICULAR RESTRICTIVE FILLING AS A PREDICTOR OF OUTCO...

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第九届全国超声心动图学术会议

Left ventricular restrictive filling (LVBF) as a predictor of outcome in patients with cardiac resynchronization therapy (CRT) has not been well investigated. The purpose of this study is to evaluate impact of LVBF on left ventricular mechanical dyssynchrony (LVMD) and prediction of responses to CBT and mortality. Method: We studied 100 consecutive patients (male 73, female 27, age 69.9±9.6 years) with CRT [left ventricular ejection

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