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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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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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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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Interaction effects between estrogen receptor α and vitamin D receptor genes on age at menarche in Chinese women

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Acta Pharmacologica Sinica 2005年第7期26卷 860-864页

作者： Hong XU~(1,2) Ji-rong LONG~3 Miao-xin LI~1 Hong-wen DENG~(1,3) 1 Laboratory of Molecular and Statistical Genetics,College of Life Sciences,Hu-nan 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,601 N 30th St,Suite 6787,omaha,ne 68131,usa Laboratory of Molecular and Statistical Genetics College of Life Sciences Hu-nan Normal University Changsha 410081 China Department of Physiology Jiangxi Medical College Nanchang 330006 China osteoporosis research center and Department of Biomedical Sciences Creighton University Medical Center 601 N 30th St Suite 6787 Omaha 68131 NE USA

Aim:To evaluate whether estrogen receptor α(ER-α)and vitamin D receptor(VDR)genes are associated with the age at menarche in Chinese ***:A total of 390 pre-menopausal Chinese women were genotyped at the ER-α PvuII,XbaI,and VDR Apal loci using polymerase chain reaction(PCR)-restriction frag-ment length polymorphism(RFLP).Results:neither the ER-α gene nor the VDRgene individually had significant effects on the age at menarche in our subjects(P>0.10).However,evidence of interaction effects between the two genes wereobserved:with the aa genotype at the VDR ApaI locus,subjects with haplotypePX at the ER-α gene had,on average,6 months later onset of menarche than thenon-carriers(P=0.01).Conclusion:We found that neither the ER-α gene or theVDR gene had a significant association with the age at menarche ***,potential interaction effects between the two genes were observed inChinese women.

关键词： menarche association haplotype estrogen receptor a gene vitamin D receptor gene

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Dominant and recessive models reveal new candidate genes with bone geometry:meta-analysis of genome-wide association studies

Dominant and recessive models reveal new candidate genes wit...

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第十五次全国动物遗传育种学术讨论会

作者： Jiapeng Zhou~1,Lanjuan Zhao~2,Jian Li~3,Peng Xiao~2,Qin Zhang~1,Hongwen Deng~3 1.State Key Laboratory for Agrobiotechnology,Key Laboratory of Animal Genetics and Breeding of the Ministry of Agriculture, College of Animal Science and Technology,China Agricultural university,Beijing,China 2.osteoporosis research center, creighton university medical center,omaha,ne,usa 3.Departments of Orthopedic Surgery and Basic medical Sciences, university of Missouri-Kansas City,Kansas City,MO,usa

Introduction Genome-wide association(GWA) studies have begun to apply to genetic researches and attempt to understand the undetermined and overwhelming majority of genetic variation accounting for human diseases,such ... 详细信息

关键词： human bone geometry genome-wide association meta-analysis

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Association of estrogen receptor-alpha and vitamin D receptor genotypes with therapeutic response to calcium in postmenopausal Chinese women

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Acta Pharmacologica Sinica 2004年第12期25卷 124-131页

作者： Zhen-lin ZHANG1, Yue-juan QIN, Qi-ren HUANG, Jin-wei HE, Miao LI, Qi ZHOU, Yun-qiu HU, Yu-juan LIU center for Preventing and Treating osteoporosis, osteoporosis research Unit, TheSixth People’sHospital, ShanghaiJiaotong university, Shanghai 200233, China center for Preventing and Treating osteoporosis Osteoporosis Research Unit The Sixth People Hospital Shanghai Jiaotong University Shanghai 200233 Chin

AIM: To investigate the correlation between calcium treatment in postmenopausal women and estrogen receptor- alpha (ER-alpha) Xba I and Pvu II genotype and vitamin D receptor (VDR) Apa I genotype. METHODS: One hundred fifteen postmenopausal Chinese women of Han population were enrolled and treated with calcichew-D3 (1000 mg calcium and 400 U vitamin D3) daily for 1 year. At entry and after 1 year treatment, the bone mineral density (BMD), serum and urinary bone turnover biochemical markers were evaluated. ER-alpha and VDR geno- type were analyzed using PCR-restriction fragment length polymorphism. RESULTS: After 1 year of calcium supplementation, a significant increase of BMD and a marked reduction in serum ALP and PTH levels, and a significant increase of serum 25-(OH) vitamin D level were observed (Pneck, and Troch, and all bone turnover marker levels. However, the percentage of change (median, QR) in neck BMD was significantly different in homozygous XX [-4.14 (from -6.54 to -1.34)] in comparison with Xx [1.72 (from -1.12 to 3.20)] (P22 (from -1.74 to 3.06)] Xba I ER-alpha genotype (P=0.001). CONCLUSION: Women with ER-α Xba I genotype XX may have a higher risk of relatively fast bone mass loss in femoral neck after menopause and that they may have a poor responsiveness to calcium supplementation. The changes in BMD are not associated with ER-alpha Pvu II genotype and VDR Apa I genotype after 1 year of calcium supplementation.

关键词： bone density estrogen receptors calcitriol receptors polymorphism (genetics)

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定量CT在健康管理中的应用指南(2024)

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中华健康管理学杂志 2024年第9期18卷 645-654页

作者：中华医学会健康管理学分会国家骨科医学中心(首都医科大学附属北京积水潭医院) 国家级放射影像专业质控中心国家老年疾病临床医学研究中心(解放军总医院) 中国老年学和老年医学学会骨质疏松分会《中华健康管理学杂志》编辑委员会程晓光曾强郭智萍李永丽汪菲过哲孙永兵不详首都医科大学附属北京积水潭医院北京100035 解放军总医院第二医学中心北京100853 阜外华中心血管病医院郑州451404 河南省人民医院

定量CT(QCT)在我国骨质疏松症的诊断中已被广泛规范使用,促进了中国骨质疏松症的规范诊疗。近几年QCT在肝脏脂肪、腹部内脏脂肪测量方面也取得重要进展,其准确性和可重复性均得到了验证。QCT因其成像技术的优势,在健康管理中的应用前景... 详细信息

定量CT(QCT)在我国骨质疏松症的诊断中已被广泛规范使用,促进了中国骨质疏松症的规范诊疗。近几年QCT在肝脏脂肪、腹部内脏脂肪测量方面也取得重要进展,其准确性和可重复性均得到了验证。QCT因其成像技术的优势,在健康管理中的应用前景广阔。来自全国多学科的专家根据近几年国际和国内QCT临床应用共识及文献,经过充分的讨论共同制定了本指南。本指南主要适用场景为健康管理学领域,共包括11条推荐意见,主要针对基于QCT技术在骨质疏松症的健康体检模式、适用人群、诊断标准、测量、随访等内容进行了规范推荐,旨在为QCT骨质疏松症临床应用方面提供科学、具体的指导,促进骨质疏松症的规范诊疗。此外,本指南对QCT技术在肝脏脂肪和腹部内脏脂肪健康体检模式及测量层面进行了统一,以确保临床医师充分利用QCT技术优势对脂肪肝和肥胖的防治进行科学指导。

关键词：体层摄影术,X线计算机骨质疏松脂肪肝肥胖症健康调查健康促进健康管理指南

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CMV-hFasL transgenic mice are sensitive to low doses of streptozotocin-induced type Ⅰ diabetes mellitus

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Acta Pharmacologica Sinica 2003年第12期 25-30页

作者： LIN Bo, ZHANG Zhen-Lin~2, YU Lu-Yang, GUO Li-He~3 Institute of Biochemistry and Cell Biology, Shanghai lnstitute for Biological Sciences, Chinese Academy of Sciences Shanghai 200031 ~2center for Preventing and Treating osteoporosis, osteoporosis research Unit, Shanghai Jiaotong university Affiliated Sixth People's Hospital, Shanghai 200233, China

AIM: To investigate the role of Fas-FasL pathway in the pathogenesis of streptozotocin (STZ)-induced type Ⅰ diabetes mellitus. METHODS: Low dose injections of STZ were used to induce type Ⅰ diabetes mellitus in the CMV-hFasL transgenic mice. Blood glucose concentration was measured with Glucotrand Plus blood glucose test strips. Expression of hFasL was detected by RT-PCR and Western blotting. The severity of insulitis was determined by histological examination. Expressions of IL-1β and TNF-α mRNA in the pancreas were detected by semi-quantitative RT-PCR analysis. Fas expression in apoptotic RIN-5F cells was also confirmed by RT-PCR in vitro. RESULTS: hFasL was expressed in the islets of CMV-hFasL transgenic mice. The transgenic mice were sensitive to diabetic induction than the control WT mice. IL-1β and TNF-α expressions in the pancreas of CMV-hFasL transgenic mice were far more than that in WT mice. We also found STZ and IL-1β could both induce higher expression of Fas in RIN-5F. The combining

关键词： transgenic mice Fas Fas ligand type Ⅰ diabetes mellitus streptozotocin apoptosis interleukin-1 tumor necrosis factor

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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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The Characteristics of the Bottom Boundary(T11) of Late Cretaceous Yaojia Formation in Songliao Basin and Its Dynamic Background

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地学前缘 2009年第S1期16卷 173-174页

作者： Ying Song~1,Jianye Ren~2 1.Faculty of Earth Resources,China university of Geosciences,Wuhan 430074,China. 2.Structural research center of Oil & Gas Bearing Basin,Ministry of Education,Branch center in China university of Geosciences,Wuhan 430074,China

Well-preserved Cretaceous lacustrine deposits in Songliao Basin ne China provide a unique opportunity both for building the terrestrial type stage of Cretaceous in China and for studying the response of Cretaceous maj... 详细信息

关键词： Songliao Basin T11 boundary tectonic inversion responding surface tectonic revolution

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