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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,{3., usa 3. department of biomedical sciences, creighton university,{3., usa 4. Virginia Bioin format ics Institute and department of Statistics, Virginia Polytechnic Institute and State university, Blacksburg VA 24061-03.5, 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 3.0006,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 3.3.% 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 26.3.% 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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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,{3. 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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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 3.0006,China 3.Osteoporosis Research Center and department of biomedical sciences,creighton university Medical Center,601 N 3.th 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 3.0 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,{3. 3.departments of Orthopedic Surgery and Basic Medical sciences, university of Missouri-Kansas City,Kansas City,MO,{3.

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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Epidemiological, Clinical, and Evolutionary Profile of Children Admitted to the Pediatric Emergency department of the Maroua Regional Hospital, Cameroon

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Open Journal of Pediatrics 2024年第5期14卷 878-888页

作者： Soureya Haman Kamo Selangaï Héléne Enyama Dominique Abouame Palma Haoua Salihou Sadjo Mekone Nkwele Isabelle Nguefack Félicitée Faculty of Medicine and biomedical sciences University of Garoua Garoua Cameroon Garoua General Hospital Garoua Cameroon Faculty of Medicine and Pharmaceutical sciences University of Dschang Dschang Cameroon Faculty of Medicine and biomedical sciences University of Yaound Yaound Cameroon

Introduction: Pediatric emergencies in developing countries are associated with high morbidity and mortality. The Maroua Regional Hospital (MRH) is one of the referral centers for pediatric emergencies in the Far north region of Cameroon. Pediatric emergencies are frequent in Maroua and are associated with significant mortality. The aim of our study is to determine the epidemiological, clinical, and evolutionary profile of children admitted to the pediatric emergency department of the HRM. Methods: We conducted an observational, descriptive, and retrospective study over a period from April 10, 2023.to April 10, 2024, focusing on the records of patients admitted to the pediatric emergency department of the MRH. The variables studied included epidemiological, clinical, and evolutionary characteristics. Data analysis was performed using CSPro version 8.01 and SPSS version 27.0. Results: We included 1027 patients;the sex ratio was 1.2 infants under 2 years represented 54.3.%. The main reasons for consultation were fever (62.22%) and seizures (3..18%). The most frequently prescribed additional test was the Complete Blood Count (CBC), performed in 97.3.% of cases. The most common pathologies were severe malaria (45.18%), broncho-pulmonary infections (15.48%), and bacterial meningitis (12.26%). At admission, 3..9% were transfused. There were 68 deaths, representing 6.67%, and 86% of the deaths occurred within 24 hours of admission. The leading cause of death was severe malaria, with 28 (41.17%) cases. Conclusion: Febrile illnesses were the main reason for consultation, and mortality was linked to severe malaria. Therefore, in addition to the other preventive methods already used against malaria, it is recommended to consider the use of the malaria vaccine.

关键词： Pediatric Emergencies Malaria Cameroon

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Association between eIF3. Polymorphism and Severe Toxicity Caused by Platinum-based Chemotherapy in Non-Small Cell Lung Cancer Patients

Association between eIF3α Polymorphism and Severe Toxicity ...

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传承与发展，创湖南省生理科学事业的新高——湖南省生理科学会2011年度学术年会

作者： Xiaojing Xu1,Lifang Han1,Li Duan2,Yingchun Zhao3.Huaping Yang4,Boting Zhou5,Honghao Zhou1,Zhaoqian Liu1(1Institute of Clinical Pharmacology,Hunan Key Laboratory of Pharmacogenetics,Central South university,Changsha,Hunan 410078,China 2 department of Oncology,Zhongnan Hospital,Wuhan university,Wuhan,Hubei 43.071,China 3.Osteoporosis Research Center,{3. university Medical Center,omaha,ne 68124,usa 4 department of Respiratory Medicine,Xiangya Hospital,Central South university,Changsha,Hunan 410008,China 5 department of Pharmacy,Xiangya Hospital,Central South university,Hunan 410008,China)

Background Platinum-induced toxicity severely impedes successful chemotherapy in lung cancer *** excision repair(neR)pathway is considered as one of the major factors contributing to platinum side effects. Furthermore... 详细信息

关键词： eIF3.,non-small cell lung cancer(NSCLC),platinum toxicity,ototoxicity,nephrotoxicity,survival analysis

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ERα3. gene silencing inhibit apoptosis induced by MPP+ in PC12 cells

ERα36 gene silencing inhibit apoptosis induced by MPP+ in P...

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中国生理学会第23.全国会员代表大会暨生理学学术大会

作者： Dan-Nv HAN~1,Yi-Ni MA~1,Xiao-Feng LIANG~1,Yu-Ying CUI~1,Zhao-Yi WANG~3.Wei ZOU~(1,2,*) 1 College of Life Science,Liaoning Normal university,Dalian 116029,China 2 The Key Laboratory of Biotechnology and Molecular Pharmacy in Liaoning Province,Dalian 116029,China 3.department of Medical Microbiology and Immunology,creighton university School of Medicine,omaha,ne 68178,usa

As an important endogenous steroid hormone,estrogen regulates sexual development,maturation and reproductive *** studies have found that estrogen,in particular,has profound effects on neuroprotection in central nervous *** action is through the binding of intracellular receptors that act as transcription *** actions are mediated by estrogen receptor-α(ERα) and estrogen receptor-β(ERβ).ERαcontains three members,ERα-66,ERα-46 and ERα-***-α3.,a 3. kDa protein,is a novel variant of ERα.Compared with ERα-66,ERα-3. lacks both transcriptional activation domains(AF-1 and AF-2),but it retains the DNA-binding domain,partial dimerization and ligand-binding *** ER-α66,which is often detected in the cell nucleus,ER-α3. mainly localizes in the cytoplasm and plasma ***,some groups have found that ERα-3. has multiple roles in many cancer *** and antiestrongen can both stimulate cell proliferation through membrane-associated ERα***,in central nervous system,the function of ERα-3. is unknown. Here,we report that the expression of ERα-3. and contribution of caspase-3.mediated by ERα-3. to the MPP-induced apoptosis in PC12 cells by using Western ***,we transfected ERα-3. shRNA plasmid and established the ERα-3.-downregulated PC12 cells model(PC12-3.L1).And then,flow cytometry and Heochst3.3.2 staining methods were used for apoptosis ***,we examined caspase-3.signal proteins related to cell *** were pretreated with estrogen(E2,1 h) followed by treatment with MPP(48 h).The results showed that(1) ERα-3. was expressed in PC12 cells,(2) Both PC12 cell and PC12-3.L1 cell showed apoptosis after treatment with MPP(48 h).The expression of caspase-3.in PC12-L1 cell was lower than that of PC12 cells (P3.in PC12- L1 and PC12 cells,and in PC12 cell the expression of caspase-3.was higher than that

关键词： estrogen receptor alpha 3. estrogen PC12 Cells MPP+ apoptosis caspase-3

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Effects of SCN1A Gene Polymorphisms on efficacy and safety of carbamazepine treatment on partial-onset seizures in Chinese Han Population

Effects of SCN1A Gene Polymorphisms on efficacy and safety o...

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传承与发展，创湖南省生理科学事业的新高——湖南省生理科学会2011年度学术年会

作者： Bo-Ting Zhou1,2,Qiu-Hong Zhou3.Guo-Liang Li4,Jian Qu1,Ding Liu5,Xiao-Jing Xu1,Lan-Juan Zhao6,Hong-Hao Zhou1,Zhao-Qian Liu1(1Institute of Clinical Pharmacology,Hunan Key Laboratory of Pharmacogenetics,Central South university Xiang-Ya School of Medicine 2department of Pharmacy,Xiang-Ya Hospital of Central South university,Changsha,Huan,China 3.1} of Endocrinology,Xiang-Ya Hospital of Central South university,Changsha,Hunan,China 4department of neurology,Xiang-Ya Hospital of Central South university,Changsha,Hunan,China 5department of neurology,Third Xiang-Ya Hospital of Central South university,Changsha,Hunan,China 6Osteoporosis Research Center,creighton university Medical Center,omaha,ne,usa)

Aims In this study,for rs3.12718 G/A and rs2298771 A/G polymorphisms of sodium channel α subunit type 1(SCN1A)gene,we investigated whether SCN1A polymorphisms impacted the efficacy and safety of carbamazepine(CBZ)in ... 详细信息

关键词： SCN1A,genetic polymorphism,carbamazepine,epilepsy

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Clinical and Evolutive Aspects of Severe Acute Malnutrition in Children Aged 0 - 59 Months at Maroua Regional Hospital in Cameroon’s Far North Region

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Open Journal of Pediatrics 2024年第4期14卷 700-711页

作者： Palma Haoua Abouame Selangai Hélène Kamo Sime Tchouamo Arielle Annick Fernando Kemta Lepka Daniel nemsi Sadjo Salihou Aminou Haman Soureya Yolande Feudjo Ulrich Dama Félicitée Nguefack Faculty of Medicine and biomedical sciences University of Garoua Garoua Cameroon Maroua Regional Hospital Maroua Cameroon Garoua General Hospital Garoua Cameroon Yaounde Gynaeco-Obstetrics Hospital Yaounde Cameroon Faculty of Medicine and Pharmaceutical sciences University of Dschang Dschang Cameroon Douala General Hospital Douala Cameroon department of Health sciences Catholic University of Central Africa Yaounde Cameroon university of Lisala Lisala Democratic Republic of the Congo Faculty of Medicine and biomedical sciences University of Yaound I Yaounde Cameroon

Introduction: Severe acute malnutrition remains one of the most important causes of under-five mortality. In Cameroon, the northern regions have the highest prevalence, with 1.4% in the Far North in 2021. These children are managed at the Internal therapeutic and Nutrional Centre, one of which is located at Maroua Regional Hospital, the third level referral Hospital. We therefore proposed to carry out a study on the clinical and evolutive aspects of these children. Materials and Methods: it was a descriptive, cross-sectional study from January 2020 to December 2022, at the ITNC (CNTI) of Maroua Regional Hospital. The sample size was obtained from the Lorentz formula. Patient records were used for data collection. We excluded all incomplete records and patients with less than 24 hours of admission. Results: Out of the 873.patients we recruited, the prevalence of severe malnutrition was estimated at 18 %. The average age was 14 months, with a male predominance. The main reasons for consultation were fever (42%) and diarrhoea (3.%). Marasmus was the predominant clinical form. The major medical complications were sepsis (3..9%) and malaria (16.8%). HIV prevalence was 2.5% and tuberculosis was 4.9%. Most patients had haemoglobin levels between 7 and 10g/dl. 79.3. were cured and 6.5% died. The main causes of death were sepsis and malaria. Conclusion: Severe acute malnutrition remains a major problem in the Far North region. Several joint actions are needed to break this cycle.

关键词： Severe Acute Malnutrition Children Far North Cameroon

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