Fine mapping of susceptibility genes by Lewontin's linkage disequilibrium measure with application to Alzheimer's disease.

Abstract:

OBJECTIVES:To formulate an equation for fine mapping of disease loci under complex conditions and determine the marker-disease distance in a specific case using this equation. METHODS:Lewontin's linkage disequilibrium (LD) measure D' was used to formulate an equation for mapping disease genes in the presence of phenocopies, locus heterogeneity, gene-gene and gene-environment interactions, incomplete penetrance, uncertain liability and threshold, incomplete initial LD, natural selection, recurrent mutation, high disease allele frequency and unknown mode of inheritance. This equation was then used to determine the distance between a marker ( epsilon 4 within the apolipoprotein E gene, APOE) and Alzheimer's disease (AD) loci using published data. RESULTS:An equation was formulated for mapping disease genes under the above conditions.If these conditions are present but ignored, then recombination fraction theta between marker and disease loci will be either overestimated or estimated with little bias. Therefore, an upper limit of theta can be obtained. AD has been found to be associated with the marker allele epsilon 4 in Africans, Asians, and Caucasians. This suggests that the AD- epsilon 4 allelic LD predates the divergence of peoples occurring 100 000 years ago. With the age of AD- epsilon 4 allelic LD so estimated, the maximal distance was calculated to be 23.2 kb (mean 5.8 kb). CONCLUSIONS:(1) A method is developed for LD mapping of susceptibility genes. (2) A mutation within the APOE gene itself, among others, is responsible for the susceptibility to AD, which is supported by recent evidence from studies using transgenic mice.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Gong G,Haynatzki G,Deng HW,Recker RR,Mordeson J,Cheng SC,Fong N

keywords:

subject

Has Abstract

pub_date

2002-08-01 00:00:00

pages

1233-40

issue

8

eissn

0366-6999

issn

2542-5641

journal_volume

115

pub_type

杂志文章
  • Severe acute respiratory syndrome-associated coronavirus genotype and its characterization.

    abstract:OBJECTIVE:To study the severe acute respiratory syndrome (SARS)-associated coronavirus genotype and its characteristics. METHODS:A SARS-associated coronavirus isolate named ZJ01 was obtained from throat swab samples taken from a patient in Hangzhou, Zhejing province. The complete genome sequence of ZJ01 consisted of 2...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Li L,Wang Z,Lu Y,Bao Q,Chen S,Wu N,Cheng S,Weng J,Zhang Y,Yan J,Mei L,Wang X,Zhu H,Yu Y,Zhang M,Li M,Yao J,Lu Q,Yao P,Bo X,Wo J,Wang S,Hu S

    更新日期:2003-09-01 00:00:00

  • Cycling and Tai Chi Chuan exercises exert greater immunomodulatory effect on surface antigen expression of human hepatitis B virus.

    abstract:BACKGROUND:Both athletes with intensive exercise and aged people may have weakened immunity against virus infection. This study aimed to evaluate whether people undergoing aerobic exercises including competitive cyclists with moderate training (CMT) and middle-aged people practicing Tai Chi Chuan (TCC) exercise have hi...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Chen YY,Chiang J,Chen YJ,Chen KT,Yang RS,Lin JG

    更新日期:2008-11-05 00:00:00

  • Acute Fatty Liver of Pregnancy: A Retrospective Analysis of 56 Cases.

    abstract:BACKGROUND:Acute fatty liver of pregnancy (AFLP) is a rare but life-threatening complication occurring in the third trimester. It is often fatal to both mother and fetus. The complicated clinical manifestations as well as an insufficient understanding of the disease make the precise diagnosis and effective treatment of...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.4103/0366-6999.181963

    authors: Zhang YP,Kong WQ,Zhou SP,Gong YH,Zhou R

    更新日期:2016-05-20 00:00:00

  • Triggering of toll-like receptors 2 and 4 by Aspergillus fumigatus conidia in immortalized human corneal epithelial cells to induce inflammatory cytokines.

    abstract:BACKGROUND:Cornea epithelial cells play early and crucial roles in the initiation of ocular surface responses to pathogens. Participation of toll-like receptor (TLR) 2 and TLR4, which are major forms of fungi receptors, may be involved in Aspergillus fumigatus induced immune responses. The objective of the present stud...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Zhao J,Wu XY

    更新日期:2008-03-05 00:00:00

  • Effect of endoscopic retrograde cholangiopancreatography combined with laparoscopy and choledochoscopy on the treatment of Mirizzi syndrome.

    abstract:BACKGROUND:Mirizzi syndrome is often difficult to diagnose before surgery, and is often accompanied by extensive adhesions in the cystohepatic (Calot's) triangle and the difficulty of separating tissue can lead to bile duct injury and other intraoperative and postoperative complications. The aim of this study is to inv...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Li B,Li X,Zhou WC,He MY,Meng WB,Zhang L,Li YM

    更新日期:2013-01-01 00:00:00

  • Performance and comparison of assessment models to predict 30-day mortality in patients with hospital-acquired pneumonia.

    abstract:BACKGROUND:Hospital-acquired pneumonia (HAP) is the most common hospital-acquired infection in China with substantial morbidity and mortality. But no specific risk assessment model has been well validated in patients with HAP. The aim of this study was to investigate the published risk assessment models that could pote...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.1097/CM9.0000000000001252

    authors: Wen JN,Li N,Guo CX,Shen N,He B

    更新日期:2020-12-03 00:00:00

  • Regulatory factor X5 promotes hepatocellular carcinoma progression by transactivating tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta and suppressing apoptosis.

    abstract:BACKGROUND:Our previous studies have shown that regulatory factor X5 (RFX5), a classical transcription regulator of MHCII genes, was obviously overexpressed in hepatocellular carcinoma (HCC) tumors. However, the role of RFX5 in the carcinogenesis and progress of HCC remains unknown. This study aimed to reveal its biolo...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.1097/CM9.0000000000000296

    authors: Chen DB,Zhao YJ,Wang XY,Liao WJ,Chen P,Deng KJ,Cong X,Fei R,Wu X,Shao QX,Wei L,Xie XW,Chen HS

    更新日期:2019-07-05 00:00:00

  • CD38- and Leu6-positive cells in dermal lesions of mycosis fungoides.

    abstract::The phenotypes of mononuclear cells in 16 patients with mycosis fungoides (MF) (8 were in tumor stage and 8 in pretumor stage) were tested by ABC immunochemical technique. The results showed that the percentage of CD38 and Leu6(+) cells in tumor stage was higher than that in pretumor stage. CD38 was identified to be a...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Liu JH,Zhang Q,Shi YF,Zeng XS,Wang XH,Li J,Chen Z,Shen DC

    更新日期:1993-05-01 00:00:00

  • The role of gut as a cytokine-generating organ in remote organ dysfunction after intestinal ischemia and reperfusion.

    abstract:OBJECTIVE:To test the hypothesis that in a rat model of acute intestinal ischemia/reperfusion injury, endotoxemia from the gastrointestinal tract would play a role in mediating tumor necrosis factor (TNF) response and remote organ dysfunction. METHODS:Wistar rats underwent 45 minutes of superior mesenteric artery occl...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Yao Y,Yu Y,Wu Y,Shi Z,Sheng Z

    更新日期:1998-06-01 00:00:00

  • Pancreatic and duodenal homeobox-1 in pancreatic ductal adenocarcinoma and diabetes mellitus.

    abstract::Diabetes mellitus and pancreatic ductal adenocarcinoma are two common diseases worldwidely which are both derived from different components of pancreas. The pancreatic and duodenal homeobox-1 (PDX1) is an essential transcription factor for the early development of pancreas that is required for the differentiation of a...

    journal_title:Chinese medical journal

    pub_type: 杂志文章,评审

    doi:10.1097/CM9.0000000000000628

    authors: Tang ZC,Chu Y,Tan YY,Li J,Gao S

    更新日期:2020-02-05 00:00:00

  • Effects of hepatocyte growth factor-mediated activation of Dll4-Notch-Hey2 signaling pathway.

    abstract:BACKGROUND:Hepatocyte growth factor (HGF) treats ischemic disease by promoting arteriogenesis, however, its mechanism of action is not known. The notch signaling pathway plays an important role in neovascularization. The relationship between the proliferation and migration ability of artery endothelial cells and the Dl...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Gao YF,Ha XQ,Lü TD,Han JP

    更新日期:2011-01-01 00:00:00

  • High mobility group box 1 protein: possible pathogenic link to atrial fibrillation.

    abstract::Atrial fibrillation (AF) is the most common sustained dysrhythmia in clinical practice. The bulk of evidence suggests that inflammatory processes, oxidative stress and matrix metalloproteinase are associated with development of AF. However, these agents may be involved in high mobility group box 1 protein (HMGB1). We ...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Hu XR,Wang XH,Liu HF,Zhou WJ,Jiang H

    更新日期:2012-07-01 00:00:00

  • Risk assessment and genomic characterization of Zika virus in China and its surrounding areas.

    abstract:BACKGROUND:Zika virus (ZIKV) has emerged as a global pathogen causing significant public health concerns. China has reported several imported cases where ZIKV were carried by travelers who frequently travel between China and ZIKV-endemic regions. To fully characterize the ZIKV strains isolated from the cases reported i...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.1097/CM9.0000000000000317

    authors: Liu RF,He ZJ,Mei P,Xi JC,Cao XD,Yuan LH,Lu JH

    更新日期:2019-07-20 00:00:00

  • Epidemiology of opportunistic invasive fungal infections in China: review of literature.

    abstract:OBJECTIVE:To summarize the recent findings on the epidemiology of medically important, opportunistic invasive fungal infections (IFIs) in China and discuss the relevant social, economical reasons and medical factors. DATA SOURCES:We performed a comprehensive search of both English and Chinese literatures of opportunis...

    journal_title:Chinese medical journal

    pub_type: 杂志文章,评审

    doi:

    authors: Liao Y,Chen M,Hartmann T,Yang RY,Liao WQ

    更新日期:2013-01-01 00:00:00

  • Association of Base Excision Repair Gene Polymorphisms with the Response to Chemotherapy in Advanced Non-Small Cell Lung Cancer.

    abstract:Background:Base excision repair (BER) plays an important role in the maintenance of genome integrity and anticancer drug resistance. This study aimed to explore the role of BER gene polymorphisms in response to chemotherapy for advanced non-small cell lung cancer (NSCLC) patients treated with platinum-based chemotherap...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.4103/0366-6999.238141

    authors: Dong J,Wang X,Yu Y,Yan X,Cui JW

    更新日期:2018-08-20 00:00:00

  • Cordocentesis: a useful method for prenatal diagnosis.

    abstract:OBJECTIVE:To evaluate the efficacy and safety of cordocentesis for prenatal diagnosis of various fetal diseases. PATIENTS AND METHODS:Fetal blood sampling was performed in 30 pregnancies from gestational week 19 to 36 for various prenatal diagnoses. We used Aloka SSD-650 real-time ultrasound scanner with 3.5 mHz curvi...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Xiang Y,Sun N,Chang X,Bian X,Wang F

    更新日期:1996-04-01 00:00:00

  • Effect of pulsed radiofrequency on rat sciatic nerve chronic constriction injury: a preliminary study.

    abstract:BACKGROUND:Pulsed radiofrequency (PRF) application to the dorsal root ganglia can reduce neuropathic pain (NP) in animal models, but the effect of PRF on damaged peripheral nerves has not been examined. We investigated the effect of PRF to the rat sciatic nerve (SN) on pain-related behavior and SN ultrastructure follow...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.4103/0366-6999.151113

    authors: Li DY,Meng L,Ji N,Luo F

    更新日期:2015-02-20 00:00:00

  • The relationship between apoptosis and spontaneous hypertension.

    abstract:OBJECTIVE:To explore the relationship between apoptosis and spontaneous hypertension, and the effect of angiotensin converting enzyme (ACE) inhibitor on apoptosis. METHODS:Male spontaneously hypertensive rats (SHR) and normotensive control rats (WKY) at different ages were used, meanwhile, the treatment of SHR with ra...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Peng L,Bradley CJ,Zulli A,Liu JJ

    更新日期:1999-06-01 00:00:00

  • Genomics-based Approach and Prognostic Stratification Significance of Gene Mutations in Intermediate-risk Acute Myeloid Leukemia.

    abstract:OBJECTIVE:Intermediate-risk acute myeloid leukemia (IR-AML), which accounts for a substantial number of AML cases, is highly heterogeneous. We systematically summarize the latest research progress on the significance of gene mutations for prognostic stratification of IR-AML. DATA SOURCES:We conducted a systemic search...

    journal_title:Chinese medical journal

    pub_type: 杂志文章,评审

    doi:10.4103/0366-6999.163400

    authors: Wang BH,Li YH,Yu L

    更新日期:2015-09-05 00:00:00

  • Treatment of gastric varices by endoscopic sclerotherapy using butyl cyanoacrylate: 10 years' experience of 635 cases.

    abstract:BACKGROUND:Gastric varices (GV) are life-threatening for patients with portal hypertension. Endoscopic injection with butyl cyanoacrylate (BC), the mainstay of the therapy for GV, has been reported to be effective for hemostasis of bleeding varices, but its efficacy in the obliteration of GV and impact on the survival ...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Cheng LF,Wang ZQ,Li CZ,Cai FC,Huang QY,Linghu EQ,Li W,Chai GJ,Sun GH,Mao YP,Wang YM,Li J,Gao P,Fan TY

    更新日期:2007-12-05 00:00:00

  • Nine-month angiographic and two-year clinical follow-up of novel biodegradable-polymer arsenic trioxide-eluting stent versus durable-polymer sirolimus-eluting stent for coronary artery disease.

    abstract:BACKGROUND:Despite great reduction of in-stent restenosis, first-generation drug-eluting stents (DESs) have increased the risk of late stent thrombosis due to delayed endothelialization. Arsenic trioxide, a natural substance that could inhibit cell proliferation and induce cell apoptosis, seems to be a promising surrog...

    journal_title:Chinese medical journal

    pub_type: 杂志文章,随机对照试验

    doi:10.4103/0366-6999.152490

    authors: Shen L,Yang W,Yin JS,Liu XB,Wu YZ,Sun AJ,Qian JY,Ge JB

    更新日期:2015-03-20 00:00:00

  • Thirty-day Postoperative Complications following Primary Total Knee Arthroplasty: A Retrospective Study of Incidence and Risk Factors at a Single Center in China.

    abstract:BACKGROUND:Total knee arthroplasty (TKA) may be associated with serious complications that adversely affect outcomes and increase the likelihood of disability. However, few studies with sufficient sample size have reported postoperative complications following TKA among Chinese patients. This study aimed to evaluate co...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:10.4103/0366-6999.213071

    authors: Feng B,Lin J,Jin J,Qian WW,Wang W,Weng XS

    更新日期:2017-11-05 00:00:00

  • Involvement of delta-and mu-opioid receptors in the delayed cerebral ischemic tolerance induced by repeated electroacupuncture preconditioning in rats.

    abstract:BACKGROUND:Preconditioning with repeated electroacupuncture (EA) could mimic ischemic preconditioning to induce cerebral ischemic tolerance in rats. The present study was designed to investigate whether mu (micro)-, delta (delta)- or kappa (kappa)-opioid receptors are involved in the neuroprotection induced by repeated...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Xiong LZ,Yang J,Wang Q,Lu ZH

    更新日期:2007-03-05 00:00:00

  • Relationship between coronary artery remodeling and cumulative incidence of coronary angiographic lesions with vulnerable characteristics in patients with stable angina pectoris.

    abstract:BACKGROUND:Development of vulnerable lesions is not limited to the target lesions, but a pan-coronary process. Such lesions are identified by positive remodeling (intravascular ultrasound (IVUS) and complex lesions (angiography)). The prevalence of lesions with vulnerable characteristics in patients with stable angina ...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Sun L,Lü SZ,Jin ZN,Song XT

    更新日期:2010-04-05 00:00:00

  • Osteoclastic resorption of Haversian systems in cortical bone of femoral neck in aged women. A scanning electron microscopic study.

    abstract:OBJECTIVE:To reveal the sequence of events of osteoclastic resorption taking place in the cortical bone of the femoral neck in aged women. MATERIAL AND METHODS:The cross sections of cortical bones of the femoral neck from 7 aged women who underwent endoprosthetic replacement for intracapsular hip fracture, were proces...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Chai B,Tang X,Li H

    更新日期:1996-09-01 00:00:00

  • Optimal time to use low molecular weight heparin on prethrombotic state of rat chronic obstructive pulmonary disease model.

    abstract:BACKGROUND:Low molecular weight heparin (LMWH), as one of anticoagulant drugs, has been used for the treatment of chronic obstructive pulmonary disease (COPD) with prethrombotic state, but the specific use time is unclear. The aim of the study is to observe the effect of LMWH at two different periods of prethrombotic s...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Wang Y,Sun N,Cheng Z,Tong L

    更新日期:2014-01-01 00:00:00

  • Carpal instability associated with fracture of the distal radius. Incidence, influencing factors and pathomechanics.

    abstract::134 fractures of the distal radius in 132 patients are reviewed to determine the incidence and influencing factors of coexisting carpal in stability. By measurement and analysis of the changes in carpal angles and joint spaces, carpal instability was discovered in 41 fractures, an incidence of 30.6%. Six patterns of i...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Tang JB

    更新日期:1992-09-01 00:00:00

  • Clinical experience of surgical intervention for severe acute pancreatitis.

    abstract:BACKGROUND:The controversy on the treatment strategy for severe acute pancreatitis (SAP) has never stopped for the past century. Even now surgical procedures play a decisive role in the treatment of SAP, especially in managing the related complications, but the rational indications, timing, and approaches of surgical i...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Xu Y,Shao Q,Yang J,Yu X,Xu J

    更新日期:2014-01-01 00:00:00

  • Mechanisms of selective head cooling for resuscitating damaged neurons during post-ischemic reperfusion.

    abstract:OBJECTIVE:To evaluate the efficacy and the mechanism of application of selective head cooling on neuronal morphological damage during postischemic reperfusion in a rabbit model. METHODS:168 New Zealand rabbits were randomized into three groups. Group I [n = 24, (38 +/- 0.5) degrees C, non-ischemic control]; Group II [...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Duan M,Li D,Xu J

    更新日期:2002-01-01 00:00:00

  • Congenital choledochal cyst with pancreatitis.

    abstract:OBJECTIVE:To understand the relationship among congenital choledochal cyst, anomalous junction of pancreaticobiliary duct (AJPBD) and pancreatitis. METHODS:25 children with choledochal cyst treated in our hospital were included in this study. Their ages ranged from 2 months to 14 years. Intraoperative cholangiography ...

    journal_title:Chinese medical journal

    pub_type: 杂志文章

    doi:

    authors: Zhao L,Li Z,Ma H,Zhang X,Mou X,Zhang D,Lin W,Niu A

    更新日期:1999-07-01 00:00:00