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BACKGROUND: Although the mechanism of femoral head necrosis has a series of explanations such as glucocorticoids, ethanol, decompression sickness, sickle cell anemia, and genetic susceptibility, the specific pathogenesis is still unclear. OBJECTIVE: To highlight the genetics of non-traumatic femoral head necrosis by combining recent genetic studies, thus providing new treatments for the repair and reconstruction of femoral head. METHODS: A computer-based online retrieval of CNKI, WanFang, PubMed and Web of Science databases was performed to search the related articles published from January 2000 to April 2019. The keywords were “non-traumatic femoral head necrosis, susceptibility genes, pathogenesis” in Chinese and English, respectively. According to the inclusion and exclusion criteria, the irrelevant and repetitive articles were excluded, and finally 49 eligible articles were included for analysis. RESULTS AND CONCLUSION: Non-traumatic femoral head necrosis is an extremely complex disease whose pathogenesis is caused by a combination of factors rather than a single genetic gene. COL2A1 genetic mutation is the high susceptibility gene to non-traumatic femoral head necrosis. High-coagulation and low-fibrinolytic state-related loci in the blood, interleukin-related gene loci in immune system and lipid-related loci become more and more important in inducing non-traumatic femoral head necrosis. With the deep understanding of human genetic technology, the accuracy of detecting susceptible genes will be continuously improved, which is conducive to the prevention, diagnosis and precise individualized treatment of non-traumatic femoral head necrosis.
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Currently,the worldwide frequency of catastrophic e-vents has made post-traumatic stress disorder (PTSD)a major public health problem.As a stress-related psychiatric disorder, PTSD is considered as the result of interaction between gene and environments (especially early life adversity).The epigenetics plays an important role in PTSD pathogenesis.Due to the core role of hypothalamic-pituitary-adrenal (HPA)axis,the research on the relationship between HPA axis epigenetics and PTSD pathogenesis in recent years was reviewed in the paper so as to provide references and thinking of the prevention and therapy for PTSD in the future.
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Non-syndromic cleft lip with or without cleft palate is a common birth defect with complex causes,now widely considered as the result of interactions between genetic and environmental factors.Susceptible genes of congenital cleft lip with or without cleft palate have become a focus since the whole genome sequencing was available.Numerous candidate genes which were screened out are being constantly validated by gene polymorphism detection,case-control study and meta analysis.But the results are inconsistent.In this article,we review the research progress on susceptible genes of non-syndromic cleft lip with or without cleft palate and the relationship between environmental factors and cleft lip with or without palate in recent years.
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@# Objective To clarify the role of the known genes and new discovered genes, which were important to the pathogenesis of Alzheimer's disease (AD), in order to provide targets for clinical prevention, diagnosis and treatment. Methods In order to predict AD susceptible genes, the website databases (OMIM, AlzGene) and a variety of pathogenic gene prediction tools such as Endeavour, Gene Prospector, GLAD4U and ProphNet were used to make biological analysis. Results Disease-causing genes were directly obtained from the OMIM and Alzgene databases, and related genes were collected by 4 kinds of tools (select gene whose frequency was 3 or more). The data were shared and a list of 25 genes was gotten. These genes were CALHM1、 ABCA7、 A2M、 CLU、 SORL1、 HFE、 CD2AP、 APP、 ACE、 PICALM、 APOE、 NOS3、 MS4A6A、 PLD3、 CR1、 ADAM10、 MS4A4E、 BLMH、 PSEN1、 CD33、 PSEN2、 MPO、 APBB2、 BIN1 and PLAU. Conclusion CALHM1, ABCA7, A2M and CLU, etc., have a certain correlation with AD, which provide theoretical basis for further research of AD genics and clinical treatment.
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Objective To clarify the role of the known genes and new discovered genes, which were important to the pathogenesis of Al-zheimer's disease (AD), in order to provide targets for clinical prevention, diagnosis and treatment. Methods In order to predict AD suscepti-ble genes, the website databases (OMIM, AlzGene) and a variety of pathogenic gene prediction tools such as Endeavour, Gene Prospector, GLAD4U and ProphNet were used to make biological analysis. Results Disease-causing genes were directly obtained from the OMIM and Alzgene databases, and related genes were collected by 4 kinds of tools (select gene whose frequency was 3 or more). The data were shared and a list of 25 genes was gotten. These genes were CALHM1、ABCA7、A2M、CLU、SORL1、HFE、CD2AP、APP、ACE、PICALM、APOE、NOS3、MS4A6A、PLD3、CR1、ADAM10、MS4A4E、BLMH、PSEN1、CD33、PSEN2、MPO、APBB2、BIN1 and PLAU. Conclusion CALHM1, ABCA7, A2M and CLU, etc., have a certain correlation with AD, which provide theoretical basis for further research of AD genics and clinical treatment.
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10.3969/j.issn.1000-3606.2013.06.014
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Dementia is the progressive or chronic dysfunction of cortical or subcortical functions that results in complex cognitive decline and Alzheimer's disease is the most common etiology of dementia. Currently, causal genetic mutations such as amyloid precursor protein, presenilin 1, presenilin 2 in familial Alzheimer's disease and many susceptible genes including polymorphysm of apolipoprotein E have been reported. Furthermore, genetic testings are available in person at risk for Alzheimer's disease. However, besides from results of genetic testing, there are many issues such as economics, ethics, psychological and legal. So clinician should be considered these complexities before ordering genetic test for patients with/without Alzheimer's disease.
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Humans , Alzheimer Disease , Amyloid , Apolipoproteins , Dementia , Genetic Testing , Presenilin-1 , Presenilin-2ABSTRACT
Individual susceptibility to cancers may result from several factors including differences in xenobiotics metabolism, DNA repair, altered oncogenes and suppressor genes, and environmental carcinogen exposures. To determine the frequencies of the genotypes of phase I (CYP1A1 and CYP2E1) and phase II (GSTM1 and NAT2) metabolizing enzymes and to identify the high-risk genotypes of these metabolic enzymes to colon cancer in Korean, we have analyzed 113 colorectal cancer patients and corresponding age and sex matched healthy controls using polymerase chain reaction-restriction fragment length polymorphi(PCR-RFLP). In analysis of phase I enzymes, m1/m2, m2/m2 and Val/Val genotypes in CYP1A1 enzyme polymorphisms and C1/C2 genotype in CYP2E1 polymorphism were associated with high relative risks to colorectal cancers (Odds ratio; 1.51, 1.59, 1.76 and 1.38, respectively). Among the phase II enzymes polymorphisms, GSTM (-) genotype of GSTM1 enzyme and slow acetylator (S/S) of NAT2 enzyme had 1.48 and 1.34 times of relative risks to colorectal cancers, respectively. In combined genotyping of phase I enzymes and GSTM1 polymorphisms, the patients with m1/m2 and GSTM (-), Val/Val and GSTM (-), and C1/C2 and GSTM (-) combined genotypes had higher relative risk than the patients with each baseline of combined genotypes (Odds ratio; 2.15, 5.81 and 2.20, respectively). In combined genotyping of phase I enzyme and NAT2 polymorphisms, the combined genotypes of m1/m2 with slow acetylator and C1/C2 with slow acetylator were more susceptible to colorectal cancer (Odds ratio; 3.5 and 4.5, respectively). These results suggest that the combined genotypes of Val/Val and GSTM (-), m1/m2 and slow acetylator, and C1/C2 and slow acetylator were more susceptible to colorectal cancer in Korean. And genotyping of xenobiotics metabolizing enzymes could be useful for predicting an individual susceptibility to colorectal cancer.
Subject(s)
Humans , Colonic Neoplasms , Colorectal Neoplasms , Cytochrome P-450 CYP1A1 , Cytochrome P-450 CYP2E1 , DNA Repair , Genes, Suppressor , Genotype , Korea , Metabolism , Oncogenes , Polymorphism, Genetic , XenobioticsABSTRACT
0.05). Conclusion The assumable reasons for the dominance of heterozygous ADH2 genotype were a relatively small size of samples or gene mutation etc,which needed further researches to be confirmed.The proportion of individuals carrying about "susceptible genotypes of alcohol_related diseases"in female child_bearing ages was more than one half (0.617),which called on the reinforce of the surveillance on and prevention of alcohol_related birth (ARBD).