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冠心病遗传学研究的知识发现

已有 1991 次阅读 2014-6-27 07:29 |个人分类:知识发现|系统分类:科研笔记

最新研究进展

载脂蛋白C3(APOC3)能增加血液中的甘油三酯水平,而后者能导致冠心病患病风险增加。6月18日发表在新英格兰医学杂志(NEJM)上的两项研究,均指出了APOC3基因的变异不仅能降低甘油三酯浓度,而且还能减少心脏疾病的患病风险。

“在医学院的时候,老师告诉我们要重点关注高密度脂蛋白,而不是甘油三酯,”加州大学旧金山分校医学院的一位副教授Ethan Weiss表示,“但是研究表明,我们可能弄错了,甘油三酯也许更为重要。”

在第一篇文章中,研究人员完成了一项规模超过110000人的研究,其中相比于没有发生基因突变的参与者,498 位参与者的APOC3 基因发生了功能突变,他们中有40%为冠心病患者。

NEJM:心脏病的关键遗传突变

http://www.bio360.net/news/show/10677.html

科研思路来自科研实践、来自文献信息、来自同行交流。

     科研思路和科研选题也可以来自知识发现,在我的博客“知识发现栏目”http://blog.sciencenet.cn/home.php?mod=space&uid=280034&do=blog&classid=115378&view=me&from=space有大量的科学研究知识发现的实例和分析,知识发现只提供非相关文献中的隐含知识概念,对于扩大科研人员的研究思路、进行科研选题很有意义,这些知识点可能对科研工作有所启发,获得新的科研视角和思路,但还需要科研人员进行科学验证。

知识发现与科学发现  http://blog.sciencenet.cn/blog-280034-713521.html

     这里可以看到自1986年以来,国外情报专家的很多知识发现,被科研人员得到了证实。但我国的科研人员对知识发现的方法和应用不太熟悉,还没有很好地利用这种知识挖掘和信息分析的好方法。

知识发现平台 http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi

A-query: Coronary Disease
C-query: APOC3

The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 51 articles appeared in both literatures and were not included in the process of computing the B-list but can be viewed here. The results of this search are saved under id # 19055 and can be accessed from the start page after you leave this session. There are 180 terms on the current B-list (62 are predicted to be relevant), which is shown ranked according to predicted relevance. The list can be further trimmed down using the filters listed in the left margin.

To assess whether there appears to be a biologically significant relationship between the AB and BC literatures for specific B-terms, please select one or more B-terms and then click the button to view the corresponding AB and BC literatures. Use Ctrl to select multiple B-terms.

job id # 19055 started Thu Jun 26 18:14:37 2014
Max_citations: 50000
Stoplist: /var/www/arrowsmith_uic/data/stopwords_pubmed
Ngram_max: 3
A_query_raw: Coronary DiseaseThu Jun 26 18:14:48 2014

A query = Coronary Disease started Thu Jun 26 18:14:48 2014
A query resulted in 50000 titles
C_query_raw: Coronary Disease Thu Jun 26 18:15:16 2014

C: Coronary Disease 257209

A: pubmed_query_A 257209

AC: ( Coronary Disease ) AND ( Coronary Disease ) 257209

C_query_raw: APOC3 Thu Jun 26 18:15:28 2014

C: APOC3 265

A: pubmed_query_A 257209

AC: ( Coronary Disease ) AND ( APOC3 ) 51

C_query_raw: APOC3 Thu Jun 26 18:15:34 2014

C: APOC3 265

A: pubmed_query_A 257209

AC: ( Coronary Disease ) AND ( APOC3 ) 51

C query = APOC3 started Thu Jun 26 18:15:35 2014
C query resulted in 265 titles
A AND C query resulted in 51 titles
1545 B-terms ready on Thu Jun 26 18:21:48 2014

Sem_filter:
Genes & Molecular Sequences, and Gene & Protein Names
180 B-terms left after filter executed Thu Jun 26 18:24:13 2014

B-list on Thu Jun 26 18:30:32 2014
1 promoter polymorphism
2 hdl
3 metabolic syndrome
4 apolipoprotein e
5 mthfr
6 apolipoprotein a
7 apoa5
8 single nucleotide polymorphism
9 gene promoter polymorphism
10 vntr
11 pon1
12 lipc
13 han
14 promoter region polymorphism
15 ldl
16 usf1
17 ppar alpha
18 cetp
19 gene promoter
20 gene atherosclerosis
21 hypercholesterolemia
22 apoe
23 ppar
24 exon
25 hyperinsulinemia
26 hiv
27 a5 gene
28 diabetes mellitus
29 snp
30 pparalpha
31 triglyceride level
32 gene cluster
33 apolipoprotein c
34 candidate gene
35 triglyceride
36 promoter region
37 hdl cholesterol level
38 vldl
39 av
40 obese
41 gckr
42 diabetic nephropathy
43 atherosclerosis
44 apolipoprotein gene
45 diabetes
46 promoter variant
47 il6
48 apoa1
49 obesity
50 apolipoprotein gene cluster
51 hyperlipidemia
52 myocardial infarction
53 ltq
54 gene chromosome
55 apob
56 promoter activity
57 alu
58 apoc1
59 ppara
60 fat
61 locus
62 transcription factor

AB literature


B-term


BC literature


Coronary Diseaseapoa5APOC3
1: Association of APOA5 -1131T>C Polymorphism and Serum Lipid Levels in Patients with Type 2 Diabetes. 2013
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2: Mutation Screening of the APOA5 Gene in Subjects With Coronary Artery Disease. 2012
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3: Association of PON1 and APOA5 Gene Polymorphisms in a Cohort of Indian Patients Having Coronary Artery Disease With and Without Type 2 Diabetes. 2011
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4: Relationship of APOA5, PPAR gamma and HL gene variants with serial changes in childhood body mass index and coronary artery disease risk factors in young adulthood. 2011
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5: Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. 2011
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6: Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis. 2010
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7: The polymorphisms -1131T>C and the S19W of the APOA5 gene are not associated with coronary artery disease in a Brazilian population. 2010
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8: The influence of the S19W SNP of the APOA5 gene on triglyceride levels in southern Brazil: Interactions with the APOE gene, sex and menopause status. 2010
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9: Interactions between the APOA5 -1131T>C and the FEN1 10154G>T polymorphisms on omega6 polyunsaturated fatty acids in serum phospholipids and coronary artery disease. 2010
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10:APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chinese population: a meta-analysis. 2010
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1: Significant association of APOA5 and APOC3 gene polymorphisms with meat quality traits in Kele pigs. 2013
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2: Association Between Polymorphisms in MTHFR and APOA5 and Metabolic Syndrome in the Greek Population. 2011
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3:APOA5 gene expression in the human intestinal tissue and its response to in vitro exposure to fatty acid and fibrate. 2011
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4: Association of APOA5 and APOC3 gene polymorphisms with plasma apolipoprotein A5 level in patients with metabolic syndrome. 2010
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5: Allelic variation in ApoC3, ApoA5 and LPL genes and first and second generation antipsychotic effects on serum lipids in patients with schizophrenia. 2008
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6: Evolutionary rate heterogeneity of Alu repeats upstream of the APOA5 gene: do they regulate APOA5 expression? 2008
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7: The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides. 2008
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8: The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes. 2007
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9: Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders. 2007
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10: Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study. 2006
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11: Determination of the functionality of common APOA5 polymorphisms. 2005
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12: Contribution of APOA5 gene variants to plasma triglyceride determination and to the responseto both fat and glucose tolerance challenges. 2003
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