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[PDF] Top 20 Functional single nucleotide polymorphism-based association studies

Has 10000 "Functional single nucleotide polymorphism-based association studies" found on our website. Below are the top 20 most common "Functional single nucleotide polymorphism-based association studies".

Functional single nucleotide polymorphism-based association studies

Functional single nucleotide polymorphism-based association studies

... Association studies hold great promise for the elucidation of the genetic basis of ...diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on ... See full document

12

Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740

Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740

... Similarly to the majority of SNPs that have been found to be associated with human complex diseases and traits in genome-wide association studies, rs1835740 is located between two genes (AEG1 and PGCP). ... See full document

19

Association of Osteopontin Gene Single Nucleotide Polymorphism 
with Systemic Lupus Erythematosus.

Association of Osteopontin Gene Single Nucleotide Polymorphism with Systemic Lupus Erythematosus.

... disease and is characterized by the presence of autoantibodies which target self antigens. SLE is commoner in women than men by nearly ten times, and is typically seen in women of child- bearing age 1 .Genome screening ... See full document

139

Detecting single nucleotide polymorphism by single nucleotide polymorphism interactions in rheumatoid arthritis using a two step approach with machine learning and a Bayesian threshold least absolute shrinkage and selection operator (LASSO) model

Detecting single nucleotide polymorphism by single nucleotide polymorphism interactions in rheumatoid arthritis using a two step approach with machine learning and a Bayesian threshold least absolute shrinkage and selection operator (LASSO) model

... and association studies have already identified a genomic region in chromosome 6 (the HLA ...tion studies (GWAS) of diseases and complex traits have become a major focus of research in human ... See full document

5

Genetic evidence linking lung cancer and COPD: a new perspective

Genetic evidence linking lung cancer and COPD: a new perspective

... Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD) and lung ...Epidemiological studies show that COPD is the ... See full document

13

NME8 rs2718058 polymorphism with Alzheimer’s disease risk: a replication and meta-analysis

NME8 rs2718058 polymorphism with Alzheimer’s disease risk: a replication and meta-analysis

... wide association studies (GWAS) has identified that a novel single nucleotide polymorphism (SNP) rs2718058, adjacent to gene NME8 on chromosome ...rs2718058 polymorphism between ... See full document

7

Association between single nucleotide polymorphisms in AKT1 and the risk of prostate cancer in the Chinese Han population.

Association between single nucleotide polymorphisms in AKT1 and the risk of prostate cancer in the Chinese Han population.

... of polymorphism rs3730358 in control individuals did not follow the Hardy-Weinberg ...final association analysis (Schaid and Jacobsen, ...More studies focused on the function of this SNP are required ... See full document

9

Comparison of tagging single nucleotide polymorphism methods in association analyses

Comparison of tagging single nucleotide polymorphism methods in association analyses

... tagging single-nucleotide polymorphisms (SNPs) are in common use for genetic epidemiologic studies; however, there may be loss of information when using only a subset of ...detect single-SNP ... See full document

9

Structural and Functional Apple Genomics and its Application in Breeding

Structural and Functional Apple Genomics and its Application in Breeding

... genome studies. New generation sequencing allowed single nucleotide polymorphism (SNP) chip technologies for genotyping, description of functional apple genes, characterization of the ... See full document

7

Association of single nucleotide polymorphism rs6983267 with the risk of prostate cancer

Association of single nucleotide polymorphism rs6983267 with the risk of prostate cancer

... relevant studies. Full-text articles of these studies were then read to select eligible ...studies. Studies were included in the meta-analysis if (1) they were case-control studies, (2) ... See full document

7

Functional Characterization of the OPRM1 A118G Single Nucleotide Polymorphism in Mice

Functional Characterization of the OPRM1 A118G Single Nucleotide Polymorphism in Mice

... Most studies to date have examined the functional consequences of this SNP in vitro using various cell culture ...Initial studies identified an elevated binding affinity of #-endorphin, but not ... See full document

140

Association between single nucleotide polymorphism rs9534275 and the risk of coronary artery disease and ischemic stroke

Association between single nucleotide polymorphism rs9534275 and the risk of coronary artery disease and ischemic stroke

... previous studies have shown that the BRCA2 rs9534275 may have an effect on TC, low-density lipoprotein choles- terol (LDL-C), and serum lipid levels might have eth- nic- and/or sex-specificity [12, ... See full document

9

Association of Catechol-O-methyltransferase single nucleotide polymorphisms, ethnicity, and sex in a large cohort of fibromyalgia patients

Association of Catechol-O-methyltransferase single nucleotide polymorphisms, ethnicity, and sex in a large cohort of fibromyalgia patients

... the association between COMT and fibromyalgia have largely focused on a single functional polymorphism, rs4680 or val 158 met , [17, 18, 21] which reduces enzymatic activity by 3- to 4-fold, ... See full document

9

Finding type 2 diabetes causal single nucleotide polymorphism combinations and functional modules from genome-wide association data

Finding type 2 diabetes causal single nucleotide polymorphism combinations and functional modules from genome-wide association data

... and functional module levels gives clues to the relationship with ...T2D. Functional module-based filtration is also tested using T2D associated functional modules from genome-wide SNPs and ... See full document

11

Association of PTPN22 1858 single nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients

Association of PTPN22 1858 single nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients

... pathogenesis. Studies on twins have shown concordance rates between 12% and 15% in monozygotic twins compared to 4% in dizygotic twins ...Calculations based on these data have estimated an over- all ... See full document

7

The association of C3435T single-nucleotide polymorphism, Pgp-glycoprotein gene expression levels and carbamazepine maintenance dose in patients with epilepsy

The association of C3435T single-nucleotide polymorphism, Pgp-glycoprotein gene expression levels and carbamazepine maintenance dose in patients with epilepsy

... We evaluated the influence of the C3435T as a predictive factor for the efficacy of the CBZ therapy in patients with epilepsy. Our study demonstrated no differences in allele frequency and genotype distribution between ... See full document

6

Single nucleotide polymorphism of the lactoferrin gene and its association with milk production and reproduction traits in Iranian Holstein cattle

Single nucleotide polymorphism of the lactoferrin gene and its association with milk production and reproduction traits in Iranian Holstein cattle

... The SNP in the sixth intron of bovine LTF gene was first discovered by Seyfert and Kuhn (1994). The re- searchers found two alleles, A and B, which encoded three possible genotypes (AA, AB and BB). In our study, two ... See full document

6

Association of the Single Nucleotide Polymorphism and Haplotype of the Complement Receptor 1 Gene with Malaria

Association of the Single Nucleotide Polymorphism and Haplotype of the Complement Receptor 1 Gene with Malaria

... As a Complete membrane protein, CR1 mainly found on red blood cells, lymphocytes, macrophages, follicular den- dritic cells, macrophages, and kidney podocytes, and so on. Some of functions were found on CR1, including to ... See full document

8

Association of arterial stiffness with single nucleotide polymorphism rs1333049 and metabolic risk factors

Association of arterial stiffness with single nucleotide polymorphism rs1333049 and metabolic risk factors

... aforementioned association, we found increased aortic stiffness in subjects homozygous for the C-allele of rs 1333049 on chromosome ...Previous studies have sug- gested that the chromosome 9p21 locus ... See full document

8

Association of MMP 9-1562 C/T Single Nucleotide Polymorphism with the Susceptibility to Lung Cancer Disease in South Iranian Population

Association of MMP 9-1562 C/T Single Nucleotide Polymorphism with the Susceptibility to Lung Cancer Disease in South Iranian Population

... process disease, several genes and environmental factors affect cancer development [4,13- 16]. The identification of patients at risk in the early stages is very important for the better inhibition of the cancer cells ... See full document

9

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