MGMT germline polymorphism is associated with somatic MGMT promoter methylation and gene silencing in colorectal cancer

jiangyun submitted, created time 1 year 4 months (carcin.oxfordjournals.org)

O-6-methylguanine-DNA methyltransferase (MGMT) repairs inappropriately methylated guanine residues in DNA. MGMT promoter methylation and gene silencing are common events in colorectal cancer, and may or may not coexist with the CpG island methylator phenotype (CIMP).

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Genome-wide detection of recurring sites of uniparental disomy in follicular and transformed follicular lymphoma

angelfish submitted, created time 1 year 5 months (www.nature.com)

"Single-nucleotide polymorphism (SNP) array analysis was performed using the 10K GeneChip array on a series of 26 paired follicular lymphoma (FL) and transformed-FL (t-FL) biopsies and the lymphoma cell lines SCI-1, DoHH2 and RL2261. Regions of acquired homozygosity were detected in 43/52 (83%) primary specimens with a mean of 1.7 and 3.0 aberrations in the FL and t-FL, respectively. A notable feature was the occurrence of recurring sites of acquired uniparental disomy (aUDP) on 6p, 9p, 12q and 17p in cell lines and primary samples

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Human population structure detection via multilocus genotype clustering

angelfish submitted, created time 1 year 6 months (www.biomedcentral.com)

"he algorithm provides an alternative approach to the popular STRUCTURE program, especially for fine-scale population structure detection in . This is the first successful separation of Chinese and Japanese samples using random loci with high statistical support."

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Genome-wide search unearths surprising clues for diabetes and triglycerides

BIOBOSS submitted, created time 1 year 8 months (www.eurekalert.org)

Scientists from the Broad Institute of Harvard and MIT, Lund University and Novartis today announced the discovery of three unsuspected regions of human DNA that contain clear genetic risk factors for type 2 diabetes, and another that is associated with elevated blood triglycerides. The study is among the first to apply a suite of genomic resources to clinical research, including the Human Genome Project, the SNP and HapMap Projects, and genome-scale laboratory and analytical tools.

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Recent human effective population size estimated from linkage disequilibrium

DanyC submitted, created time 1 year 9 months (www.genome.org)

"Effective population size (Ne) determines the amount of genetic variation, genetic drift, and linkage disequilibrium (LD) in populations. Here, They present the first genome-wide estimates of human effective population size from LD data. Chromosome-specific effective population size was estimated for all autosomes and the X chromosome from estimated LD between SNP pairs

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European Population Substructure: Clustering of Northern and Southern Populations

technology submitted, created time 1 year 10 months (genetics.plosjournals.org)

"Using a genome-wide single nucleotide polymorphism (SNP) panel, the team observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between “northern” and “southern” European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the “southern” population; and most northern, western, eastern, and central Europeans have >90% in the “northern” population group

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