Genetics

Reports of high-impact genetics studies by medical professionals

Genetic and non-genetic risk factors associated with pediatric celiac disease [TEDDY study]

1. Children with the HLA haplotype DR3-DQ2 were at a higher risk for developing celiac disease autoimmunity and celiac disease by 5 years of...

Whole exome sequencing effective at identifying mitochondrial pathogenic mutations

1. The genomic basis of mitochondrial disease is often abstruse and multifactorial.  2. Whole-exome sequencing was able to pinpoint previously unidentifiable mutations.  Evidence Rating Level: 2...

Genetic and environmental factors linked with sagging eyelids

1. Age, male sex, lighter skin color, and high BMI were found to be risk factors for sagging eyelids.  2. The C allele of rs11876749...

Genetic variant linked to poor patient survival following lung transplantation

Image: PD  1. A specific TT-genotype variant that encodes the immunoglobulin gamma (IgG) receptor was associated with increased patient mortality post lung transplantation.  2. Patient risk...

Genetic variations may predict outcomes for colorectal cancer patients

Image: PD  1. Single nucleotide polymorphisms (SNPs) in LKB1, AMPK, and TSC1 genes were identified as predictive of decreased patient survival.  2. A greater number of...

HLA-DRB1*07:01 confirmed as risk factor for lapatinib-induced liver damage

Image: PD 1. HLA-DRB1*07:01 and HLA-DQA1*02:01 are strongly associated with liver injury among patients with HER2+ primary breast cancer taking lapatinib. Evidence Rating Level: 1 (Excellent) Study...

2 Minute Medicine Rewind March 10 – 17, 2014

Image: PD In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Idelalisib and Rituximab in...

Whole genome sequencing not yet practical for the clinical setting

Image: PD  1. Between 10% to 19% of genes associated with inherited disease were not covered at a minimum standard for genetic variant discovery.  2. Follow...

DNA methylation associated with higher body-mass index

Image: PD  1. DNA methylation at three sites within the intron of the gene HIF3A on chromosome 19 was associated with higher BMI levels.  Evidence Rating...

2 Minute Medicine Rewind February 24th – March 2nd, 2014

In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Prevalence of Childhood and Adult...

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