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Tag: Genetics

ABCG2 Q141K (rs2231142) is associated with gout risk

Meta-Analysis: ABCG2 Q141K Polymorphism Tied to Gout Risk

T allele linked to increased gout risk; association affected by gender, ethnicity
Incorporation of a genetic risk score can improve the accuracy of colorectal cancer risk determination

Model Including CRC Risk Alleles Ups Risk Discrimination

Model more accurately determines risk of colorectal cancer; defines recommended screening age
The first genetic marker to predict response to pembrolizumab (Keytruda) has been identified by researchers

ASCO: MMR Deficiency Predicts Pembrolizumab Response

Findings may help doctors better choose patients to receive pembrolizumab (Keytruda)
Copy number variations correlate with phenotypes such as intellectual disability in the general population

Genetic Variants Linked to Educational Attainment

CNVs linked to lower education attainment in geographically distinct unselected populations
Many patients with cancer are interested in comprehensive tumor genetic profiling (CGP)

ASCO: Many Cancer Patients Interested in Genetic Profiling

Two-thirds of patients feel that tumor profiling could improve their treatment; many will pay out of pocket
Resistance training seems to be most effective for people with a low genetic risk for a high body mass index

Resistance Training Effects Vary Per Genetic Profiles

Not as effective in women with high risk for obesity
Hemizygous testis-expressed 11 gene mutations can cause meiotic arrest and azoospermia

X-Linked TEX11 Mutations Identified in Azoospermia

Mutations in TEX11 occur in some men with azoospermia with meiotic arrest
When the seasons change

Some Gene Activity Differs Depending on Season

Altered activity could explain why some diseases are worse in some months than others
Post-traumatic stress disorder seems to be associated with premature aging

PTSD Associated With Premature Senescence

Evidence of reduced leukocyte telomere length, increased pro-inflammatory markers
Use of a next-generation sequencing panel including genes associated with highly penetrant colorectal cancer and polyposis (CRCP) syndromes is cost-effective for CRCP diagnosis

Next-Generation Sequencing Panel Cost-Effective for CRC

Panel including genes linked to highly penetrant CRC and polyposis syndromes seems cost-effective