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Genome-wide Association Studies-GWAS01:11

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Polygenic Risk Score Modifies Prostate Cancer Risk of Pathogenic Variants in Men of African Ancestry.

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Area of Science:

  • Genetics
  • Oncology
  • Epidemiology

Background:

  • Prostate cancer risk is influenced by both rare and common genetic variants.
  • Understanding the interplay of these variants is crucial for accurate risk prediction, especially in diverse populations.

Purpose of the Study:

  • To examine the combined effect of rare germline variants (in ATM, BRCA2, PALB2, NBN) and polygenic risk scores (PRS) on prostate cancer risk.
  • To assess the association of these genetic factors with overall and metastatic prostate cancer in men of African ancestry.

Main Methods:

  • A case-control study involving 1,796 prostate cancer cases (222 metastatic) and 1,424 controls of African ancestry.
  • Analysis of aggregate associations of rare pathogenic/likely pathogenic/deleterious (P/LP/D) variants with PRS.
  • Calculation of Odds Ratios (ORs) and lifetime absolute risks for different genetic risk strata.

Main Results:

  • Men with high PRS had significantly increased odds of overall and metastatic prostate cancer, particularly among carriers of rare P/LP/D variants.
  • Lifetime absolute risks for prostate cancer increased substantially with PRS, ranging from 9.8% to 51.5% for carriers and 5.5% to 23.9% for non-carriers.
  • The study found that PRS status should be included when assessing prostate cancer risk for individuals carrying rare variants.

Conclusions:

  • Rare germline variants and PRS collectively modify prostate cancer risk in men of African ancestry.
  • Comprehensive risk assessment should integrate information from both rare variant carriers and PRS.
  • These findings underscore the importance of genetic factors in understanding prostate cancer disparities.