| RESEARCH HIGHLIGHTS |
Patterns of repetition in DNA could be associated with the risk of developing kidney inflammation.
Genomics
COPY THAT? THE GENETICS OF KIDNEY FAILURE
GENETIC REPETITIONS DETERMINE THE RISK OF DEVELOPING A COMMON KIDNEY DISEASE
Counting the number of times a string of letters appears in the genome could bring us closer to predicting kidney failure, suggests an international team of researchers1. They found that fewer copies of a gene which produces an important defense protein increases a person’s risk of developing a common form of kidney inflammation. The findings could help explain why Chinese
people are more susceptible to the condition known as immunoglobulin A nephropathy (IgAN). “Chinese populations have the highest prevalence of IgAN in the world,” says Jianjun
www.astar-research.com
Liu, who led the study at the A*STAR Genome Institute of Singapore. “IgAN is a leading cause of kidney disease in this population.” Several genome-wide association studies
have been conducted to identify single-nu- cleotide variations associated with the risk of developing IgAN. One of these large-scale fishing exercises recently identified a specific region on chromosome 8 linked to IgAN. “The contribution of this locus to the IgAN risk equals the sum of all the other genetic risk factors that have been discovered so far,” says Liu. He and his team wanted to explore
this region further by quantifying patterns of repetition, known as copy number of varia- tions, in a specific gene called DEFA1A3. The number of times a gene repeats can influence disease development and progression. Using a sophisticated genomic mining
technique, the researchers compared the number of DEFA1A3 genes present in DNA of more than 1,000 individuals with IgAN, and a similar number of healthy individuals. They found that the IgAN patients had significantly fewer repetitions of the DEFA1A3 gene, which was associated with an increased
A*STAR RESEARCH 25
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