Researchers Close In on Genetics of Age-Related Macular Degeneration

November 10, 2016
Dava Stewart

Scientists have ruled out the gene DMBT1 in the pursuit of understanding the pathogenesis of age-related macular degeneration (AMD).

Scientists have ruled out the gene DMBT1 in the pursuit of understanding the pathogenesis of age-related macular degeneration (AMD). A study led by Shamik Polley, PhD, of the Department of Genetics at the University of Leicester in the UK, was published in BMC Medical Genetics recently describes the findings.

The researchers explain, “DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway.” It is near other genes which have been associated with AMD. The researchers conducted the present study, they say, “to investigate whether DMBT1 CNV plays any role in the susceptibility to AMD.”

“Despite the multifactorial nature of AMD, and variable phenotype definitions, two genetic regions at 1q32 and 10q26 have been repeatedly implicated [in AMD] by linkage analysis and subsequently by genome wide association studies,” say the authors. However, they also say that “the functional basis of the association at 10q26 remains unclear.”

The researchers used previously published data, data from 860 AMD patients, and data from 480 unexamined controls in order to analyse the copy number variation and to look for an association with AMD. They found none.

“We have shown that copy number variation at DMBT1 does not affect risk of developing age-related macular degeneration, and can therefore be ruled out from future studies investigating the nature of association signal at 10q26,” conclude the researchers.

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