NHGRI Issues $31M to Follow-Up SNP Research

Flush with $31 million in funding from the National Human Genome Research Institute, four researchers will be following up on putative disease-related SNPs identified through genome-wide association studies. These scientists will be examining the prevalence of common disease SNPs in different, already existing epidemiological cohorts to see if they are still linked to disease in general populations. "If you think about a typical genome-wide association study as looking at many genetic variants in relation to one or a few health outcomes, in this follow-up program, we're looking at one or a few genetic variants in relation to many health-related outcomes," says Lucia Hindorff, program director at NHGRI.

GWAS research uncovers genes associated with disease, but does so in a population predisposed to find such SNPs, even in case-controlled studies. "Which is great for discovery," says Vanderbilt University's Dana Crawford, who received $7 million of this grant. "But when you're trying to describe what the SNP looks like in the general population — we don't have any data on that yet."

The cohort that Crawford will be working with is from a long-running Centers for Disease Control and Prevention cross-sectional study that, as she says, takes a slice of America. Her population is one-third each Mexican-American, African-American, and European-American. Most of the GWAS SNP discoveries so far have been conducted in populations of European descent, and looking in her cohort could show if the SNP-disease association holds true in a more diverse population.

Not all cohorts under investigation are cross-sectional; others have followed participants for decades. Fred Hutchinson Cancer Research Center's Charles Kooperberg will be studying SNPs in the Women's Health Initiative population, which has followed 160,000 women since 1991. "We have a wealth of epidemiological data. We have loads of clinical outcomes data," he says.

Just which SNPs and what epidemiological data will be the focus, Crawford and Kooperberg don't yet know, but the common diseases are likely to include diabetes, heart disease, and cancer. Crawford and Kooperberg, along with the Gerardo Heiss at the University of North Carolina, Chapel Hill, and Loïc le Marchand at the University of Hawaii Research Cancer Center will act as a consortium and soon will meet to prioritize a list of SNPs. "We hope to be able to fill in gaps about what's known about genetic variants in these populations with this program," says Hindorff.