KIF6 and Coronary Heart Disease (CHD)

Celera has discovered a novel genetic variant, KIF6, that has been associated with up to 55% increased risk for coronary heart disease in five prospective studies of approximately 60,000 people. The additional risk conferred by this SNP, which occurs in the kinesin family of proteins, is independent of the standard risk factors for coronary heart disease: age, gender, smoking status, diabetes and lipid levels.

Carriers of the KIF6 risk variant also have substantially greater than average benefit from statin therapy, independent of cholesterol lowering, resulting in fewer cardiovascular events. This variant, which is present in 60% of the population, could be useful in helping physicians identify those patients at additional risk for an event and whose incremental risk could be ameliorated by statin therapy. In patients who are non-carriers, physicians may choose to supplement or modify statin therapy. Celera is developing products to meet this need.


Thrombophilia is defined as an acquired or inherited predisposition to form blood clots, which may occur in either the arterial or venous systems. Deep vein thrombosis (DVT) is a condition where a thrombosis (clot) forms and impedes the blood flow in the deep veins of the calf, thigh, or (occasionally) arm. The clot may ultimately dislodge and result in a life-threatening pulmonary embolism.

Single nucleotide polymorphisms (SNPs) associated with DVT include Factor V Leiden R506Q, Factor II (Prothrombin) G20210A, Methylene Tetrahydrofolate Reductase (MTHFR) A222V and E430A and another variant in Factor V, the R2 allele H1299R. Celera’s discovery program seeks to identify additional SNPs to aid in our ability to assess patient risk and manage treatment.

Liver Fibrosis

In the US, it is estimated that 4 million people have been infected with hepatitis C virus (HCV) and that 3 million have chronic hepatitis C (CHC). CHC accounts for approximately 40% of all chronic liver disease and is the most common indication for liver transplantation. Clinical factors such as age, gender, alcohol use and age at infection influence the progression to cirrhosis but cannot accurately predict the risk of developing cirrhosis in CHC patients. Celera’s discovery program seeks to identify host genetic factors that could play a role in fibrosis risk and progression.

Breast Cancer

More than 210,000 women in the United States and 1.1 million worldwide are diagnosed each year with breast cancer. Approximately 41,000 women die annually from the disease. Breast cancer remains the most common cause of death among women between the ages of 40 and 79. When a woman is diagnosed, her physician uses the clinical characteristics of the tumor, such as size, estrogen receptor status and node involvement, to estimate the risk of future distant metastasis and make treatment decisions. To aide in this assessment Celera has identified a panel of gene expression markers predictive of risk for metastasis and developed another set of gene expression markers that provides an assessment of estrogen receptor and progesterone receptor status along with likely response to Herceptin® treatment.


Mutations within the fragile-x mental retardation gene (FMR1) have been linked to several clinically distinct disorders since the gene was first identified in 1991, most notably Fragile-X Syndrome. Fragile-X Syndrome is the most prevalent cause of inherited mental retardation and affects approximately 1 in 4000 males and 1 in 7000 females. The condition is associated with expansions within a specific segment of the X chromosome’s FMR1 gene. Expansions within the same segment of this gene have also been linked to primary ovarian insufficiency (POI), which presents as menopause-like symptoms before the age of 40, and Fragile-X Tremor/Ataxia Syndrome (FXTAS), which results in intention tremors, autonomic dysfunction and impaired cognitive skills.

Lung Cancer

Lung cancer is the number one cancer killer in American men and women, and will kill more people every year than breast, colon, and prostate cancer combined. The majority of diagnosed cases are identified in the late stages of the disease and physicians have very little to help them predict and diagnose lung cancer. With the complete sequence of the human genome recently elucidated, new genetic and protein expression identification technologies may help address this unmet need. Celera has active proteomics programs focused on identifying informative markers.