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27.7.2008

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Genome Wide Mapping of Quantitative Traits (QGEN)

© Udo Bernhart / NG-D
Preliminary results related to some of the quantitative traits under investigation showed that many of our investigated traits had a significant genetic component in our cohort. Serum parameters were thus expanded, and are being used in the following priority projects:

• Kidney function (FunkyGen): Preliminary results of analyses have identified significant regions of linkage for creatinine clearance. Additional biomarker information relative to kidney function is available (Cystatin-C, Apolipoprotein A-IV, Albumin, serum urea nitrogen, uric acid) and is being analyzed by linkage and association.

• Cardiac function (CardioQ): Genome wide linkage and association analyses are currently being performed with emphasis on the length of QT interval. Detailed electrocardiogram measurements are available, along with serum measurements of NT-Pro-BNP and many others, which will be used for expanded studies.

• Iron Metabolism. Ferritin has been analyzed and demonstrates a significant genetic component. Measurements of transferrin, soluble transferrin receptor and free iron are underway to complement this initial analysis, both independently, and in conjunction with other diseases and syndromes (i.e. Restless Legs Syndrome).

• Serum measurements are available on lipidomics traits, including in addition to standard lipids (HDL, LDL, Triglycerides), sterols, bile acids, steroids, phospholipids, sphingolipids, fatty acids, small dense LDL (ratio of large LDL vs. small dense LDL), and HDL subset analysis. These are currently being analyzed in conjunction with data from four additional European population isolates (The European Special Populations Research Network, EUROSPAN). Additional lipid related serum parameters, such as RANKL, leptin and adiponectin amongst others are also available.

• Bone diseases. Bone Mineral Density, along with osteocalcin, osteoprotegrin, c-telopetide, procollagen type-I N propeptide and IGF-1 measurements are currently being analyzed using linkage and association methods.

Genome-Phenome Scanning by linkage and association

© Udo Bernhart / NG-D

In the first phase of data gathering from the cohort, a general medical screening questionnaire was administered, that collected end-point health data over a wide range of diseases. From this, those with greater than 10% frequency in the population are being analyzed by linkage and association. A detailed genealogy with over 50,000 records spanning 15 generations is being used, as has been so successful in other population isolates such as Iceland, to drive the linkage and family-based association approaches that complement the QGEN projects.

Novel data visualization and mining tools are being developed to support this research (pedvizapi, jenti).

The most active current projects include, amongst others, an investigation of the genetics of:

• Migraine

• Restless Legs Syndrome

• Sleep Disorders

• Basal Ganglia Calcification

• Eye disorders

• Thyroid dysfunction

• Gallstones

In addition to a Family-based investigation of these disorders, in isolation, and in conjunction with quantitative trait data that might be indicative of pre-symptomatic disease, there is also an active project to characterize Copy Number Variation (CNV) throughout the cohort with the aim of both characterizing stable and de novo mutations, their frequencies in the population, and possible relation to disease.

Public health genomics

© Udo Bernhart / NG-D
As more information on genetic risk factors for common diseases and traits is reported in the literature, it is becoming increasingly important to translate this information for both the public at large and healthcare professionals.

A genetic risk factor is a variation in the genetic code that acts by itself, or in interaction with other factors such as the environment (diet, exercise and lifestyle) to cause or increase likelihood of developing a given disease. Common diseases such as heart attacks and type 2 diabetes are examples of this. It is important to understand what carrying such a genetic risk variant for a common disease means, and how this information can be used by individuals and health care systems to promote strategies of prevention, that can reduce the likelihood of developing the disease.

As an integral part of this process, we are also actively exploring ways to improve the legal, social and ethical frameworks of genomics research with an emphasis on promoting active participation and interaction with the public while affording them the maximum protection within these frameworks.

Photos by Udo Bernhart courtesy of National Geographic Deutschland

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