Comprehensive genome-wide association study of different forms of hernia
Principal Investigator: Mr Frank Geller
Approved Research ID: 33395
Approval date: February 22nd 2018
The term hernia summarizes connective tissue ruptures that result in tissue leaving its normal position by passing through the opening. Hernias are divided by their location. The condition might not cause any symptoms but the opening often grows over time and can become a problem. More than 50,000 records of hernia can be identified from ICD diagnoses and operation codes (diaphragmatic: >24,000, inguinal: >18,000, umbilical: > 4,700, ventral: >2900, femoral: >600). The resulting case numbers will empower genetic studies of all and individual hernias. The project investigates the genetics of several more or less common forms of hernia. By now, only a genome-wide association study of inguinal hernia has identified robustly associated genetic variants. Standard genome-wide association studies for the different forms of hernia and the combined group of any hernia will be performed, comparing allele frequencies in individuals who fit the case definition vs. the remaining individuals as controls. Initially, the full cohort is investigated. The age structure of the cases might lead to certain restrictions in terms of age and sex for the controls, as younger unaffected individuals could be much more likely to develop the condition later in life than older ones.