Principal Investigator: Ms Evelin Mihailov
Department: Estonian Genome Centre
Estonian Genome Centre, Riia 23b, Tartu 51010, EstoniaTags: 11795, GWAS, Inguinal hernia
1a: Males are seven times more likely than females to develop a hernia and have a 27% lifetime ‘risk’ of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of the current study is to identify specific variants in the human genome that can be associated with direct inguinal hernia.
1b: The proposed research is in the public interest as the possible determination of inguinal hernia hereditary pattern and thereby identification of high-risk patients would provide the possibility of timely control and intervention.
1c: Preliminary genome-wide association study using Estonian Genome Center, University of Tartu (EGCUT) genotype data with the latest 1000G Project reference based imputation revealed an interesting candidate loci, which should be replicated in an independent cohort. We would like to replicate our findings in UK Biobank using similar criteria for sample selection and similar analysis methodology.
1d: The research will focus on the individuals who have inguinal hernia diagnosis. All the cases of direct inguinal hernia and corresponding controls (1:4, sex and age matched) will be included. The total number samples with ICD-10 K40 diagnosis in UK Biobank is 12694 (http://biobank.ctsu.ox.ac.uk/crystal/field.cgi?id=41202). From that approximately 30-40% should be with direct inguinal hernia. We would prefer to select the cases and controls ourselves.