In our project, we aimed to compare the blood test results of patients with Bardet-Biedl syndrome (BBS) and healthy controls obtained through the UK Biobank. As the symptoms of BBS include obesity, we selected two sets of healthy controls: 1) age and gender-matched controls (BMI-random controls) and 2) controls with matching BMI (BMI-matched controls). We analyzed the differences in red blood cell count, white blood cell count, white blood cell populations (neutrophils, leukocytes, monocytes, eosinophils and basophils), platelet count, haematocrit, red cell distribution width, mean platelet volume, mean corpuscular hemoglobin and C-reactive protein. We found out that counts of total white blood cells, neutrophils, and eosinophils were increased in BBS patients when compared to BMI-random, but not BMI-matched controls. BBS patients showed low overall hemoglobin levels, caused by a mild decrease in the red blood cell count and low red blood cell hemoglobin, and decreased platelet counts. These changes were observed both compared to BMI-random and BMI-matched controls. Overall, we revealed that BBS patients show obesity-dependent alterations of the white-blood cell compartment and obesity-independent alterations of the red-blood cell and platelet compartments.
Quantifying abnormalities of haematopoietic and immune system in patients with Bardet-Biedl syndrome.
We have created a database of blood tests results of 200 patients with BBS from the UK. As we found out that some parameters are often out of normal ranges in BBS patients we would like to compare these data with data of (1) age, gender and BMI-matched controls from the UK Biobank and (2) age and gender-matched non-obese controls from the UK Biobank. We would like to analyze differences in red blood cell count, white blood cell count, white blood cell populations (neutrophils, leukocytes, monocytes, eosinophils and basophils), platelet count, haematocrit, red cell distribution width, mean platelet volume, mean corpuscular hemoglobin and C-reactive protein. We don't need any samples. The statistical analysis of all variables will be done in two weeks. Our data will show if there are statistically significant differences in basic blood tests parameters related to immune system in patients with Bardet-Biedl syndrome compared to control group. As the interconnection between BBS and immunity has not been addressed yet, these findings will be essential for any future research. In addition, our analysis which will include BMI-matched as well as non-obese controls will help future researchers understand if the alterations in immune and haematopoietic system of BBS patients are related to obesity. Due to protection of patients' identity, we are, however, not allowed to share our original BBS patients data with other researchers.
|Lead investigator:||Ms Veronika Niederlova|
|Lead institution:||Institute of Molecular Genetics of the ASCR|