Over more than a decade, we have established the Pakistan Genomic Resource which current comprises of > 130,000 participants (PI: Saleheen). We are continuing to enroll participants with a target sample size of 300,000 participants. Of the enrolled participants, there are 45,000 patients with first onset myocardial infarction, 35,000 patients with type-2 diabetes, 6,000 patients with imaging confirmed stroke, 8,000 patients with heart failure, 10,000 patients with chronic kidney disease, 1,000 patients with autism and 50,000 participants who serve as common controls.
These participants have been enrolled through dedicated research physicians, phlebotomists and field staff who exclusively work for the Center for Non-Communicable Diseases, Pakistan. Our research physicians are registered health doctors in Pakistan who approach eligible cases and controls. Our recruitment takes place at more than 15 different sites in Pakistan. After taking an informed consent, participants are enrolled.
On all participants, information has been recorded through validated questionnaires recording information on > 300 items. Additionally, from all study participants, genomic DNA has been extracted and blood samples have been stored at -80 0C within 45 minutes of venipuncture. Furthermore, basic biochemistry, anthropometric traits and ECG are available in all study participants.
On all participants, information has been recorded using validated questionnaires tailored to the Pakistani population. Our research physicians record information on medical and medication history, prior or current management at a relevant hospital, female reproductive history, family history of wide range of diseases, ethnicity, marital status, personal and parental consanguinity, socio-economic status, educational status, physical activity, tobacco consumption, psychosocial factors and food frequency questionnaire. Anthropometry, ECG and blood pressure are also recorded in all study participants. All study participants have been consented for call-back studies as well.
We are continuing to expand our enrollment to 300,000 participants. In-addition to outcomes already enrolled, we are also capturing other phenotypes, including Asthma and COPD, NAFLD, CAD, Parkinson’s disease and families who have multiple individuals who are knockouts for the same gene.