The elevated liver enzymes in blood may be a signal that the person’s liver is not working accurately, which can be detected from liver function tests. previous literature from many countries suggests that 25-51% of people who showed elevated liver enzymes have fatty liver disease. Therefore, we aim to validate the recently discovered genetic variants related to levels of liver enzymes in genome-wide association studies, with levels of liver enzyme markers in the population of Telangana, South India. This study was based on an epidemiological cohort, i.e., “Andhra Pradesh Child and Parents Study” (APCAPS), 752 individuals (392 males and, 360 females) aged between 18-75 years have been included in the study. The study mean age was found to be 42.42 (±12.39) years, 52.13% were males, and 47.87% were females. The mean levels of liver enzymes markers (ALT, ALP, and GGT) were found to be 10.85, 93.78, and 25.06, respectively. Overall, the study participants did not have elevated levels of liver enzymes. majority of participants showed normal levels of liver enzymes. We have indented four genetic variants (SNP rs738409 of PNPLA3 and SAMM50; SNP rs1976403 of ALPL and NBPF3, SNP rs1883415 of ALDH5A1, GPLD1, and SNP rs579459 of ABO) was significantly found to be associated liver enzymes markers (ALT and ALP), especially in stratified analyses. To our best knowledge, this is the first population-based study from India, which validated these variants with liver enzymes markers. These variants need to be replicated in the same population with more sample size and validated in different populations of India for best understanding of biological pathways related to liver enzymes markers and its related disorders especially fatty liver disease.
