First Report of Evaluation of Variant rs11190870 near LBX1 with Adolescent Idiopathic Scoliosis Susceptibility in a South-Asian Indian Population

Abstract Variant rs11190870 is located 7.5 kb downstream of LBX1 gene and several studies have implicated its association with Adolescent Idiopathic Scoliosis (AIS) in different populations. However, any genetic study is altogether lacking in South-Asian Indian (SAI) populations. We have recently reported lower incidence of AIS in SAI populations. Based on it, a case-control association study was designed to carry out replication of variant rs11190870 in a SAI population. In the study, 95 AIS cases and 282 non-AIS controls from Northwest India were screened and the variant was found to be following Hardy Weinberg equilibrium but did not show significant association (p = 0.66) with AIS. Interestingly, differences in frequency distribution as well as Linkage Disequilibrium (LD) of the variant were observed in SAI populations than other populations in 1000 Genomes phase 3 data. The findings hint at genetic heterogeneity to AIS susceptibility in SAI populations, warranting further studies.