LBX1 is a developmental gene involved in skeletal muscle development and somatosensory functioning and proven to be an important gene involved in Adolescent Idiopathic Scoliosis (AIS) etiology. Variant rs11190870 is located 7.5 kb downstream of LBX1 gene and is part of haplotype that is reported to provide risk for AIS. Several studies, including various Genome Wide Association, replication and meta-analyses studies have implicated its association with AIS in different populations. However, any such study is altogether lacking in South-Asian Indian populations. In this first genetic association study for AIS from the region, we tried to replicate association of variant rs11190870 in 95 AIS cases and 282 healthy non-AIS controls from Northwest India. The genotyping was carried out on a Realtime PCR using TaqMan allele discrimination assay and the variant was found to be following Hardy Weinberg equilibrium. The statistical analyses of the genotyping data did not show significant association (p=0.66) of variant rs11190870 with AIS in the population of Northwest India. The results are interesting findings in a population that has never been studied before for AIS susceptibility. However, the findings can be attributed to under power study thus, need evaluation in a large sample set from the population. Interestingly, frequency distribution of the variant in Indian control population datasets was found to be different than other global populations. Linkage Disequilibrium (LD) differences in the genomic region were also observed in these populations while analysing 1000Genomes phase 3 data. It hints at existence of either haplotypic differences in LBX1 locus in South-Asian Indian populations with respect to other populations or genetic heterogeneity in AIS susceptibility. This lays a foundation for genome wide association study (GWAS) in Indian populations cohort, for better understanding of AIS, a task we are pursuing.
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.
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