ABSTRACT
Objective@#To investigate the characteristics of polymorphism distribution at the functional insertion/deletion locus rs145204276I/D in the promoter region of LncRNA GAS5 (growth-arrest specific transcript 5) gene in population of Guangxi district, and analyze the differences of polymorphism distribution of rs145204276I/D in the populations between Guangxi and other regions. @*Methods@#SNPscan high-throughput sequencing technique was used to detect rs145204276I/D locus in genotype of GAS5 gene of 289 subjects from Guangxi district, and the distribution frequencies of genotypes and alleles between different genders were analyzed. The differences of polymorphism distribution were compared with those in the database from the population of European (EUR), Japanese in Tokyo (JPT), South Asian (SAS), Admixed American (AMR), African (AFR), Chinese Han in Beijing (CHB), Nanjing, Jilin, Chongqing and Kunming which were published by 1000 genome project or reported in literatures. @*Results@#The frequencies of I/I, I/D and D/D genotypes of rs145204276I/D in GAS5 were 48.4%, 43.6% and 8.0%, respectively. The frequencies of I and D alleles were 70.2% and 29.8%, respectively. No significant difference of genotype and allele frequencies of rs145204276I/D was observed between different genders in Guangxi population ( P ＞0.05). The genotype and allele frequencies of rs145204276I/D in Guangxi population were significantly different from JPT, EUR, AFR, SAS and AMR populations ( P ＜0.05), but were not significantly different from those of Chinese Han population in Beijing, Nanjing, Jilin, Chongqing and Kunming ( P ＞0.05). @*Conclusion@#The distribution of LncRNA GAS5 gene rs145204276I/D polymorphism in Guangxi population was not different between men and women, and the polymorphism of LncRNA GAS5 gene was different from those of other regions in the world.