Distribution characteristics of polymorphisms of rs619586 and rs7927113 at MALAT1 in Guangxi population

Acta Universitatis Medicinalis Anhui 2020 09 v.55 1421-1425     font:big middle small

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Authors:Wang Yan; Liu Chunhong; Tan Tan

Keywords:MALAT1;genetic polymorphism;Guangxi population

DOI:10.19405/j.cnki.issn1000-1492.2020.09.020

〔Abstract〕 Objective To explore the distribution characteristics of single nucleotide polymorphisms(SNPs) of rs619586 and rs7927113 at metastasis-associated lung adenocarcinoma transcript 1(MALAT1) in Guangxi healthy population, and to further compare the distribution differences of polymorphisms among different populations. Methods The polymorphisms of MALAT1 were genotyped by the SNPscan technology in 195 samples from Guangxi, and statistical methods were used to compare the differences in genotype and allele frequency between Guangxi population and other populations from haplotypemap(HapMap-CHB, HapMap-JPT, HapMap-CEU and HapMap-YRI). Results The genotypes of rs619586 included AA(78.5%) and AG(21.5%) in Guangxi population, and the frequencies of A and G allele were 89.2% and 10.8% respectively. Rs7927113 had GG(97.4%) and AG(2.6%) genotypes, and the frequencies of allele were 98.7% and 1.3% for G and A respectively. There was no statistically significant difference in polymorphism of two loci between male and female samples(P>0.05). The genetic polymorphisms of rs619586 in Guangxi population were significantly different from HapMap-JPT, HapMap-CEU and HapMap-YRI(P<0.05). The differences in polymorphism of rs7927113 between Guangxi population and HapMap-YRI were significant(P<0.05). Conclusion The few mutations in MALAT1 rs619586 and rs7927113 in the Guangxi population differ from those of other regions in varying degrees, which lay the groundwork for the genetic analysis of local diseases related to MALAT1 gene.