A study on the correlation of ABCA3 gene mutation and neonatal respiratory distress syndrome / 中国新生儿科杂志

ABSTRACT

Objective To study the relationship between exon10 region mutation of adenosine triphosphate-binding cassette transporters A3 (ABCA3) gene and neonatal respiratory distress syndrome (RDS).Method From September 2014 to January 2018,neonates admitted to the neonatal intensive care unit of our hospital were studied.Mongolian and Han Chinese newborns with RDS were assigned into Mongolian RDS group and Han RDS group.Mongolian and Han Chinese newborns without RDS were assigned into Mongolian control group and Han control group.The genotype frequencies and allele frequencies of ABCA3 exon10 in each group were compared.Result A total of 320 cases were studied,including 60 cases in Mongolian RDS group,100 cases in Han RDS group,60 cases in Mongolian control group,and 100 cases in Han control group.A single-base point mutation C ＞ T in the ABCA3 rs13332514 (F353F) locus was founded in both Mongolian and Han Chinese newborns.The mutation rates in Mongolian RDS group and Mongolian control group were 26.7％ and 18.3％,and the difference was statistically significant (x2 =6.316,P =0.043);the mutation rates in Han RDS group and Han control group were 21.0％ and 13.0％,the difference was also statistically significant (x2 =7.426,P =0.009).No significant differences existed between Mongolian RDS group and Han RDS group,and between Mongolian control group and Han control group (P ＞ 0.05).The genotypes of CC,CT and TT were detected in both Mongolian and Han RDS groups,and the CC and CT genotypes were also detected in the control group.The T allele frequency was 18.3％ in Mongolian RDS group,and 9.2％ in Mongolian control group.The difference was statistically significant (x2 =4.251,P =0.039).The T allele frequency in Han RDS group was 15.0％,and 6.5％ in Han control group.The difference was also statistically significant (x2 =7.530,P =0.006).Conclusion A single-base point mutation C ＞T in the rs13332514 (F353F) locus of ABCA3 exonl0 may be related to the occurrence of RDS in Mongolian and Han newborns in Inner Mongolia.Allele T may be one of the susceptibility genes of RDS.