中国妇幼健康研究2026，Vol.37Issue(9)：29-36,8.DOI:10.3969/j.issn.1673-5293.2026.09.005
UGT1A1基因多态性与脑损伤所致全面性发育落后的相关性
Correlation between UGT1A1 gene polymorphism and global developmental delay caused by brain injury
摘要
Abstract
Objective To investigate relationship between polymorphism of UDP-glucuronosyl transferase 1 A1(UGT1A1)gene and global developmental delay(GDD)caused by brain injury.Methods 144 children with GDD caused by brain injury who were diagnosed and treated in Xingtai Central Hospital from October 2019 to June 2024 were selected as study subjects and another 144 children with normal development who experienced brain injury were selected as controls.Gene frequencies and alleles at whole exon sites of c.211 G>A,c.686 C>A,c.1091 C>T,c.1456 T>G of the children were compared between the study group and the control group,and scores in Gesell Developmental Diagnosis Scale(GDDS)of the children were compared between the study group and the control group and among different genotype subgroups in the study group.Results Compared with the control group,frequencies of GG genotype and G allele at c.211 G>A locus,CC genotype and C allele at c.686 C>A locus,CC genotype and C allele at c.1091 C>T locus,and TT genotype and T allele at c.1456 T>G locus of the children in the study group were higher,there were statistically significant differences(χ2=5.080-89.078,all P<0.05).Compared with the control group,the children in the study group had lower scores in adaptive behavior,gross motor,fine motor,language,personal-social and developmental quotient(DQ),there were statistically significant differences(t=71.007-221.452,all P<0.05).The children with AA genotype at c.211 G>A locus,AA genotype at c.686 C>A locus,TT genotype at c.1091 C>T locus and GG genotype at c.1456 T>G locus had lower scores in adaptive behavior,gross motor,fine motor,language,personal-social and DQ,there were statistically significant differences(F=12.861-22.358,all P<0.05).Correlation analysis revealed that the mutant/wild-type genotypes at c.211 G>A,c.686 C>A,c.1091 C>T,and c.1456 T>G were positively correlated with GDD(r=0.493-0.697,all P<0.05),and negatively correlated with scores in adaptive behavior,gross motor,fine motor,language,personal-social and DQ(r values ranged from-0.861 to-0.333,all P<0.05).Multivariate Logistic regression analysis showed that the mutant/wild-type genotypes at c.211 G>A,c.686 C>A,c.1091 C>T and c.1456 T>G were all risk factors for GDD caused by brain injury(OR=3.254,3.307,3.180 and 2.748 respectively,all P<0.05).Conclusion UGT1A1 gene mutation is closely correlated to developmental delay.Early screening and intervention for UGT1A1 gene mutations will provide new ideas and strategies for reducing risk of developmental delay.关键词
儿童/UGT1A1/基因突变/发育落后/脑损伤/相关性Key words
children/UGT1A1/gene mutation/developmental delay/brain injury/correlation分类
医药卫生引用本文复制引用
冀京雷,李秀丽,贾亚男,冯会敏..UGT1A1基因多态性与脑损伤所致全面性发育落后的相关性[J].中国妇幼健康研究,2026,37(9):29-36,8.基金项目
河北省卫生健康委2024年度医学科学研究课题计划(20242131) （20242131）
