摘要
目的:探讨体轴抑制因子Axin1的3个Tag SNP的基因分布频率与隐睾的发病风险的相关性。方法:采用PCRRFLP方法对113例隐睾患儿和179名正常儿童进行分型检测,对比分析两组不同基因型的分布频率。结果:rs370681的T等位基因(P=2e-4,OR 1.96,95%CI 1.37~2.78),T/T基因型(P=6e-4,OR 4.00,95%CI 1.79~9.09),C/T-T/T基因型(P=4e-4,OR 2.44,95%CI 1.47~4.00)是隐睾的患病风险因素。rs1805105的基因型分布结果发现,与T/T相比较,C/C-C/T基因型隐睾风险增高1.64倍(P=0.041,95%CI 1.02~2.63),与T/T-C/C基因型相比,C/T基因型携带者隐睾症风险增加1.72倍(P=0.032,95%CI 1.05~2.86)。结论:rs370681的T等位基因和T/T基因型及rs1805105的C/T基因型在隐睾患儿分布频率更高。
Objective： To investigate whether cryptorchidism risk is associated with the frequency of gene distribution of 3 TagSNP of polymorphisms in the AXIN1 gene. Methods： The variants were discriminated using polymerase chain reaction restriction fragment length polymorphism（ PCR-RFLP） methods. A total of 113 cases and 179 controls were recruited to participate in this study,the distribution frequencies of different genotypes were compared and analyzed between the two groups. Results： A significantly increased cryptorchidism risk was found to be associated with both the T allele（ P = 2 e-4,OR 1. 96,95% CI 1. 37-2. 78）,T/T genotype（ P =6 e-4,OR 4. 00,95% CI 1. 79-9. 09） and C/T-T/T genotype（ P = 4 e-4,OR 2. 44,95% CI 1. 47-4. 00） of rs370681 polymorphism. The genotype distribution of rs1805105 found that the risk of C/C-C/T genotypic cryptorchidism increased by 1. 64 times（ P =0. 041,95% CI 1. 02-2. 63） compared with T/T allele,and the risk of cryptorchidism in the C/T genotype was 1. 72 times higher than that of the T/T-C/C genotype（ P = 0. 032,95% CI 1. 05-2. 86）. Conclusion： The T allele and T/T genotype of rs370681 polymorphisms and C/T genotype of rs1805105 polymorphisms in AXIN1 gene are more frequent in patients with cryptorchidism.
作者
唐铁龙
黄静
邹兵
谭春林
付剑
李鑫
TANG Tie-long;HUANG Jing;ZOU Bing;TAN Chun-lin;FU Jian;LI Xin(Depratment of Urology,Urogenital Disease Research Laboratory,Affiliated Hospital of North Sichuan Medical College,Nanchong 537000,Sichuan,China)
出处
《川北医学院学报》
CAS
2018年第4期500-503,共4页
Journal of North Sichuan Medical College
基金
国家自然科学基金(81000246)
四川省教育厅重点项目(14ZA0187)
