中国人群细胞黏附相关基因多态性与非综合征型唇腭裂的关联研究

目的：研究北京市颗粒物污染对慢性阻塞性肺疾病急性加重（acute exacerbation of chronic obstructive pulmonary disease，AECOPD）的影响，并分析颗粒物污染对不同特征人群的影响差异。方法：从国家卫生与计划生育委员会医疗管理服务指导中心获取北京市2014年至2015年三甲医院AECOPD患者的住院资料，从中国空气质量监测平台获取同期大气污染资料，从中国气象局获取同期气象资料。采用广义相加Poisson回归模型，在控制长期趋势、周效应、节假日效应、气象条件等混杂因素后，评估PM2.5、PM10对AECOPD住院人次的影响。根据患者不同特征（性别、年龄）进行亚组分析，确定颗粒物污染的高危人群。结果：纳入15家医院，共7 884例住院患者，男女比例2.3 ∶1，65~79岁患者最多（45.5%）、≥80岁（37.1%）次之、<65岁（17.4%）最少。PM2.5、PM10日均浓度分别为（77.1±66.6） μg/m3、（111.9±75.8） μg/m3，两者均在移动平均滞后4 d时对AECOPD的影响最大，即PM2.5日均浓度每增加10 μg/m3，AECOPD住院人次增加0.53%（95%CI：0.01%~1.06%，P=0.0478）， PM10日均浓度每增加10 μg/m3，AECOPD住院人次增加0.53%（95%CI：0.07%~1.00%，P=0.025 0）。亚组分析结果显示，PM2.5、PM10日均浓度每增加10 μg/m3，女性患者住院人次分别增加1.13%（95%CI：0.19%~2.07%，P=0.018 3）、1.06%（95%CI：0.22%~1.91%，P=0.013 6）；≥80岁患者住院人次分别增加1.25%（95%CI：0.40%~2.11%，P=0.004 0）、1.18%（95%CI：0.42%~1.95%，P=0.002 4）；而男性、<65岁、65~79岁患者中，PM2.5、PM10与AECOPD的关联无统计学意义。由此可见，女性、≥80岁患者对颗粒物污染更敏感。结论：颗粒物污染会增加AECOPD住院风险，且女性、年老者风险更高。

Association study between candidate genes involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate in Chinese population

Objective:To explore the association and gene-environment interaction between single nu-cleotide polymorphisms (SNPs)involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate (NSCL/P)among Chinese population.Methods:A total of 806 NSCL/P trios were drawn by an international consortium,which conducted a genome-wide association study (GWAS)using a case-parent trio design to investigate genes affecting risks to NSCL/P.The transmission disequilibrium test (TDT)was used to explore the association between cell-cell adhesion genes,including CDH1,CT-NNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P.Conditional Logistic regression models were used to estimate effects on risk of exposed and unexposed children.Four common maternal exposures including maternal smoking,environmental tobacco smoke,alcohol consumption and multivita-min supplementation during pregnancy were included in this study.Results:A total of 226 SNP markers were tested after quality control in this study.Although 23 SNPs in three genes (CTNNB1,CDH1, ACTN1)showed nominal significant association with NSCL/P in the TDT (P <0.05).There were no sig-nificant evidence of linkage and association that remained in the transmission disequilibrium test after Bonferroni correction(P >0.000 2).Tests for gene-environment interaction yielded significant results be-tween rs7431 27 in ACTN1 and environmental tobacco smoke (P =0.000 1 )with an estimated OR (case |G and E)=2.00(95%CI:1 .23 -3.26)and OR (case |G no E)=0.59 (95%CI:0.38 -0.90).Among the lower P value results in gene-environment tests,there were no significant results be-tween rs1 475034,rs370535,rs227341 9 in ACTN1,rs1 06871 in CTNNB1 and environmental tobacco smoke interaction.There were also no significant results between rs7634000,rs2971 366,rs2634553, rs1 489032,rs762481 2 in PVRL3 and multivitamin supplementation during pregnancy in gene-environ-ment tests(P >0.000 2).Conclusion:There is no association between cell-cell adhesion genes,inclu-ding CDH1,CTNNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P when the genes are considered alone.But our results suggest that SNPs in ACTN1 may influence the risk to NSCL/P through gene-environment interaction.