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该基因中的48bp可变数目串联重复序列(VNTR)多态性与患有和未患有慢性阻塞性肺疾病(COPD)的墨西哥梅斯蒂索男性吸烟者中较高的吸烟量相关。

The VNTR 48 bp Polymorphism in the Gene Is Associated with Higher Tobacco Smoking in Male Mexican Mestizo Smokers with and without COPD.

作者信息

Pérez-Rubio Gloria, García-Carmona Salvador, García-Gómez Leonor, Hernández-Pérez Andrea, Ramírez-Venegas Alejandra, López-Flores Luis Alberto, Sansores Raúl, Falfán-Valencia Ramcés

机构信息

HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico City 14080, Mexico.

Tobacco Smoking and COPD Research Department, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico City 14080, Mexico.

出版信息

Diagnostics (Basel). 2019 Dec 30;10(1):16. doi: 10.3390/diagnostics10010016.

Abstract

Cigarette smoking is influenced by nicotine's effects on dopaminergic activity, which appear to be moderated by genetic variation, particularly a variable number tandem repeat (VNTR, 48 bp) polymorphism in the third exon of the dopamine receptor gene (). Smokers with the VNTR ≥7 repeats (long, L allele) report markedly increased participation in some smoking behaviors; hence, our aim was to evaluate the association of the L allele in Mexican Mestizo smokers with and without COPD. The VNTR 48 bp was genotyped in 492 Mexican Mestizo smokers: 164 COPD patients (≥20 cigarettes per day, cpd), 164 heavy smokers without COPD (HS, ≥20 cpd) and 164 light smokers without COPD (LS, 1-10 cpd). In the dominant model analysis (SL + LL vs. SS), men in the COPD and HS groups showed a statistical difference compared to LS ( = 0.01, OR = 2.06, CI 95% 1.17-3.64 and = 0.05, OR = 1.88, CI 95% 1.03-3.45, respectively). In addition, by clustering smokers >20 cpd (COPD + HS) and comparing with the LS group, we found an association with increased risk of higher tobacco smoking = 0.01, OR = 1.99, CI 95% 1.18-3.34. In conclusion, the long allele (L) in the VNTR of the gene is associated with the risk of presenting higher tobacco smoking in male Mexican Mestizo smokers.

摘要

吸烟受尼古丁对多巴胺能活性的影响,而这种影响似乎受到基因变异的调节,尤其是多巴胺受体基因第三外显子中的可变数目串联重复序列(VNTR,48 bp)多态性。VNTR≥7次重复(长型,L等位基因)的吸烟者报告称某些吸烟行为明显增加;因此,我们的目的是评估墨西哥梅斯蒂索吸烟者中L等位基因与慢性阻塞性肺疾病(COPD)患者和非COPD患者的关联。对492名墨西哥梅斯蒂索吸烟者的48 bp VNTR进行基因分型:164名COPD患者(每天≥20支香烟,cpd)、164名无COPD的重度吸烟者(HS,≥20 cpd)和164名无COPD的轻度吸烟者(LS,1 - 10 cpd)。在显性模型分析(SL + LL 与 SS)中,COPD组和HS组的男性与LS组相比存在统计学差异(分别为 = 0.01,OR = 2.06,95% CI 1.17 - 3.64和 = 0.05,OR = 1.88,95% CI 1.03 - 3.45)。此外,通过将每天吸烟>20支的吸烟者(COPD + HS)聚类并与LS组比较,我们发现与吸烟量增加的风险相关( = 0.01,OR = 1.99,95% CI 1.18 - 3.34)。总之,基因VNTR中的长等位基因(L)与墨西哥梅斯蒂索男性吸烟者吸烟量增加的风险相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/198e/7168062/707c2e745ef9/diagnostics-10-00016-g001.jpg

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