Genetic variants of CDH13 determine the susceptibility to chronic obstructive pulmonary disease in a Chinese population

Abstract

Aim: Adiponectin has been implicated in the development of chronic obstructive pulmonary disease (COPD). The CDH13 gene encodes T-cadherin that is an adiponectin receptor, and genetic variants of CDH13 determine blood adiponectin levels. The aim of this study was to investigate the effects of CDH13 variants on COPD susceptibility in a Chinese population. Methods: Ten single-nucleotide polymorphisms (SNP) in CDH13 were screened using the SNaPshot method in 279 COPD patients and 367 control subjects. Association of genotypes or haplotypes constructed from these loci with COPD was analyzed in different genetic models. Results: Among the 10 SNPs tested, rs4783244 and rs12922394 exhibited significant differences in allele or genotype frequencies between COPD patients and control subjects, whereas 8 other SNPs did not. The minor allele T was associated with decreased risk of COPD in the recessive model at rs4783244 (OR=0.42, P=0.023) and in the dominant model at rs12922394 (OR=0.70, P=0.022). The genotype TT at either rs4783244 or rs12922394 was associated with a significantly low level of plasma adiponectin when compared to genotypes GG and CC (P<0.05). Haplotypes GC in block 1 (rs4783244-rs12922394) as well as GTAC and ATGT in block 3 (rs4783266-rs11640522-rs11646849-rs11860282) significantly increased the risk of COPD, whereas haplotypes TT in block 1, TG in block 2 (rs11646011-rs11640875) and ATGC in block 3 were protective against COPD. Conclusion: CDH13 genetic variants determine Chinese individuals' susceptibility to COPD and thus are efficient genetic biomarkers for early detection of COPD.

Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population

“…The SNP rs12922394 is in the first intron of the CDH13 gene and is usually removed during the gene-splicing process. Yuan et al reported that the T allele of rs12922394 was associated with a significantly reduced risk of COPD [44]. In the current study, we found that the T allele of rs12922394 (R = 0.651, 95% CI 0.449-0.942, P < 0.022) was also associated with a reduced risk of COPD, indicating that this variant may protect against COPD development.…”

<p>Association among genetic polymorphisms of GSTP1, HO-1, and SOD-3 and chronic obstructive pulmonary disease susceptibility</p>

“…At present, most genetic association studies on COPD risk are focused on determining the individual effects of SNPs and their interaction effects on the disease. Yuan et al found that CDH13 genetic variants determine Chinese individuals’ susceptibility to COPD and could be used as efficient genetic biomarkers for early detection of COPD 18. Xie et al demonstrated that the polymorphisms of WWOX play a role in COPD susceptibility and pulmonary function traits in COPD inheritance.…”

“…Differences in allelic and genotypic frequencies of the gene polymorphisms in healthy controls and patients with COPD were compared by χ 2 test, which was also used to evaluate Hardy–Weinberg equilibrium for each individual locus. A multiple logistic regression analysis was performed to correct the significant P -value 18…”

Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population

“…CCDC67 mRNA, which encodes a 604 amino acid protein containing a coiled-coil domain, was associated with down-regulation in various tumor tissues such as lung, cervix, and gastric cancers [30]. The CDH13 polymorphisms play critical roles in metabolic processes and in the development of metabolic-related diseases and lung diseases such as chronic obstructive pulmonary disease [31, 32]. In most previous PTB GWASs, nongenetic covariates were not considered; however, we could not replicate the associations reported in these studies, even in our unadjusted model.…”