Single-nucleotide polymorphisms in the TSPYL-4 and NT5DC1 genes are             associated with susceptibility to chronic obstructive pulmonary disease.
The risk of developing chronic obstructive pulmonary disease (COPD) is partially             determined by genetic and environmental factors. Many published candidate gene             studies show conflicting results due to ethnic differences and sample sizes. The             number of these studies carried out in Chinese populations is small. To investigate             candidate genes and haplotypes for susceptibility to COPD in a southern Han Chinese             population, we performed genotyping of DNA samples in 200 COPD patients and 250 control             subjects by analyzing 54 single-nucleotide polymorphisms (SNPs) in 23 genes associated             with the development of COPD and/or pulmonary function identified by genome-wide             association studies (GWAS). We also performed linkage disequilibrium (LD) and             haplotype analysis according to the results of genotyping. The frequencies of             the SNP [rs3749893 of testis‑specific protein Y-encoded-like 4 (TSPYL-4) gene]             G allele and SNP [rs1052443 of 5'-nucleotidase domain containing 1 (NT5DC1) gene]             A allele were significantly higher in the cases studied compared to the control             subjects (P=0.032, P<0.05, OR=0.692, 95% CI 0.495‑0.970; P=0.0205, P<0.05,             OR=0.670, 95% CI 0.477-0.941, respectively). Results showed that two blocks of             SNPs (rs1052443 and rs3749893; rs11155242 and rs6937121) had sufficient precision             to allow construction of a haplotype block. We constructed the TSPYL-4 and NT5DC1             haplotypes of the cases and controls, but no significant difference between the             two groups was found. rs3749893 A allele of TSPYL-4 and rs1052443 C allele of             NT5DC1 were associated with a protective effect against the deterioration of pulmonary             function. In conclusion, TSPYL-4 and NT5DC1 gene polymorphisms are associated             with susceptibility to COPD and pulmonary function.
Department of Respiratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University (SJTU), School of Medicine, Shanghai 200025, PR China.
Yi
Y
Guo
Yi
Y
Gong
Guochao
G
Shi
Kun
K
Yang
Chunming
C
Pan
Min
M
Li
Qingyun
Q
Li
Qijian
Q
Cheng
Ranran
R
Dai
Liang
L
Fan
Huanying
H
Wan
D015720:5'-Nucleotidase / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D000483:Alleles; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D029589:Seminal Plasma Proteins / Q000235:genetics* / Q000378:metabolism
D029589:Seminal Plasma Proteins; C480315:TTTY4 protein, human; D015720:5'-Nucleotidase