Yonsei Med J.  2011 Nov;52(6):953-960. 10.3349/ymj.2011.52.6.953.

The Association of SERPINE2 Gene with COPD in a Chinese Han Population

• Wang A
• Yin Y
• Chen P
• Liu Q
• Yu Q
• Xiao W

• KMID: 1058815
• DOI: http://doi.org/10.3349/ymj.2011.52.6.953

Abstract

PURPOSE
Polymorphisms of several candidate genes have been studied and associated with the development of chronic obstructive pulmonary disease (COPD). One such candidate is the SERPINE2 (Serpin peptidase inhibitor, clade E member 2) gene.
MATERIALS AND METHODS
To assess whether the SERPINE2 gene is associated with COPD in a Chinese Han population. Samples were collected from a Chinese Han population and analyzed for the association of single nucleotide polymor phisms (SNPs) or haplotypes of SERPINE2 gene with COPD in a case-control study. Three SNPs including rs840088 G/A in intron 1, rs1438831 A/G in 5' upstream sequence and rs3795879 G/A in intron 3 were detected using the polymerase chain reaction (PCR)-based restriction fragment length polymorphism technique in 409 COPD subjects and 411 controls. Genotyping of the SREPINE2 polymorphisms at positions rs840088, rs1438831and rs3795879 was performed.
RESULTS
We found that none of the rs840088G/A, rs1438831G/A and rs3795879 G/A polymorphisms were associated with the disease. The p-values were 0.630, 0.208 and 0.398 respectively.
CONCLUSION
Our data suggested that there was no significant association between SERPINE2 polymorphism and COPD susceptibility in the Chinese Han population.

Keyword

Chronic obstructive pulmonary disease; SERPINE2 gene; polymorphism; susceptibility

MeSH Terms

Asian Continental Ancestry Group
Case-Control Studies
Female
Genetic Predisposition to Disease/genetics
Genotype
Haplotypes/genetics
Humans
Male
Middle Aged
Polymorphism, Restriction Fragment Length/genetics
Polymorphism, Single Nucleotide/genetics
Pulmonary Disease, Chronic Obstructive/*genetics
Serpin E2/*genetics

Figure

• 

  Fig. 1 The genotype analysis of SNP rs840088 by the PCR-restriction fragment length polymorphism (PCR-RFLP) method. rs840088G/A allele was genotyped by PCR-RFLP. PCR products were digested with MLY1 for 3 h at 37℃. After electrophoresis in 2.0% agarose gel and staining with ethidium bromide, the genotypes were determined. When the GG allele was present, MLY1 would cut the 304 bp PCR products into two fragments of 177 bp and 127 bp. The AA homozygous case showed a 304 p uncleavage product, while the GA heterozygous case showed 304 bp, 177 bp and 127 bp products. Lane M: DNA Marker; Lane1, 2, 4, 6: GG genotype; Lane3, 7, 8: GA genotype; Lane5: AA genotype. 90×66 mm (300×300 DPI). SNP, single nucleotide polymorphism.

• 

  Fig. 2 The genotype analysis of SNP rs1438831 by the PCR-RFLP method. The SNP rs1438831G/A was also analyzed by PCR-RFLP using Taq1 enzyme. Taq1 digestion for 3 h at 65℃ cut the 402 bp PCR products into two fragments of 292 bp and 110 bp when the GG allele was present. The AA homozygous case showed 402 bp uncleavage product, while the GA heterozygous case showed 402 bp, 292 bp and 110 bp products. Lane M indicates the 100-bp molecular markers. Lanes 2, 3 and 6 indicate three kinds of genotypes: GG, GA, AA respectively. 81×58 mm (300×300 DPI). PCR-RFLP, PCR-restriction fragment length polymorphism; SNP, single nucleotide polymorphism.

• 

  Fig. 3 The genotype analysis of rs3795879 by the PCR-RFLP method. In the case of rs3795879, MSC1 cleaved PCR products into 134 bp and 60 bp when GG allele was present. AA homozygous case showed 194 bp uncleavage product, while the GA heterozygous case showed 194 bp, 134 bp and 60 bp products. Lane M was loaded with 100-bp molecular markers. Lanes 1, 2 and 6 indicate three kinds of genotypes: GA, AA, GG respectively. 81×60 mm (300×300 DPI). PCR-RFLP, PCR-restriction fragment length polymorphism.

• 

  Fig. 4 The DNA sequencing of rs840088. Direct sequencing of a subgroup of samples with the same primers for PCR-RFLP was performed using the BigDye Terminator v1.1 Cycle Sequencing kit (Applied Biosystems), and analyzed on an ABI PRISM 3100 DNA sequencer (Applied Biosystems, Foster City, USA). (A) GG genotype. (B) GA genotype. (C) AA genotype. 82×48 mm (300×300 DPI).

• 

  Fig. 5 The DNA sequencing of rs1438831. DNA sequencing was performed as described in Fig. 4. (A) GG genotype. (B) GA genotype. (C) AA genotype. 82×48 mm (300×300 DPI).

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  Fig. 6 The DNA sequencing of rs3795879. DNA sequencing was performed as described in Fig. 4. (A) GG genotype. (B) GA genotype. (C) AA genotype. 82×48 mm (300×300 DPI).

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