Association Of The SNPs In The Beta Enolase Gene With Susceptibility To Skeletal Muscle Atrophy Of COPD Patiens In The Population With The Han Nationality In Kunming

Objective:In this study, polymerase chain reaction (PCR)was used and DNA samples were one-way directed sequenced, to discuss gene mutation rates of two mutation sites of beta enolase gene, which were rs121918403(G/A) and rs121918404(G/A). So as to investigate the association of beta enolase gene polymorphisms with the risk of skeletal muscle atrophy in COPD.Methods:Peripheral venous blood samples from120COPD patients (57patients were COPD skeletal muscle atrophy group,63patients were COPD skeletal muscle non-atrophy group) who were hospitalized in department2of Respiration from the first affiliated hospital of Kunming medical university and60age matched normal controls.PCR was used and DNA samples were sequenced, to analyze two mutation sites, which were rs121918403(G/A) and rs121918404(G/A).We discuss the relationships between two mutation sites of beta enolase and skeletal muscle atrophy in COPD.Results:Target fragments(target fragment of rs121918403(G/A) was named R, and target fragment of rs121918404(G/A) was named e) were amplified by experiment,180samples were successfully sequenced. Through comparison, there was no mutation occur in COPD skeletal muscle atrophy group, skeletal muscle non-atrophy group and age matched normal controls. Two sites were all G allele. Samples were all homozygotes of GG type. So we did not compare genotypes and alleles between three groups. In target fragment R, the59th base C mutated into A in the10th sample; The108th base C was absent in the9th sample; The75th base C was absent in27th,31th,67th,68th,83th,84th,85th,86th,89th,95th,107th,117th,125th,140th and154th samples, the mutation rate of COPD skeletal muscle atrophy group was3.5%, the mutation rate of COPD skeletal muscle non-atrophy group was0%,the mutation rate of normal control was12.8%,there was no difference between COPD skeletal muscle atrophy group and normal control(0.5<P<0.75);The120th base A was absent in27th,31th,86th and107th samples, the mutation rate of COPD skeletal muscle atrophy group was4%, the mutation rate of COPD skeletal muscle non-atrophy group was0%,the mutation rate of normal control was6%,there was no difference between COPD skeletal muscle atrophy group and normal control(0.5<P <0.75).In target fragment e, a A base inserted into the68th and69th base in24th sample; the103th base A was absent in6th sample. All variations of single sample belong to individual difference. They were not gene polymorphisms.Conclusion:SNPs of two mutational sites of beta enolase were not discovered inthe population with the Han nationality in Kunming, and did not correlate to skeletal muscle atrophy in COPD patients in Kunming.We should screen other SNPs of beta enolase gene which associate with skeletal muscle atrophy in COPD.