2.Surfactant protein B 1580 polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Han population.
Ruicheng HU ; Yongjian XU ; Zhenxiang ZHANG
Journal of Huazhong University of Science and Technology (Medical Sciences) 2004;24(3):216-238
Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively. The results showed that there was significant difference in genotypes distribution frequency of SP-B1580C/T polymorphism locus between COPD smokers and control smokers. C-->T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9% vs 41.7%, chi2 = 4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1%) of SP-B1580-18A/C locus is lower than T allele (70.9%) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85% and 15% respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.
Alleles
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China
;
ethnology
;
Female
;
Genetic Predisposition to Disease
;
genetics
;
Genotype
;
Humans
;
Male
;
Polymorphism, Genetic
;
genetics
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Pulmonary Disease, Chronic Obstructive
;
genetics
;
Pulmonary Surfactant-Associated Protein B
;
genetics
;
physiology
;
Smoking
;
genetics
3.Polymorphism of interleukin-10 gene promoter and its association with susceptibility to chronic obstructive pulmonary disease in Chinese Han people.
Rui-cheng HU ; Yong-jian XU ; Zhen-xiang ZHANG ; Jun-gang XIE
Chinese Journal of Medical Genetics 2003;20(6):504-507
OBJECTIVETo investigate the polymorphism of interleukin-10 (IL-10) gene promoters in Chinese Han people, and to disclose whether such polymorphism is associated with susceptibility to chronic obstructive pulmonary disease (COPD).
METHODSAfter the process of extracting genomic DNA from blood of 94 health smokers and 88 COPD smokers by use of phenol-chloroform-isoamyl alcohol, three single nucleotide polymorphism (SNP) sites in IL-10 gene promoter marked as -1082G/A,-819C/T,-592C/A were determined by polymerase chain reaction/restriction fragment length polymorphism analysis.
RESULTSEleven different promoter genotypes were detected from all of the 182 smokers, and AA*TT*AA, AA*TC*AC, AA*TC*AA genotypes accounted for about 80% of genotypes in the research subjects. Two previously unreported haplotypes of IL-10 gene promoter (ATC and ACA) were found in Chinese Han people by analyzing the promoter genotypes. -1082G/A and -592C/A SNP sites polymorphisms were not associated with susceptibility to COPD, whereas the genotypes of -819C/T SNP site were associated with susceptibility to COPD in Chinese Han people. In respect to the alleles frequencies of the three SNP sites respectively, the Chinese Hans were similar to Japanese, but different from whites.
CONCLUSIONPolymorphism of IL-10 -819C/T SNP site is associated with susceptibility to COPD in Chinese Han people; at least five haplotypes of IL-10 gene promoter (ATA, ACC, GCC, ATC and ACA) exist in Chinese Han people.
Aged ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-10 ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Pulmonary Disease, Chronic Obstructive ; genetics
4.Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases.
Jungang XIE ; Yongjian XU ; Zhenxiang ZHANG ; Wang NI ; Shixin CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2004;24(1):28-31
In order to investigate whether polymorphism in gene for heat shock protein 70 (HSP70) has any bearing on individual susceptibility to the development of chronic obstructive pulmonary disease (COPD), the geotypes of 88 patients with COPD and 87 healthy smoking control subjects were tested by polymerase chain reaction followed by restriction fragment polymorphism analysis for HSP70 gene. In COPD group, HSP70-1 genotype A/A, A/B and B/B was 59.1%, 35.2% and 5.7%, HSP70-2 genotype A/A, A/B and B/B was 26.1%, 54.6% and 19.3%, and HSP70-hom genotype A/A, A/B and B/B was 70.4%, 27.3% and 2.3% respectively. In the control group, it was 60.9%, 27.5% and 3.5%, 20.7%, 56.3% and 23.0%, and 54.0%, 42.5% and 3.5%, respectively. The frequency of polymorphic genetypes showed no difference between the COPD group and the control group (P>0.05). It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.
China
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ethnology
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Ethnic Groups
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Genetic Predisposition to Disease
;
genetics
;
HSP70 Heat-Shock Proteins
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genetics
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Humans
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Polymorphism, Restriction Fragment Length
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Pulmonary Disease, Chronic Obstructive
;
genetics
;
Smoking
5.Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases.
Jungang, XIE ; Yongjian, XU ; Zhenxiang, ZHANG ; Wang, NI ; Shixin, CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2004;24(1):28-31
In order to investigate whether polymorphism in gene for heat shock protein 70 (HSP70) has any bearing on individual susceptibility to the development of chronic obstructive pulmonary disease (COPD), the geotypes of 88 patients with COPD and 87 healthy smoking control subjects were tested by polymerase chain reaction followed by restriction fragment polymorphism analysis for HSP70 gene. In COPD group, HSP70-1 genotype A/A, A/B and B/B was 59.1%, 35.2% and 5.7%, HSP70-2 genotype A/A, A/B and B/B was 26.1%, 54.6% and 19.3%, and HSP70-hom genotype A/A, A/B and B/B was 70.4%, 27.3% and 2.3% respectively. In the control group, it was 60.9%, 27.5% and 3.5%, 20.7%, 56.3% and 23.0%, and 54.0%, 42.5% and 3.5%, respectively. The frequency of polymorphic genetypes showed no difference between the COPD group and the control group (P>0.05). It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.
China/ethnology
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Ethnic Groups
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Genetic Predisposition to Disease/*genetics
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HSP70 Heat-Shock Proteins/*genetics
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*Polymorphism, Restriction Fragment Length
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Pulmonary Disease, Chronic Obstructive/*genetics
;
Smoking
6.Association of gene polymorphisms of tumour necrosis factor-alpha and interleukin-13 with chronic obstructive pulmonary disease in Han nationality in Beijing.
Ling JIANG ; Bei HE ; Ming-Wu ZHAO ; Lan-Ding NING ; Xiao-Ying LI ; Wan-Zhen YAO
Chinese Medical Journal 2005;118(7):541-547
BACKGROUNDGenetic factors are believed to play a role in the individual susceptibility to chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism (SNP) of tumour necrosis factor-alpha (TNF-alpha) has been reported but inconsistent results may arise from different populations and phenotypes of COPD. There are only a few published studies of interleukin-13 (IL-13) SNPs on COPD. The SNPs of TNF-alpha and IL-13 have not been studied in the Chinese population. This research was conducted to study the frequencies of IL-13 gene promoter 1055 (IL-13-1055) and TNF-alpha gene-308 polymorphisms in the patients with COPD and to investigate the effect of those genetic polymorphisms on COPD in the Chinese population.
METHODSA cohort of COPD patients and age matched controls were recruited from an inpatient hospital service in Beijing. Venous blood was obtained and genomic DNA was extracted from peripheral blood monocytes using standard method. Genomic DNA was used as a template for amplification by polymerase chain reaction (PCR) to determine the polymorphism at -1055 in the IL-13 gene promoter region. PCR restriction fragment length polymorphism (RFLP) was used to determine polymorphisms in the TNF-alpha gene-308 position. The products were investigated by sequence analysis also.
RESULTSOne hundred and eleven COPD patients and 97 controls were studied. Seventy-five cases were current smokers in COPD patients and 36 were current smokers in controls. The frequencies of TT genotype in the IL-13 gene promoter region were 11.7% (13/111) in the COPD group and 13.4% (13/97) in the controls (P = 0.713). However, the OR value of TT genotype was significantly increased to 6.4 (95% CI 1.62 - 25.39) in the smokers with COPD. TT genotype was also positively related to family history of COPD, OR = 7.7 (95% CI 1.37 - 43.80). The frequencies of A allele in the TNF-alpha gene were 5.9% in COPD and 3.1% in controls (P = 0.131). The OR value of A allele was 5.0 (95% CI 1.011 to 25.059) in smokers with COPD.
CONCLUSIONSThere is no significant difference in the frequencies of the TT genotype of IL-13-1055 or the A allele of the TNF-alpha between Han Chinese patients with COPD versus control. Thus, it does not appear that these SNPs are independent factors in COPD for Han nationality in Beijing. However, these SNPs may increase the risk of COPD among smokers.
Adult ; Aged ; China ; ethnology ; Female ; Genotype ; Humans ; Interleukin-13 ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Pulmonary Disease, Chronic Obstructive ; genetics ; immunology ; Tumor Necrosis Factor-alpha ; genetics
7.Survey and analyses of population at high risk of chronic obstructive pulmonary disease in China, 2014.
H L BAO ; S CONG ; N WANG ; J FAN ; Y J FENG ; B H WANG ; L H WANG ; L W FANG
Chinese Journal of Epidemiology 2018;39(5):580-585
Objective: To understand the distribution and characteristics of people aged ≥40 years who are at high risk of COPD in China and provide evidence for COPD prevention and control. Methods: The survey was conducted among the subjects selected through multi-stage stratified cluster sampling from 31 provinces (autonomous regions and municipalities) in China for 2014-2015 national chronic obstructive pulmonary disease surveillance. A total of 75 107 people aged ≥40 years in 125 surveillance points were surveyed in face to face interviews. Subjects who met at least one of the following conditions, including chronic respiratory symptoms, exposure to risk factors, medical history of respiratory diseases, and family history, were defined as population at high risk. The weighted proportion of the population at high risk of COPD and 95%CI were estimated by using complex sampling design. Results: Among eligible 74 296 subjects, the proportion of population at high risk of COPD was 89.5% (95%CI: 87.8%-91.2%). The proportion significantly increased with age (P<0.001). The proportion of the population at high risk was significantly higher in men than in women (P<0.001), and in rural area than in urban area (P<0.001). The highest proportion of population at high risk was observed in men in rural area in western China. The proportion of population at high risk of COPD who met at least two conditions was 32.0% (95%CI:29.7%-34.2%), the proportion of those who met at least three conditions was 7.4% (95%CI: 6.6%- 8.3%), and the proportion of those who met all the conditions was 1.5% (95%CI: 1.2%-1.8%). Among population at high risk of COPD, those who only had exposure to one risk factor accounted for 61.7% (95%CI: 59.8%-63.7%). Conclusion: About 90% of people aged ≥40 years in China are at high risk for COPD. It is necessary to conduct population-based screening for COPD and take comprehensive measures to reduce prevalence of risk factors.
Adult
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Asian People/statistics & numerical data*
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China/epidemiology*
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Female
;
Humans
;
Male
;
Prevalence
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Pulmonary Disease, Chronic Obstructive/ethnology*
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Risk Factors
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Rural Population
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Surveys and Questionnaires
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Urban Population
8.Surfactant protein B 1580 polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Han population.
Ruicheng, HU ; Yongjian, XU ; Zhenxiang, ZHANG
Journal of Huazhong University of Science and Technology (Medical Sciences) 2004;24(3):216-8, 238
Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively. The results showed that there was significant difference in genotypes distribution frequency of SP-B1580C/T polymorphism locus between COPD smokers and control smokers. C-->T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9% vs 41.7%, chi2 = 4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1%) of SP-B1580-18A/C locus is lower than T allele (70.9%) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85% and 15% respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.
Alleles
;
China/ethnology
;
Genetic Predisposition to Disease/*genetics
;
Genotype
;
Polymorphism, Genetic/*genetics
;
Pulmonary Disease, Chronic Obstructive/*genetics
;
Pulmonary Surfactant-Associated Protein B/*genetics
;
Pulmonary Surfactant-Associated Protein B/physiology
;
Smoking/genetics
9.Study on matrix metalloproteinase 1, 9, 12 polymorphisms and susceptibility to chronic obstructive pulmonary disease among Han nationality in northern China.
Rong-bao ZHANG ; Quan-ying HE ; Rui-hong YANG ; Bing-bing LU ; Yu-jing LIU
Chinese Journal of Epidemiology 2005;26(11):907-910
OBJECTIVETo study the association between the functional polymorphism of matrix metalloproteinases (MMPs) and the development of chronic obstructive pulmonary disease (COPD).
METHODS147 COPD patients and 120 healthy smoking controls were selected. Spirometry and chest X-rays had been taken. Questionnaires including sex, age, smoking history, occupational exposure were completed. MMP-9 (-1562 C/T), MMP-1(-1607 1G/2G), MMP-12 (-82 A/G), MMP-12(-357 Asn/ Ser) alleles were determined using PCR-RFLP method. Independent samples T test analysis was carried out to compare patients' age, smoking index, FEV1 /FVC, FEV1 % pred with that of healthy controlled group. The frequencies of genotypes and alleles between groups were analyzed by chi-square tests and multilogistic regression.
RESULTSMMP12 Asn/Asn, CT/AsnAsn were risk factors for smoking-induced COPD. The ORs were 2.361 (95% CI: 1.369-4.017) and 2.433(95% CI: 1.159-5.342) respectively while CC/1G1G/ SerSer seemed to be a protective factor for smoking-induced COPD, with OR as 0.457 and 95% CI as 0.231-0.911.
CONCLUSIONAsn/Asn, CT/AsnAsn might be susceptible genotypes while CC/GG/SerSer might serve as protective genotype.
Aged ; Case-Control Studies ; China ; ethnology ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Logistic Models ; Male ; Matrix Metalloproteinase 1 ; genetics ; Matrix Metalloproteinase 12 ; genetics ; Matrix Metalloproteinase 9 ; genetics ; Polymorphism, Genetic ; Pulmonary Disease, Chronic Obstructive ; genetics
10.Genetic polymorphism in matrix metalloproteinase-9 and the susceptibility to chronic obstructive pulmonary disease in Han population of south China.
Min ZHOU ; Shao-guang HUANG ; Huan-ying WAN ; Biao LI ; Wei-wu DENG ; Min LI
Chinese Medical Journal 2004;117(10):1481-1484
BACKGROUNDThere are many candidate genes for chronic obstructive pulmonary disease (COPD). Matrix metalloproteinase-9 (MMP-9) plays an essential role in tissue remodeling and repair associated with development of COPD. In this study we investigated the correlation between MMP-9 gene polymorphism and COPD susceptibility in the Han population of South China.
METHODSWe examined the frequency of polymorphic genotypes of the MMP-9 promoter (-1562C/T) in 100 COPD patients and 98 healthy smokers by restriction fragment length polymorphism.
RESULTSThe frequencies of polymorphic genotypes in promoters of MMP-9 were C/C 86%, C/T 14% in COPD group; and C/C 98%, C/T 2% in the control group. There were significant differences between the two groups (P < 0.01). The allele frequencies were also significantly different between the COPD group and the control group (C allele frequency: 93% vs 99%, T allele frequency: 7% vs 1%, P < 0.05 respectively).
CONCLUSIONThe genetic polymorphism in promoters of MMP-9 gene is associated with the susceptibility to COPD in the Han population of South China.
Adult ; Aged ; China ; ethnology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Matrix Metalloproteinase 9 ; genetics ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Pulmonary Disease, Chronic Obstructive ; genetics