1.Correlation of LIPC C480T (rs1800588) polymorphism with lipid metabolism in Han Chinese population
Xiaohua TAN ; Chunhong DI ; Baodong WANG ; Qiang MENG ; Xianhong HUANG ; Man LAN ; Lei YANG
Chinese Journal of Laboratory Medicine 2012;35(10):905-911
Objective To investigate the association of the LIPC-C480T (rs1800588) and lipid levels and dyslipidemia in different age-and-sex groups in Han Chinese population.Methods The serum TC,TG,LDL-C and HDL-C were detected by automatic biochemical analyzer in 2420 health adults (1527 men and 893 women).The genotypes of rs1800588 were detected by M ALDI-TOF MS.According to the age difference (≤44,45-59 and ≥60-year-old),the total samples were divided to young (241 men and 201 women),middle-aged (652 men and 360 women) and older (634 men and 332 women) groups.The effects of genotypes on 4 serum lipid indicators in each age-and-gender group were analyzed by one way analysis of variance (ANOVA),and the odd risk of genotypes on dyslipidemia was estimated by binary Logistic regression analysis.The P value less than 0.05 was considered statistically significant.Results The frequence of allele T for LIPC rs1800588 in this population is 39.4%.In each age group the lipid parameters are quite different between males and females.Compared with those with CC genotype,middle-aged and elder men with CT or TT genotype have higher TC and HDL-C levels,and elder men with TT genotype also have higher TC level ; young women bearing CT genotype have higher TC level,and the CT and TT genotypes have higher HDL-C levels,middle aged women with CT or TT genotype have higher TC and TG levels,and CT genotype also have higher HDL-C level,the elder women with TT genotype have higher HDL-C level.Compared with those CC genotype individuals,the risk for mixed hyperlipidemia and hypercholesterolemia increases 2.318 folds (P =0.004) and 2.571 folds (P < 0.001) respectively,while the risk for low HDL-C decreases 1.908 folds (P =0.029) for TT genotypes individuals among elder males; the hypercholesterolemia risk increasc 1.688 (P =0.036) and 2.099 times (P =0.040) in CT and TT genotypes respectively,and the risks for hypertriglyceridemia and mixed hyperlipidemia are 2.060 (P =0.038) and 2.381 (P =0.019) times higher than those with CC genotype among middle-aged females.Conclusions The LIPC rs1800588 site associates with the lipid levels and dyslipidmia risk in Han Chinese in an age-and-sex model.This SNP site has higher impact on lipid levels and dyslipidemia among elder males and middle-aged females,and the T allele is the risk factor.
2.Peri-operative nursing of minimally invasive surgery on osteoradionecrosis of skull base after radiotherapy for nasopharyngeal carcinoma
Jintao ZHANG ; Chunhong LIU ; Hui XIA ; Qingyu JIANG ; Xiaoyan HUANG ; Yiliang LI ; Guiping LAN
Chinese Journal of Practical Nursing 2013;29(34):32-34
Objective This paper summarize peri-operative nursing of minimally invasive surgery on osteoradionecrosis of skull base after radiotherapy for nasopharyngeal carcinoma.Methods 47 cases of osteoradionecrosis of skull base after radiotherapy for nasopharyngeal carcinoma were operated via nasal endoscope from March 2006 to March 2013.Focused peri-operative psychological support and adequate medical care were given to patients.Strengthened nasal nasopharyngeal cavity nursing,the observation and nursing of complications were carried out after operation and health guidance pre-discharge was given.Results The operations of 47 cases were successful and no major complication of intra-operation and post-operation occurred.Headache and foul odor relieved after operation.The follow-up continued for 3 to 84 months,46 cases were survived,1 case died of nasopharyngeal massive bleeding.Conclusions Effective peri-operative nursing of minimally invasive surgery on osteoradionecrosis of skull base after radiotherapy could ensure patients' cooperation and the smooth implementation of surgery and improve the quality of life.
3.Study of the association of lncRNA-GAS5 gene polymorphisms with systemic lupus erythematosus in Guangxi population.
Yulan LU ; Yan LAN ; Huatuo HUANG ; Yanxin HUANG ; Yuxia WEI ; Chunfang WANG ; Chunhong LIU
Chinese Journal of Medical Genetics 2023;40(1):114-120
OBJECTIVE:
To assess the association of rs55829688 and rs75315904 polymorphisms of the lncRNA-GAS5 gene with susceptibility to systemic lupus erythematosus (SLE) in Guangxi population.
METHODS:
Peripheral venous blood samples were collected from the SLE group and control group. Following extraction of genomic DNA, SNPscan and Sanger sequencing were carried out to determine the genotypes for the rs55829688 and rs75315904 loci of the lncRNA-GAS5 gene.
RESULTS:
No difference was found between the two groups with regard to the genotypic frequencies for rs55829688 and rs75315904 (P > 0.05). However, the frequencies of C allele of rs55829688 between the two groups was significantly different (P < 0.05). In the SLE group, the frequencies of C allele and CT+CC genotype for rs55829688 among SLE patients with nephritis were significantly lower than those of SLE patients without nephritis (P < 0.05). In addition, haplotype analysis showed that the frequency of rs55829688 C/rs75315904 A allele in the SLE group was lower than that of the control group (P < 0.05).
CONCLUSION
In Guangxi population, the carrier status of rs55829688 C allele of the lncRNA-GAS5 gene may reduce the risk of SLE and its complicated nephritis, and the rs55829688 C/rs75315904 A haplotype may reduce the risk for SLE.
Humans
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Case-Control Studies
;
China/epidemiology*
;
Gene Frequency
;
Genetic Predisposition to Disease
;
Genotype
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Lupus Erythematosus, Systemic/genetics*
;
Nephritis
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Polymorphism, Single Nucleotide
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RNA, Long Noncoding/genetics*
4.Effects and mechanism of pressure treatment on hemodynamic changes in patients with hypertrophic scar secondary to extensive burns
Chunhong SONG ; Jingbo LI ; Wei LAN ; Shangqing CHEN ; Yanzhi LIU ; Xueliang JI ; Xianfeng YI ; Yueqing LIN ; Tianbao SUN
Chinese Journal of Burns 2022;38(12):1126-1132
Objective:To investigate the hemodynamic changes of the main arteries and veins of the extremities and the heart in patients with hypertrophic scar secondary to extensive burns after pressure treatment, and to analyze the relevant mechanisms.Methods:A retrospective before-after self-control study was conducted. From January 2017 to February 2022, 37 patients with hypertrophic scar secondary to extensive burns who met the inclusion criteria were hospitalized in the Burn Rehabilitation Department of Guangdong Industrial Injury Rehabilitation Hospital, including 25 males and 12 females, aged 23-52 years. The patients were admitted to the hospital within 12 weeks after wound healing, and within one week after admission, rehabilitation therapists, occupational therapists, and tailors custom-made pressure products such as full-body pressure garment, pressure pants, vests, split finger gloves, split finger socks, hoods, and plastic collars, with the pressure at each part maintained at 2.67-4.00 kPa when wearing. Before the first treatment with pressure products (hereinafter referred to as before pressure treatment) and at 1 h of the first treatment with pressure products (hereinafter referred to as 1 h of pressure treatment), color Doppler ultrasonography was performed to check the pulse rate of the axillary artery, the lumen diameter, peak systolic velocity (PSV), and resistance index of the axillary artery and femoral artery on the left side, the lumen diameter, cross-sectional area, and average blood flow velocity of the axillary vein and femoral vein, and the mitral valve E peak, mitral valve A peak, tricuspid valve E peak, aortic valve PSV, and pulmonary valve PSV of the heart; an optical chromatographic skin detector was used to detect the red color, red pigment, and surface brightness of the scar on the back of the hand to reflect the filling and distribution of the scar microvessels. Data were statistically analyzed with paired sample t test. Results:Compared with those before pressure treatment, the PSV of the axillary artery of patients was significantly slowed down at 1 h of pressure treatment ( t=55.42, P<0.01); the average blood flow velocity of the axillary vein was significantly accelerated ( t=-60.50, P<0.01); the pulse rate, lumen diameter, and resistance index of the axillary artery, as well as the lumen diameter and cross-sectional area of the axillary vein did not change obviously ( P>0.05); the average blood flow velocity of the femoral vein was significantly accelerated ( t=-80.52, P<0.01); the lumen diameter, PSV, and resistance index of the femoral artery, as well as the lumen diameter and cross-sectional area of the femoral vein had no significant change ( P>0.05); the mitral valve E peak and mitral valve A peak of the heart decreased significantly (with t values of 10.71 and 21.96, respectively, P<0.01); the tricuspid valve E peak of the heart increased significantly ( t=7.57, P<0.01); the PSV of the aortic valve and pulmonary valve of the heart did not change obviously ( P>0.05). At 1 h of pressure treatment, the red color and red pigment values of the scar on the back of the hand of patients were 15.3±1.1 and 16.8±1.2, respectively, which were significantly lower than 24.5±1.3 and 23.8±1.2 before pressure treatment (with t values of 8.32 and 8.04, respectively, P<0.01). The brightness value of the scar surface on the back of the hand of patients at 1 h of pressure treatment was similar to that before pressure treatment ( P>0.05). Conclusions:After pressure treatment for the hypertrophic scar in patients secondary to extensive burn, the average blood flow velocity of the axillary vein and femoral vein in patients are obviously accelerated, the PSV of the axillary artery is significantly slowed down, the peak values of mitral valve E and mitral valve A of the heart are significantly decreased, and the tricuspid valve E peak is significantly increased. These hemodynamic changes may be related to the reduction of microvascular blood flow in the local area of scar after systemic pressure treatment.
5.Polymorphism distribution of 5bp insertion/deletion in promoter region of LncRNA [STHX] GAS5 gene in population of Guangxi district
Chunhong LIU ; Yulan LU ; Huatuo HUANG ; Yan WANG ; Chunfang WANG ; Yan LAN ; Yesheng WEI
Chinese Journal of Clinical Laboratory Science 2019;37(8):603-607
Objective:
To investigate the characteristics of polymorphism distribution at the functional insertion/deletion locus rs145204276I/D in the promoter region of LncRNA GAS5 (growth-arrest specific transcript 5) gene in population of Guangxi district, and analyze the differences of polymorphism distribution of rs145204276I/D in the populations between Guangxi and other regions.
Methods:
SNPscan high-throughput sequencing technique was used to detect rs145204276I/D locus in genotype of GAS5 gene of 289 subjects from Guangxi district, and the distribution frequencies of genotypes and alleles between different genders were analyzed. The differences of polymorphism distribution were compared with those in the database from the population of European (EUR), Japanese in Tokyo (JPT), South Asian (SAS), Admixed American (AMR), African (AFR), Chinese Han in Beijing (CHB), Nanjing, Jilin, Chongqing and Kunming which were published by 1000 genome project or reported in literatures.
Results:
The frequencies of I/I, I/D and D/D genotypes of rs145204276I/D in GAS5 were 48.4%, 43.6% and 8.0%, respectively. The frequencies of I and D alleles were 70.2% and 29.8%, respectively. No significant difference of genotype and allele frequencies of rs145204276I/D was observed between different genders in Guangxi population ( P >0.05). The genotype and allele frequencies of rs145204276I/D in Guangxi population were significantly different from JPT, EUR, AFR, SAS and AMR populations ( P <0.05), but were not significantly different from those of Chinese Han population in Beijing, Nanjing, Jilin, Chongqing and Kunming ( P >0.05).
Conclusion
The distribution of LncRNA GAS5 gene rs145204276I/D polymorphism in Guangxi population was not different between men and women, and the polymorphism of LncRNA GAS5 gene was different from those of other regions in the world.
6.A study on genetic polymorphisms of rs600231 and rs4102217 loci in promoter of MALAT1 gene in Guangxi population
Yan WANG ; Chunhong LIU ; Tan TAN ; Ming LEI ; Yanyun HUANG ; Yan LAN ; Yesheng WEI
Chinese Journal of Clinical Laboratory Science 2019;37(12):941-945
Objective:
To investigate the single nucleotide polymorphisms (SNPs) of rs600231A/G and rs4102217 G/C in the promoter region of MALAT1 (metastasis associated in lung adenocarcinoma transcript 1) gene in the healthy population of Guangxi district and analyze the differences in the population among different regions.
Methods:
The genotypes of rs600231A/G and rs4102217G/C of 207 healthy individuals in Guangxi were detected by SNPscan high-throughput technique. The genotype and allele frequency distributions were analyzed statistically with the data of HapMap-CEU (European population), HapMap-HCB (Beijing Han population), HapMap-JPT (Japanese population) and HapMap-YRI (African population) published by Human genome Haplotype Map (HapMap).
Results:
There were three genotypes of AA (38.2%), AG (46.4%) and GG (15.4%) in rs600231A/G, and the differences were significantly different compared with the polymorphism of Japan and Africa population (HapMap-JPT and HapMap-YRI) (P<0.05). Compared with HapMap-CEU, the genotype difference was not statistically significant (P>0.05), but the allele distribution was statistically different (P<0.05). The rs4102217 G/C polymorphism contained GG(75.4%), CG(23.2%) and CC(1.4%), and the polymorphisms were significantly different from those in European and Japanese populations (P<0.05). There was no significant difference between gender in the polymorphisms of the two loci (P>0.05).
Conclusion
The polymorphisms of rs600231A/G and rs4102217G/C in the MALAT1 promoter region were found in Guangxi healthy population, and the distribution of polymorphisms may be different in the population of various regions.
7.The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery
Sun JING ; Zhang YANFANG ; Wang MINHUI ; Guan QIAN ; Yang XIUJIA ; Ou Xia JIN ; Yan MINGCHEN ; Wang CHENGRUI ; Zhang YAN ; Li ZHI-HAO ; Lan CHUNHONG ; Mao CHEN ; Zhou HONG-WEI ; Hao BINGTAO ; Zhang ZHENHAI
Genomics, Proteomics & Bioinformatics 2020;18(5):516-524
Identification of genetic variants via high-throughput sequencing (HTS) technologies has been essential for both fundamental and clinical studies. However, to what extent the genome sequence composition affects variant calling remains unclear. In this study, we identified 63,897 multi-copy sequences (MCSs) with a minimum length of 300 bp, each of which occurs at least twice in the human genome. The 151,749 genomic loci (multi-copy regions, or MCRs) harboring these MCSs account for 1.98%of the genome and are distributed unevenly across chromosomes. MCRs containing the same MCS tend to be located on the same chromosome. Gene Ontology (GO) anal-yses revealed that 3800 genes whose UTRs or exons overlap with MCRs are enriched for Golgi-related cellular component terms and various enzymatic activities in the GO biological function cat-egory. MCRs are also enriched for loci that are sensitive to neocarzinostatin-induced double-strand breaks. Moreover, genetic variants discovered by genome-wide association studies and recorded indbSNP are significantly underrepresented in MCRs. Using simulated HTS datasets, we show that false variant discovery rates are significantly higher in MCRs than in other genomic regions. These results suggest that extra caution must be taken when identifying genetic variants in the MCRs via HTS technologies.
8.A time series study on the effect of low air pollution level of NO2 on the death of cardiovascular and cerebrovascular diseases in residents
Zesheng CHEN ; Xiuqing CUI ; Bin WANG ; Yanlin HU ; Lan DAI ; Xueqin CAO ; Chunhong WANG ; Tingming SHI
Journal of Public Health and Preventive Medicine 2022;33(1):27-31
Objectives To investigate the effects of low level of ambient NO2 on the death of cardiovascular and cerebrovascular diseases in Enshi city and to identify sensitive population, so as to provide a scientific basis for formulating health policies. Methods The data of air pollutants, meteorological factors and death of cardiovascular and cerebrovascular diseases in Enshi city from 2015 to 2018 were collected. The generalized additive model based on Poisson distribution was used to analyze the effects of low ambient NO2 level on the death risk of cardiovascular and cerebrovascular diseases in Enshi city. A subgroup analysis was performed on age, gender, and season. Results The average concentrations of major gaseous air pollutants in Enshi city from 2015 to 2018 were NO2 (21.40 μg/m3), SO2 (9.68 μg/m3), CO (0.88 mg/m3), and O3 (61.21 μg/m3), respectively, all of which did not exceed the national secondary standard. The results of single pollutant model analysis showed that each 1 μg/m3 increase in NO2 concentration in lag0 day was associated with a 0.33% increase (95% CI: 0.06 - 0.72) (P>0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the female population, each 1 μg/m3 increase in NO2 concentration in lag01 day was associated with a 0.92% increase (95% CI: 0.26 - 1.56) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the cold season, each 1 μg/m3 increase in NO2 concentration in lag0 day was associated with a 0.62% increase (95% CI: 0.12 - 1.12) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. The results of the two-pollutant model showed that after controlling other gaseous pollutants (SO2, CO or O3), the effect of NO2 on the mortality risk of cardiovascular and cerebrovascular diseases in women and the whole population in cold season still existed. Conclusion The low ambient level of NO2 in Enshi city was significantly associated with increased mortality risk of cardiovascular and cerebrovascular diseases in female population as well as in cold seasons in the whole population. Attention should be paid to the health protection of special populations in areas with low ambient pollution level of NO2 in special seasons.
9.Death cause and life loss analysis of permanent residents in Enshi City during 2013-2018
Xueqin CAO ; Xiuqing CUI ; Bin WANG ; Yanlin HU ; Lan DAI ; Shuxia LIU ; Shuguang XIE ; Chunhong WANG ; Tingming SHI
Journal of Public Health and Preventive Medicine 2021;32(1):27-31
Objective To analyze the basic characteristics and variation trend of death causes of permanent residents in Enshi City during 2013-2018, to assess the burden of different diseases, and to provide a scientific basis for formulating disease prevention and control strategies. Methods The death monitoring data of permanent residents in Enshi City, Hubei Province from 2013 to 2018 was collected. The crude mortality, standardized mortality, life expectancy, potential years of life loss (PYLL), standard potential years of life loss (SPYLL), average years of life lost (AYLL), and annual percentage change (APC) were calculated to describe the distribution and trend of death causes. Results The average annual crude death rate and standardized death rate of residents in Enshi City from 2013 to 2018 were 679.43 per 100 000 and 615.02 per 100 000, respectively. The top 5 causes of death were circulatory system diseases, respiratory system diseases, malignant tumors, injuries, and digestive system diseases, accounting for 91.2% of the total deaths. Analysis of life expectancy found that the average life expectancy of local residents from 2013 to 2018 was 78.02 years, and the value in the male group (75.57 years) was lower than that in the female group (80.78 years). Life loss analysis revealed that PYLL caused by various diseases was 171 620 person-years, SPYLL was 171 284.62 person-years, and AYLL was 15.03 years/person in Enshi City from 2013 to 2018. Among all the death causes, the top five in terms of life loss were injuries, malignant tumors, circulatory diseases, respiratory diseases and digestive diseases. Conclusion From 2013 to 2018, the death rate of residents in Enshi City was relatively higher compared with those in other cities in China, the average annual crude death rate was on the rise, and the average annual standardized death rate was on the decline, indicating a highly ageing region. Chronic diseases such as circulatory system diseases, malignant tumors, and respiratory diseases, as well as injuries were the main death causes and caused a heavy burden of diseases, which should be the focus of future prevention and control work. Considering the higher levels of death and life loss indicators of male residents than those of women, targeted prevention and control measures should be taken to narrow the gap between men and women and improve the overall life quality of the whole population.