1.Life's Essential 8 scores, socioeconomic deprivation, genetic susceptibility, and new-onset chronic kidney diseases.
Panpan HE ; Huan LI ; Mengyi LIU ; Ziliang YE ; Chun ZHOU ; Yanjun ZHANG ; Sisi YANG ; Yuanyuan ZHANG ; Xianhui QIN
Chinese Medical Journal 2025;138(15):1835-1842
BACKGROUND:
The American Heart Association recently released a new cardiovascular health (CVH) metric, Life's Essential 8 (LE8), for health promotion. However, the association between LE8 scores and the risk of chronic kidney disease (CKD) remains uncertain. We aimed to explore the association of LE8 scores with new-onset CKD and examine whether socioeconomic deprivation and genetic risk modify this association.
METHODS:
A total of 286,908 participants from UK Biobank and without prior CKD were included between 2006 and 2010. CVH was categorized using LE8 scores: low (LE8 scores <50), moderate (LE8 scores ≥50 but <80), and high (LE8 scores ≥80). The study outcome was new-onset CKD, ascertained by data linkage with primary care, hospital inpatient, and death data. Cox proportional hazard regression models were used to investigate the association between CVH categories and new-onset CKD.
RESULTS:
During a median follow-up of 12.5 years, 8857 (3.1%) participants developed new-onset CKD. Compared to the low CVH group, the moderate (adjusted hazards ratio [HR], 0.50; 95% confidence interval [CI]: 0.47-0.53) and high CVH (adjusted HR, 0.31; 95% CI: 0.27-0.34) groups had a significantly lower risk of developing new-onset CKD. The population-attributable risk associated with high vs. intermediate or low CVH scores was 40.3%. Participants who were least deprived ( vs. most deprived; adjusted HR, 0.75; 95% CI: 0.71-0.79) and with low genetic risk of CKD ( vs. high genetic risk; adjusted HR, 0.89; 95% CI: 0.85-0.94) had a significantly lower risk of developing new-onset CKD. However, socioeconomic deprivation and genetic risks of CKD did not significantly modify the relationship between LE8 scores and new-onset CKD (both P -interaction >0.05).
CONCLUSION
Achieving a higher LE8 score was associated with a lower risk of developing new-onset CKD, regardless of socioeconomic deprivation and genetic risks of CKD.
Humans
;
Renal Insufficiency, Chronic/epidemiology*
;
Male
;
Female
;
Middle Aged
;
Genetic Predisposition to Disease/genetics*
;
Aged
;
Risk Factors
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Adult
;
Proportional Hazards Models
;
Socioeconomic Factors
2.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
;
Case-Control Studies
;
China/epidemiology*
;
Gene Frequency
;
Genetic Predisposition to Disease
;
Genotype
;
Lupus Erythematosus, Systemic/genetics*
;
Nephritis
;
Polymorphism, Single Nucleotide
;
RNA, Long Noncoding/genetics*
3.Association between genetic predisposition to childhood obesity and the risk of adult ischemic heart disease in China.
Wen Xiu WANG ; Ning Hao HUANG ; Jun LYU ; Can Qing YU ; Yu GUO ; Pei PEI ; Huai Dong DU ; Jun Shi CHEN ; Zheng Ming CHEN ; Tao HUANG ; Li Ming LI
Chinese Journal of Epidemiology 2022;43(4):445-451
Objective: To examine the associations of childhood obesity, assessed by genetic variations of childhood body mass index (BMI), with the risk of adult ischemic heart disease (IHD) and major coronary event (MCE). Methods: More than 69 000 participants from the China Kadoorie Biobank were genotyped. After excluding those with coronary heart disease, stroke, or cancer at baseline, a total of 64 454 participants were included in this study. Based on genome-wide significant single nucleotide polymorphisms (SNPs), childhood BMI genetic risk score were constructed for every participant and divided into quintiles, with the lowest quintile as the low genetic risk group and the highest quintile as the high genetic risk group. Cox proportional hazards regression models were used to estimate the association between genetic predisposition to childhood obesity and the risk of ischemic heart disease. Results: During a median of 10.7 years of follow-up, 7 073 incident cases of IHD and 1 845 cases of MCE were documented. After adjusting for sex, age, region, and the first ten genetic principal components, the HRs (95%CIs) for IHD and MCE in the high genetic risk group were 1.10 (1.02-1.18) and 1.10 (0.95-1.27), compared with the low genetic risk group. IHD risk increased by 4% (2%-6%) for each one standard deviation increase in genetic risk score (trend P=0.001). After further adjustment for baseline BMI, the differences between genetic risk groups were not statistically significant, but there was still a linear trend between genetic risk score and IHD risk (trend P=0.019). Conclusions: IHD risk increased with genetic predisposition to childhood obesity, suggesting that childhood obesity is an important risk factor for the development of IHD in China. As an easily identifiable feature, changes of childhood BMI should be monitored regularly to realize early intervention of IHD in adults.
Adult
;
Body Mass Index
;
Child
;
China/epidemiology*
;
Genetic Predisposition to Disease
;
Humans
;
Myocardial Ischemia/genetics*
;
Pediatric Obesity/genetics*
;
Prospective Studies
;
Risk Factors
4.Lack of association between multiple polymorphisms in aryl hydrocarbon receptor (AhR) gene and cancer susceptibility.
He LI ; Li LUO ; Dan WANG ; Jun DUAN ; Rui ZHANG
Environmental Health and Preventive Medicine 2020;25(1):79-79
BACKGROUND:
The aryl hydrocarbon receptor (AhR) is commonly known as an environmental sensor. Polymorphisms in AhR gene have been implicated in susceptibility to cancer. However, the results were controversial. This study was conducted to quantitatively summarize the association between AhR polymorphisms and cancer risk by meta-analysis.
METHODS:
Relevant reports were searched in four databases (Embase, PubMed, Wanfang, and China National Knowledge Infrastructure). We used pooled odds ratio (OR) and 95% confidence interval (95% CI) to evaluate the strength of the association in both standard and cumulative meta-analysis. Subgroup and sensitivity analysis was also performed, and between-study heterogeneity and publication bias were checked.
RESULTS:
A total of seventeen studies referring to three AhR polymorphisms (rs2066853, rs7796976, and rs2074113) were identified, and 9557 cases and 10038 controls were included. There was no statistically significant association of AhR rs2066853 polymorphism with cancer risk in the overall population, and the negative results were repeated in subgroup analysis by the ethnicity and cancer type. Concerning AhR rs7796976 or rs2074113 polymorphism, no significant correlation was detected. Moreover, these non-significant findings were stable in sensitivity analysis, and the cumulative meta-analysis indicated a trend of no significant link between this three AhR polymorphisms and cancer risk as more data accumulated over time.
CONCLUSION
This meta-analysis provides evidence that the rs2066853, rs7796976, or rs2074113 polymorphism in AhR gene is not a susceptible predictor of cancer. Further clinical and functional investigation between AhR polymorphisms and cancer susceptibility are needed.
Basic Helix-Loop-Helix Transcription Factors/genetics*
;
Confidence Intervals
;
Genetic Predisposition to Disease/epidemiology*
;
Humans
;
Neoplasms/genetics*
;
Odds Ratio
;
Polymorphism, Genetic
;
Receptors, Aryl Hydrocarbon/genetics*
5.Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy.
Dong-Fei WANG ; Jia-Lan LYU ; Juan FANG ; Jian CHEN ; Wan-Wan CHEN ; Jia-Qi HUANG ; Shu-Dong XIA ; Jian-Mei JIN ; Fang-Hong DONG ; Hong-Qiang CHENG ; Ying-Ke XU ; Xiao-Gang GUO
Journal of Zhejiang University. Science. B 2019;20(9):766-775
OBJECTIVE:
Mutations in LIM domain binding 3 (LDB3) gene cause idiopathic dilated cardiomyopathy (IDCM), a structural heart disease with a complicated genetic background. However, the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.
METHODS:
We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls. Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM. Additionally, we conducted a stratified genotype-phenotype correlation analysis.
RESULTS:
The A allele of rs4468255 was significantly associated with IDCM (P<0.01). The rs4468255, rs11812601, rs56165849, and rs3740346 were also associated with diastolic blood pressure (DBP) and left ventricular ejection fraction (LVEF) (P<0.05). Notably, a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator (ICD) recipients under a recessive model (P<0.01), whereas the significant association disappeared after adjusting for potential confounders. However, in the dominant model, notable correlations could only be observed after adjusting for multi parameters.
CONCLUSIONS
The rs4468255 was significantly correlated with IDCM of Chinese Han population. A allele of rs4468255 is higher in IDCM patients with ICD implantation, suggesting the influence of genetic background in the generation of this response. In addition, rs11812601, rs56165849, and rs3740346 in LDB3 show association with brain natriuretic peptide, DBP, and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
Adaptor Proteins, Signal Transducing/genetics*
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Adult
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Aged
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Alleles
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Asian People
;
Cardiomyopathy, Dilated/surgery*
;
China/epidemiology*
;
Defibrillators, Implantable
;
Exons
;
Female
;
Genetic Association Studies
;
Genetic Predisposition to Disease
;
Genotype
;
Humans
;
LIM Domain Proteins/genetics*
;
Linkage Disequilibrium
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Male
;
Middle Aged
;
Mutation
;
Polymorphism, Genetic
;
Sequence Analysis, DNA
7.Significant Polymorphisms of Vitamin D Receptor Gene (rs2189480 and rs3847987) Related to the Risk of Type 2 Diabetes in Henan Rural Area.
Han HAN ; Ming Xu ZHAO ; Yan WANG ; Jun WANG ; Bing Nan REN ; Hui Na GE ; Teng WANG ; Bei Bei SUN ; Yue BA ; Wen Jie LI
Biomedical and Environmental Sciences 2019;32(1):58-62
8.Short stature-related single-nucleotide polymorphism (SNP) activates endothelial repair activity in elderly Japanese.
Yuji SHIMIZU ; Hirotomo YAMANASHI ; Yuko NOGUCHI ; Jun KOYAMATSU ; Mako NAGAYOSHI ; Kairi KIYOURA ; Shoichi FUKUI ; Mami TAMAI ; Shin-Ya KAWASHIRI ; Kazuhiko ARIMA ; Takahiro MAEDA
Environmental Health and Preventive Medicine 2019;24(1):26-26
BACKGROUND:
Hypertension and atherosclerosis are bidirectionally related, while platelet count could serve as an indicator of endothelial repair. Therefore, high platelet counts could be associated with hypertension by indicating more intense endothelial repair activity. Furthermore, short stature has been shown to constitute a risk of atherosclerosis. Since inflammation-related single-nucleotide polymorphism (SNP (rs3782886)) is reportedly associated with myocardial infarction and short stature, rs3782886 could be associated with a high platelet count and thus more intense endothelial repair activity.
METHODS:
We conducted a cross-sectional study of 988 elderly Japanese who participated in a general health check-up. Short stature was defined as a height of at or under the 25th percentile of the study population, and high platelet count as the highest tertiles of the platelet levels.
RESULTS:
High platelet counts were found to be independently and positively associated with hypertension while rs3782886 was independently associated with high platelet levels and short stature. The classical cardiovascular risk factor-adjusted odds ratio (OR) and 95% confidence interval (CI) of high platelet count for hypertension was 1.34 (1.02, 1.77). With non-minor homo of the rs3782886 as the reference group, the adjusted OR and 95% CI for high platelet count and short stature of minor home were 2.40 (1.30, 4.42) and 2.21 (1.16, 4.21), respectively.
CONCLUSION
SNP (rs3782886) was shown to be associated with high platelet count and short stature. This result partly explains how a genetic factor can influence the impact of height on endothelial repair.
Aged
;
Aged, 80 and over
;
Blood Platelets
;
metabolism
;
Body Height
;
genetics
;
Cross-Sectional Studies
;
Endothelium, Vascular
;
physiology
;
Female
;
Genetic Association Studies
;
Genetic Predisposition to Disease
;
Genotype
;
Humans
;
Hypertension
;
blood
;
epidemiology
;
genetics
;
Male
;
Middle Aged
;
Odds Ratio
;
Platelet Count
;
Polymorphism, Single Nucleotide
9.Fat-to-muscle Ratio: A New Anthropometric Indicator for Predicting Metabolic Syndrome in the Han and Bouyei Populations from Guizhou Province, China.
Ke XU ; Hui Juan ZHU ; Shi CHEN ; Lu CHEN ; Xin WANG ; Li Yuan ZHANG ; Li PAN ; Li WANG ; Kui FENG ; Ke WANG ; Fen DONG ; Ding Ming WANG ; Yang Wen YU ; Hui PAN ; Guang Liang SHAN
Biomedical and Environmental Sciences 2018;31(4):261-271
OBJECTIVETo investigate the prevalence and possible factors influencing metabolic syndrome in people from Guizhou Province and to explore the predictive value of the fat-to-muscle ratio in diagnosing metabolic syndrome.
METHODSA multistage stratified sampling method was used in this cross-sectional study of 20-80 years old Han and Bouyei populations from Guizhou Province, southwestern China, from October-December 2012. The study included 4,553 cases of metabolic syndrome, that was defined according to 2005 International Diabetes Federation criteria. The receiver operating characteristic curve was used for determining the sensitivity, specificity, and predictive ability of the fat-to-muscle ratio for the diagnosis of metabolic syndrome.
RESULTSThe age-standardized prevalence of metabolic syndrome was 11.38% (men: 9.76%; women: 12.72%) for Han and 4.78% (men: 4.43%; women: 5.30%) for Bouyei populations. In Guizhou Province, the cut-off value for the men fat-to-muscle ratio was 0.34, the area under the curve was 0.95, and the sensitivity and specificity were 0.94 and 0.85, respectively. The cut-off value for the women fat-to-muscle ratio was 0.55, the area under the curve was 0.91, and the sensitivity and specificity were 0.93 and 0.79, respectively.
CONCLUSIONThe fat-to-muscle ratio is highly predictive of metabolic syndrome in Guizhou Province, and a useful reference indicator.
Adipose Tissue ; physiology ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; Body Composition ; genetics ; physiology ; China ; epidemiology ; Genetic Predisposition to Disease ; Humans ; Metabolic Syndrome ; epidemiology ; genetics ; Middle Aged ; Muscle, Skeletal ; physiology ; Young Adult
10.Association between nuclear factor kappa-light-chain-enhancer of activated B cells genetic polymorphisms and HCV susceptibility among the Chinese population under high-risk.
Y Y FAN ; J G SHAO ; P HUANG ; T TIAN ; J LI ; Y P HAN ; M YUE ; L L ZHANG
Chinese Journal of Epidemiology 2018;39(9):1261-1264
Objective: To explore the association between nuclear factor kappa-light-chain-enhancer of activated genetic polymorphisms in B cells (NF-κB) and the HCV susceptibility, among the Chinese population. Methods: A total of 1 679 participants were enrolled; including 503 drug users and 1 176 other participants at risk under the exposure for blood. By using the logistic regression analysis, related risk factors for HCV infection among subjects were analyzed. Two NF-κB pathway variants, NF-κB1 rs72696119 and REL rs13031237 were then genotyped by TaqMan assay method. Logistic regression analysis was performed to analyze the association between gene polymorphisms and the susceptibility on HCV. Results: Among the drug users, women (OR=0.408, 95%CI: 0.308-0.767) appeared to be associated with the decreased risk for HCV infection, while factors as drug injection (OR=8.817, 95%CI: 5.577-13.937) and the duration of drug-intake >5.5 years (OR=2.891, 95%CI: 1.824-4.583) were associated with the increased risk for HCV infection. Among the participants who had been exposed to blood, women (OR=3.431, 95%CI: 2.360-4.988) were associated with the increased risk for HCV infection, while the levels of education beyond elementary school (OR=0.613, 95%CI: 0.429-0.876) were associated with the decreased risk for HCV infection. Compared to the reference NF-κB1 rs72696119 CC genotype, the carriage of GG genotype was associated with an increased risk of susceptibility on HCV (OR=1.412, 95%CI: 1.035-1.927) among the total study population. Results from the interaction analysis showed that there was no interactive effects appeared between rs72696119 and route of infection, or between rs72696119 and gender among the total population under study (all P>0.05). Conclusion: NF-κB1 polymorphism rs72696119 and related factors seemed associated with the susceptibility to HCV infection among high-risk Chinese populations.
Asian People/genetics*
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B-Lymphocytes
;
Case-Control Studies
;
China/epidemiology*
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Female
;
Genetic Predisposition to Disease
;
Hepatitis C/genetics*
;
Humans
;
Male
;
Middle Aged
;
NF-kappa B/genetics*
;
Polymorphism, Single Nucleotide

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