1.The C677 Mutation in Methylene Tetrahydrofolate Reductase Gene: Correlation with Uric Acid and Cardiovascular Risk Factors in Elderly Korean men.
Young Seoub HONG ; Myeong Jin LEE ; Kyeong Hee KIM ; Sang Hwa LEE ; Yong Hwan LEE ; Byoung Gwon KIM ; Baekgeun JEONG ; Hyeong Ryeol YOON ; Hisahide NISHIO ; Joon Youn KIM
Journal of Korean Medical Science 2004;19(2):209-213
The C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene results in elevated homocysteine levels and, presumably, in increased cardiovascular risk. Moreover, elevated homocysteine levels are reportedly associated with high serum uric acid levels. We evaluated the MTHFR genotype and a panel of biochemical, hematological variables, and lifestyle characteristics in 327 elderly Korean men (age range 40-81 yr; mean, 51.87). This study shows that mutation of the MTHFR gene may be a risk for hyperuricemia. The mean uric acid levels for the C/C, C/T and T/T genotypes were 5.54, 5.91 and 6.33 mg/dL, respectively (p=0.000). The T/T genotype was significantly more frequent in subjects with high uric acid levels (p=0.003). Thus, this mutation of the MTHFR gene is implied by the study results to be a risk factor of hyperuricemia in elderly Korean men. However, the relationship between the MTHFR mutation and uric acid metabolism remains unclear. Therefore, further studies are necessary to explain the associated between the MTHFR mutation and elevated uric acid levels, and to examine potential relationships between it and conventional cardiovascular risk factors.
Adult
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Aged
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Aged, 80 and over
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Cardiovascular Diseases/blood/*epidemiology/*genetics
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Genetic Predisposition to Disease/epidemiology
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Genotype
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Human
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Hyperuricemia/blood/*epidemiology/*genetics
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Korea
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Male
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Methylenetetrahydrofolate Reductase (NADPH2)/*genetics
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Middle Aged
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*Point Mutation
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Risk Factors
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Support, Non-U.S. Gov't
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Uric Acid/blood
2.The Association Between Apolipoprotein E Genotype and Lipid Profiles in Healthy Woman Workers.
Kieun MOON ; Sook Hee SUNG ; Youn Koun CHANG ; Il Keun PARK ; Yun Mi PAEK ; Soo Geun KIM ; Tae In CHOI ; Young Woo JIN
Journal of Preventive Medicine and Public Health 2010;43(3):213-221
OBJECTIVES: Plasma lipid profiles and Apolipoprotein E (ApoE) are established risk factors for cardiovascular disease (CVD). The knowledge of lipid profile may estimate the potential victims of cardiovascular disease before its initiation and progression and offers the opportunity for primary prevention. The most common ApoE polymorphism has been found to influence plasma lipid concentrations and its correlation with CVD has been extensively investigated in the last decade. METHODS: The ApoE polymorphism and its influence on plasma lipid were investigated in healthy woman workers. The information on confounding factors was obtained through a self-administered questionnaire and ApoE polymorphism was investigated using PCR. RESULTS: The relative frequencies of alleles E2, E3 and E4 for the study population (n=305) were 0.127, 0.750 and 0.121, respectively. ApoE polymorphism was associated with variations in plasma HDL-cholesterol lipid profile. In order to estimate the independent effects of alleles E2 and E4, as compared with E3, on lipid profile, multiple regression was performed after adjustment for confounding variables such as age, BMI, blood pressure, education status, insulin, fasting glucose, HOMA-IR, menopause. ApoE2 had a negative association with HDL cholesterol and ApoE4 had a positive association with LDL cholesterol. CONCLUSIONS: This study identified that the ApoE and CVD risk factors contribute to the lipid profiles, similar to other studies. The analysis including dietary intake and other gene in further studies may help to identify clear effects on lipid profiles as risk factor for CVD.
Adult
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Apolipoproteins E/blood/*genetics/metabolism
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Cardiovascular Diseases/epidemiology/prevention & control
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Cholesterol, HDL/genetics
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Female
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*Genotype
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Humans
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Lipid Metabolism/*genetics
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Polymerase Chain Reaction
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Primary Prevention
3.Genetic determination of fast plasma glucose concentration and correlation with anthropometric indices.
Wei-xia JIAN ; Qing SU ; Min LUO
Chinese Journal of Medical Genetics 2009;26(2):161-164
OBJECTIVETo study the genetic determination of fast plasma glucose (FPG) and correlation with its potential correlated traits, anthropometric measures and blood pressure.
METHODSTwo hundred and eighteen Type 2 diabetes mellitus (T2DM) pedigrees composed of 1383 Chinese Han individuals residing in the East and South-East China were analyzed. Univariate variance decomposition analyses were used to estimate the narrow-sense heritability (h(2)) of FPG, anthropometric indices and blood pressure, and bivariate quantitative genetic analyses were used to estimate the genetic and environmental correlations between FPG and anthropometric measures or blood pressure.
RESULTSWe found that FPG, blood pressure and all anthropometric indices except for waist to hip ratio were under significant genetic determination, and the h(2) was from 0.28 to 0.43. We did not find significant genetic and environmental correlation between FPG and anthropometric indices and blood pressure.
CONCLUSIONThe present study demonstrated that T2DM, obesity and hypertension were controlled by some genetic factors, and FPG shares little common genetic and environmental factors with obesity-related anthropometric indices and blood pressure in our Chinese sample population.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anthropometry ; Asian Continental Ancestry Group ; genetics ; Blood Glucose ; genetics ; Blood Pressure ; genetics ; Cardiovascular Diseases ; epidemiology ; genetics ; China ; ethnology ; Diabetes Mellitus, Type 2 ; genetics ; Fasting ; blood ; metabolism ; Female ; Genetic Predisposition to Disease ; Glucose ; genetics ; Humans ; Hypertension ; genetics ; Male ; Middle Aged ; Obesity ; genetics ; Risk Factors ; Waist-Hip Ratio ; Young Adult
4.Combined effects of both cardiovascular disease family history and smoking on the incidence of ischemic stroke.
Qin LU ; Jianhui ZHANG ; Yongyue LIU ; Hongmin LU ; Yunfan TIAN ; Batu BUREN ; Yipeng ZHOU ; Yonghong ZHANG
Chinese Journal of Epidemiology 2016;37(4):475-479
OBJECTIVETo investigate the cumulative effect regarding the family history of cardiovascular disease and smoking on ischemic stroke events in population with Mongolian ethnicity.
METHODSBased on data gathered from the baseline investigation, a 10-year prospective cohort follow-up project was conducted among 2 589 participants with Mongolian ethnicity. Ischemic stroke events were defined as the outcomes of the study. All the 2 589 participants were categorized into four subgroups: without family history of cardiovascular disease/nonsmokers, without family history of cardiovascular disease/smokers, with family history of cardiovascular disease/nonsmokers and with family history of cardiovascular disease/smokers, according to family history of cardiovascular disease and smoking status. Cumlative incidence rates of events among the four subgroups was described with Kaplan-Meier curves. Cox proportional hazards model was used to estimate the hazard ratios (HRs) and 95% confidence intervals (95%CI) of ischemic stroke events among the four subgroups.
RESULTSData from the Kaplan-Meier curves showed that the cumulative incidence rates of ischemic stroke were 1.17% (15/1 278), 3.83% (37/967), 5.70% (9/158) and 8.33% (15/180) for the groups of no family history of cardiovascular disease/nonsmokers, no family history of cardiovascular disease/smokers, with family history of cardiovascular disease/nonsmokers and with family history of cardiovascular disease/smokers, respectively. By cox proportional hazards model, after adjusting for age, male, drinking status, systolic and diastolic blood pressure, body mass index, fasting glucose, total cholesterol, triglycerides, LDL cholesterol factors, the HRs (95% CI) of ischemic stroke were 2.26 (1.19-4.28) and 2.45 (1.13-5.33) in the no family history of cardiovascular disease/smokers group, with family history of cardiovascular disease/smokers group when compared to the no family history of cardiovascular disease/nonsmokers group, respectively. The risk of ischemic stroke appeared the highest in the group with family history of cardiovascular disease/smokers (all P<0.05).
CONCLUSIONSmoking may increase the risk of ischemic stroke events among the population with family history of cardiovascular disease.
Alcohol Drinking ; Asian Continental Ancestry Group ; ethnology ; genetics ; Blood Glucose ; Blood Pressure ; Body Mass Index ; Cardiovascular Diseases ; ethnology ; genetics ; Cholesterol ; Cholesterol, LDL ; Genetic Predisposition to Disease ; Humans ; Incidence ; Male ; Mongolia ; epidemiology ; Population Surveillance ; Proportional Hazards Models ; Prospective Studies ; Risk Factors ; Smoking ; adverse effects ; epidemiology ; Stroke ; epidemiology ; genetics
5.Analysis of genetic and non-genetic factors that affect the QTc interval in a Mongolian population: the GENDISCAN study.
Sun Wha IM ; Mi Kyeong LEE ; Hee Jeong LEE ; Se Il OH ; Hyung Lae KIM ; Joohon SUNG ; Sung Il CHO ; Jeong Sun SEO ; Jong Il KIM
Experimental & Molecular Medicine 2009;41(11):841-848
The QTc interval is a complex quantitative trait and a strong prognostic indicator of cardiovascular mortality in general, healthy people. The aim of this study was to identify non-genetic factors and quantitative trait loci that govern the QTc interval in an isolated Mongolian population. We used multiple regression analysis to determine the relationship between the QTc interval and non-genetic factors including height, blood pressure, and the plasma lipid level. Whole genome linkage analyses were performed to reveal quantitative trait loci for the QTc interval with 349 microsatellite markers from 1,080 Mongolian subjects. Among many factors previously known for association with the QTc interval, age, sex, heart rate, QRS duration of electrocardiogram and systolic blood pressure were also found to have influence on the QTc interval. A genetic effect for the QTc interval was identified based on familial correlation with a heritability value of 0.31. In a whole genome linkage analysis, we identified the four potential linkage regions 7q31-34, 5q21, 4q28, and 2q36.
Adolescent
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Adult
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Age Factors
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Aged
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Aged, 80 and over
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Blood Pressure/genetics
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Body Height/genetics
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Cardiovascular Diseases/*genetics/mortality/pathology/*physiopathology
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Child
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Child, Preschool
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Chromosomes, Human/genetics
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*Electrocardiography
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Female
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*Genome-Wide Association Study
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Heart Rate/genetics
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Humans
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Male
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Microsatellite Repeats/*genetics
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Middle Aged
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Mongolia/epidemiology
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Quantitative Trait Loci/*genetics
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Sex Factors