Prevalence Of Hyperhomocysteinemia Research Articles

Is There a Connection between Hyperhomocysteinemia and the Cardiometabolic Syndrome?

This study investigates the distribution of hyperhomocysteinemia and cardiovascular metabolic syndrome (SM) among participants, shedding light on their prevalence and co-occurrence within the study cohort. Through an analysis of demographic characteristics and health parameters, including age, gender, and body mass index (BMI), alongside nutritional data, correlations between these factors and health risks are explored. Results reveal a notable prevalence of hyperhomocysteinemia, with 45.3% of participants exhibiting this condition. Furthermore, 31.4% of the cohort does not present hyperhomocysteinemia or SM, while 23.3% shows SM without hyperhomocysteinemia. The study underscores gender-specific dietary recommendations due to significant variations in nutrient intake patterns. Additionally, inverse correlations between health risks like obesity, hypertension, and hypercholesterolemia and nutrient requirements highlight the need for tailored dietary interventions. Age-related changes in nutrient needs and the positive correlation between physical activity levels and certain nutrient demands further emphasize the importance of personalized dietary strategies. Variations in nutrient intake by gender, inverse correlations with health risks, and age-related changes underscore the need for tailored dietary strategies. These findings provide valuable insights for healthcare professionals in developing targeted nutritional interventions to mitigate disease risk and promote overall health and well-being.

Health Patterns across Adulthood: An Age-Based Investigation of the Nutritional Status, Homocysteine, and CoQ10 of Bank Staff.

This study aimed to evaluate age-specific variations in the blood levels of micronutrients, homocysteine, and CoQ10, along with physical activity (PA) patterns, among 123 Austrian adult bankers in operational and frontline roles (mean age: 43 years; 50% female). Blood analysis was conducted to assess micronutrients and the serum concentrations of homocysteine and CoQ10. The micronutrient values in whole blood were compared to sex-specific reference ranges and categorized as below, within, or above them. The Global Physical Activity Questionnaire was utilized to assess PA patterns. Participants were classified as young adults (18-34 years), middle-aged adults (35-49 years), and older adults (50-64 years). Significant age-based differences were found in participants' mean homocysteine levels (p = 0.039) and homocysteine categories (p = 0.034), indicating an increasing prevalence of hyperhomocysteinemia with age. No significant difference between age categories was observed for sex, BMI, diet types, PA levels, sedentary behavior, and CoQ10 (p > 0.05). There was no significant age-based difference in the blood concentrations of most minerals and vitamins (p > 0.05), except for magnesium among females (p = 0.008) and copper among males (p = 0.042). The findings offer initial evidence of the age-related differences in the health status of adult bankers, providing insights for customized approaches to occupational health that support the importance of metabolic health and overall well-being across adulthood.

Гомоцистеїн як біомаркер судинної патології

The purpose of the study was to analyze professional literature sources devoted to the influence of homocysteine on the development of vascular disorders. The role of homocysteine as a biomarker of vascular pathology is considered. Materials and methods. Bibliosemantic and analytical methods were used in the study. The analysis of the specialized literature (47 sources) was carried out using information in the scientific-metric databases MEDLINE/PubMed, Scopus and Google Scholar. Results and discussion. Homocysteinemia is a pathological condition associated with quite serious consequences for the body; the endothelium of vessels suffers mostly: systemic endothelial dysfunction develops (including disruption of the synthesis and exchange of the endothelium-relaxing factor – nitric oxide), oxidative stress, activation of platelet aggregation, hypercoagulation occurs (due to a decrease in the activity of heparin, thrombomodulin and an increase in the activity of thromboxane A2). The prevalence of hyperhomocysteinemia in Ukraine is quite high and reaches 10% among healthy adults, 2% among young people and adolescents, from 13% to 43% in patients with cardiovascular pathology. The C677T polymorphism of the methylenetetrahydrofolate reductase gene is widespread among the population of Ukraine (40.7%). Researchers believe that hyperhomocysteinemia is an independent and modifiable risk factor for vascular pathology. Conclusion. Homocysteine is recognized as one of the markers of vascular pathology. Scientists consider the activation of oxidative stress, damage to the endothelium, stimulation of the proliferation of smooth muscle cells, and pro-inflammatory effects to be the main mechanisms of vascular damage in hyperhomocysteinemia. The described pathological changes are accompanied by a violation of the regulation of vascular tone, mostly due to a decrease in the synthesis of nitric oxide. Unbalanced synthesis of nitric oxide causes and potentiates oxidative stress, the processes of atherothrombogenesis. The professional literature presents enough scientific data that convincingly prove the role of homocysteine in the development of cardiovascular and neurological pathology. However, there is a small number of studies devoted to the relationship between hyperhomocysteinemia and periodontal diseases, and the pathogenetic mechanisms of the influence of hyperhomocysteinemia on the development of vascular disorders in coronavirus disease are not fully disclosed

Hyperhomocysteinemia in Patients with Newly Diagnosed Primary Hypertension in Can Tho City, Vietnam.

Elevated levels of blood total homocysteine is one of the cardiovascular risk factors in hypertensive patients. Determine the prevalence of hyperhomocysteinemia and its associated factors in newly diagnosed primary hypertension patients. A cross-sectional descriptive study on 105 patients with newly diagnosed primary hypertension at Can Tho University of Medicine and Pharmacy Hospital from May 2017 to May 2018. Total homocysteine levels and related factors were collected at the study time. The mean plasma total homocysteine level was 16.24 ± 4.49 µmol/L. There were 78 patients with elevated plasma total homocysteine levels ≥15 µmol/L, accounting for 74.3% of all patients. Being elderly, gender, hypertension stage, and diabetes were factors associated with hyperhomocysteinemia (p < 0.05). Total homocysteine levels were positively correlated with SBP, DBP, and age with r(SBP) = 0.696, r(DBP) = 0.585, and r(age) = 0.286. Research on the subpopulation of Vietnamese people shows that hyperhomocysteinemia is common in patients with newly diagnosed primary hypertension, and high blood total homocysteine levels are often related to age, sex, hypertension stage, and diabetes.

Značaj prevencije hiperhomocisteinemije kao faktora rizika za kardiovaskularne bolesti

Introduction. Homocysteine is an amino acid that is formed in the metabolism of methionine as the quantitatively most important metabolite. Its chemical structure has been known for 90 years and its biological roles are still being investigated. Under normal conditions, homocysteine is present in plasma at the concentration of 5 - 9 mmol/l. When the cell capacity for homocysteine is reached, it is transported to the extracellular space, until the intracellular level is normalized. If the cell is unable to reach the required levels of homocysteine, it accumulates in the blood and hyperhomocysteinemia occurs. Discussion. It has been determined that many factors, such as congenital enzyme deficiency, age, sex, inadequate diet (vitamin B complex deficiency) increase the level of homocysteine in the blood. Impaired kidney function, diabetes, hyperthyroidism, as well as many medications, can have an effect on homecysteinemia. Increased concentration of homocysteine in the blood accelerates the process of atherosclerosis by several different mechanisms and represents an independent risk factor for the occurrence of cardiovascular diseases and adverse cerebral events. The prevalence of hyperhomocysteinemia is estimated at 5% in the general population and 13 - 47% among patients with symptomatic atherosclerotic vascular disease. Conclusion. For these reasons, the level of homocysteine in the blood should be monitored and corrective measures should be implemented, which include sufficient intake of folic acid, vitamins B12 and B6, in doses that depend on fasting homocysteine levels and after the methionine load test.

Proton pump inhibitor use and its effect on vitamin B12 and homocysteine levels among men and women: A large cross-sectional study.

Previous studies have demonstrated an association between proton pump inhibitors (PPI) use and vitamin B12 deficiency. However, data regarding PPI use and elevated serum homocysteine level, an important marker of vitamin B12 deficiency, are scant. Data were collected from medical records of subjects examined at a screening center in Israel. Cross sectional analysis was conducted on 25,953 subjects. Levels of vitamin B12 and homocysteine were compared between subjects who consumed PPI medications and those who did not. The mean age of the study population was 45 years and 33% were females. Subjects who received PPI medications had a minor higher vitamin B12 levels (320 pmol/L vs 300 pmol/L, p=0.024). Levels of vitamin B12 remained higher in females receiving PPI medications after performing a stratified analysis according to subjects' gender. Homocysteine levels were higher in subjects receiving PPI medications as compared to those who did not (12.0 μmol/L vs 11.6 0 μmol/L, p<0.001). Levels remained higher in female subjects after performing a stratified analysis according to subjects' sex. There was no statistically significant difference in the prevalence of vitamin B12 deficiency (according to two cutoffs: vitamin B12≤200 or ≤140 pmol/L) as well as the prevalence of hyperhomocysteinemia (defined as homocysteine >15.0 μmol/L) between the two groups. According to our study, no association was found between PPI medication use and vitamin B12 deficiency or hyperhomocysteinemia. Patients receiving PPI medications had slightly higher levels of vitamin B12 and homocysteine, however these differences were too small to have any clinical relevance.

Homocysteine, Vitamins B6, B12, and Folate and the Risk of Ischemic and Hemorrhagic Stroke: A Case-control Study from Northeast India.

Stroke is a major leading global health complication. Identification and management of risk factors associated with stroke can help in prior detection, prevention, and improvement in patient care. To investigate the prevalence of hyperhomocysteinemia (HHcy) and Vitamins B6, B12, and folate deficiency in stroke patients and also to assess other risk factors associated with ischemic and hemorrhagic stroke. Detail history of all the subjects in the study including history of hypertension, anemia, fasting glucose, carotid artery thickness, smoking, alcohol, and dietary intake was recorded. Standard assays for homocysteine (Hcy), Vitamins B6, B12, and folate estimation were done. Lipid and renal profile tests were also performed. The prevalence and odds of having HHcy, Vitamins B6, B12, and folate deficiency, and other risk factors in ischemic and hemorrhagic stroke patients were evaluated. Student's t-tests and chi-square tests were done for statistical validation of the data. Prevalence of HHcy and Vitamins B6, B12, and folate deficiency was not observed in ischemic cases. HHcy and folate deficiency was found to be prevalent in hemorrhagic stroke patients. The odds that a person with HHcy and folate deficiency has hemorrhagic stroke was found to be significantly high. In our study, high Hcy and low folate levels emerged as risk factors for hemorrhagic stroke.

Evaluation of serum folate, vitamin B12 and homocysteine among blood donors in Lagos State University teaching hospital, Lagos, Nigeria

&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Folate, vitamin B12 deficiency and hyperhomocysteinaemia have been reported as important risk factors for the development of cardiovascular events and ischaemic stroke. These vitamin deficiencies are also implicated in the pathogenesis of several diseases like anaemia, dementia, Alzheimer’s disease and cancers. This study determined the serum levels of vitamins B12, folate, and homocysteine among blood donors in the Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria.&lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This was a descriptive, cross-sectional study done among blood donors at the donor clinic of LASUTH Ikeja, Lagos, Nigeria. One hundred blood donors who met the donor inclusion criteria of LASUTH were recruited consecutively into the study.&lt;strong&gt; &lt;/strong&gt;Five ml of venous blood was collected from each consenting participant into ethylene Diamine Tetra-acetic Acid (EDTA) and plain bottles for the determination of full blood count and folate, vitamin B12/homocysteine respectively. Data were analyzed with statistical package for social science version 23.0, the p value was set at ≤0.05.&lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The mean age of the study participants was 33.36±8.31 years. The mean serum homocysteine, folate and VitB12 levels among the study participants were 5.59±9.14 nmol/l, 21.57±4.15ng/ml and 1694.38±592.83 pg/ml respectively. About 8% of the study participants had serum homocysteine levels more than 15nmol/L, 4% had vitamin B12 levels less than 203pg/ml while all 100 participants had normal folate levels of 4ng/ml and above.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; The prevalence of hyperhomocysteinemia, vitaminB12 and folate deficiencies among blood donors in LASUTH is low.&lt;/p&gt;

Tolcapone improves outcomes in patients with Parkinson disease treated by levodopa/carbidopa intestinal gel: A pilot study.

Background:Patients with Parkinson disease (PD) treated with levodopa/carbidopa intestinal gel (LCIG) have higher prevalence of hyperhomocysteinemia and peripheral nerves damage.Objective:The aim of our study was to test the effect of catechol-O-methyl transferase inhibitor tolcapone—as an add-on therapy to LCIG in patients with PD—on homocysteine (HCY) metabolism and nerve conduction study (NCS) parameters.Methods:We evaluated NCS and serum B12, folic acid, and homocysteine in 16 patients with advanced PD on LCIG. Quality of life (QoL) was also assessed. Six subjects were treated with tolcapone add-on therapy (and LCIG dose reduction), 5 with B vitamin supplementation, and 5 without additional treatment.Results:The level of HCY increased among patients without treatment (4.95 ± 12.54), and decreased in the vitamin (–17.73 ± 11.82) and tolcapone groups (–8.81 ± 8.36). Patients with tolcapone demonstrated improvement in polyneuropathic symptoms and signs compared with patients treated with vitamins or those without additional treatment (–0.83, d = 0.961). Although the most robust improvement in NCS parameters were observed with tolcapone, the findings were inconsistent to prove the effect of any intervention. Only tolcapone treatment was associated with improvement in QoL (d = 1.089).Conclusion:Our study indicates potential of tolcapone add-on therapy in LCIG treated patients in control of homocysteine levels, and improvement of polyneuropathic symptoms, as well as QoL.

Adolescent Afghan Refugees Display a High Prevalence of Hyperhomocysteinemia and Associated Micronutrients Deficiencies Indicating an Enhanced Risk of Cardiovascular Disease in Later Life.

A growing body of research evidence suggests that elevated homocysteine level (hyperhomocysteinemia) is an independent risk factor for cardiovascular diseases. The current study aimed to investigate the prevalence and associated risk factors for hyperhomocysteinemia among adolescent Afghan refugees aged 10–19 years. In total, 206 healthy adolescent boys and girls were randomly recruited from a refugee village in Peshawar, Pakistan, in 2020. Socio-demographic data, anthropometric assessment, and blood sample collection were performed following standard methods. Serum homocysteine was assessed using a chemiluminescent microparticle immunoassay, with hyperhomocysteinemia defined as levels ≥ 15 µmol/L. The overall prevalence of hyperhomocysteinemia was 25%, with mean homocysteine levels significantly (p = 0.004) higher among boys (14.1 µmol/L) than girls (11.8 µmol/L). Multivariate logistic regression analysis revealed a significant association between hyperhomocysteineimia and serum levels of vitamin B12 (OR 0.29; 95% CI of 0.14 to 0.62; p < 0.01) and folate (OR 0.1; 95% CI of 0.03 to 0.27; p < 0.001). Overall, our study findings indicate high prevalence of hyperhomocysteinemia among adolescent Afghan refugees who are potentially at high risk of developing cardiovascular diseases in future. There is a dire need to develop and implement nutritional and public health strategies to control hyperhomocysteinemia, protect against related diseases and complications in future, and ensure healthy lives and well-being among these vulnerable populations.

Association between Elevated Plasma Homocysteine and Low Skeletal Muscle Mass in Asymptomatic Adults.

BackgroundHomocysteine has been drawing attention with a closed linkage with skeletal muscle. However, the association of hyperhomocysteinemia with decreased skeletal muscle mass remains unclear. We aimed to investigate the association of hyperhomocysteinemia with low skeletal muscle mass (LMM) in asymptomatic adults.MethodsThis was a cross-sectional study of 114,583 community-dwelling adults without cancer, stroke, or cardiovascular diseases who underwent measurements of plasma homocysteine and body composition analysis from 2012 to 2018. Hyperhomocysteinemia was defined as >15 μmol/L. Skeletal muscle mass index (SMI) was calculated based on appendicular muscle mass (kg)/height (m)2. Participants were classified into three groups based on SMI: “normal,” “mildly low,” and “severely low.”ResultsThe prevalence of hyperhomocysteinemia was the highest in subjects with severely LMM (12.9%), followed by those with mildly LMM (9.8%), and those with normal muscle mass (8.5%) (P for trend <0.001). In a multivariable logistic regression model, hyperhomocysteinemia was significantly associated with having a mildly LMM (odds ratio [OR], 1.305; 95% confidence interval [CI], 1.224 to 1.392) and severely LMM (OR, 1.958; 95% CI, 1.667 to 2.286), respectively. One unit increment of log-transformed homocysteine was associated with 1.360 and 2.169 times higher risk of having mildly LMM and severely LMM, respectively.ConclusionWe demonstrated that elevated homocysteine has an independent association with LMM in asymptomatic adults, supporting that hyperhomocysteinemia itself can be a risk for decline in skeletal musculature.

Serum uric acid concentration is associated with hyperhomocysteinemia in hypertensive Chinese adults.

This study is to investigate the correlation between serum uric acid levels and hyperhomocysteinemia Chinese adult patients with hypertension. We enrolled 981 hypertensive patients, including unmedicated hypertensives, in our study. There were 453 patients with hyperhomocysteinemia (hyperhomocysteinemia hypertension group) and 528 without it (ordinary hypertension group). We collected histories of coronary heart disease, diabetes, and smoking and tested patients' BMI, blood pressure, fasting serum uric acid, serum total cholesterol, triglycerides, low-density lipoprotein cholesterol, serum creatinine, and homocysteine. Subjects were stratified into four groups according to their serum uric acid quartiles: Q1 group, 249 cases (≤268 μmol/L); Q2 group, 245 cases (269-322 μmol/L); Q3 group, 244 cases (323-378 μmol/L); and Q4 group, 243 cases (≥379 μmol/L). We employ logistic regression analysis to investigate the relationship between serum uric acid levels and the risk of hyperhomocysteinemia in patients with hypertension. We find that there were significant differences in gender distribution, serum uric acid, BMI, serum creatinine, total cholesterol, and diastolic blood pressure between the two groups (P < 0.05). The prevalence of hyperhomocysteinemia in groups Q1 through Q4 was 26.91% (67/249), 45.31% (111/245), 47.01% (117/244), and 65.02% (158/243), respectively, after adjusting for relevant factors, we find that the risk of hyperhomocysteinemia in the Q4 group was significantly higher than that in the Q1 group (odds ratio = 3.00, 95% confidence interval: 1.83-4.93). We find evidence that an elevated serum uric acid level is an independent indicator for hyperhomocysteinemia in patients with hypertension.

Role of hyperhomocysteinemia and Vitamin B12 deficiency in central and hemi-central retinal vein occlusion: A case-control study.

BACKGROUND:Retinal venous occlusive diseases have been recognized as a major cause of ocular morbidity. Hyperhomocysteinemia could be a potentially modifiable risk factor.OBJECTIVE:To determine the association of hyperhomocysteinemia with central and hemi-central retinal vein occlusion (CRVO and HCRVO), the correlation of serum levels of homocysteine with Vitamin B12 and folate levels and the association of Vitamin B12 deficiency with hyperhomocysteinemia.METHODS:In this case–control study, patients with CRVO and HCRVO, and age- and gender-matched controls without CRVO and HCRVO, who met the eligibility criteria, were enrolled after obtaining informed consent. Data obtained from participants using a questionnaire, complete ophthalmological examination and relevant investigations, including estimation of serum homocysteine, Vitamin B12 and folate levels, were collated and analyzed.RESULTS:Thirty-nine cases with CRVO and HCRVO and 39 age- and gender-matched controls were studied. We found a significant association of hypertension (P < 0.01), hyperlipidemia (P = 0.01), and abnormal blood profile (P < 0.01) with retinal vein occlusion. There was no statistically significant association of hyperhomocysteinemia with CRVO and HCRVO (P = 0.81). However, we found a high prevalence of both hyperhomocysteinemia (43.58% of cases and 53.84% of controls; P = 0.81) and Vitamin B12 deficiency (23.08% of cases and 38.46% of controls; P = 0.14) in cases and controls, without a statistically significant difference between the two groups with respect to both parameters. Our study also found a negative correlation of serum levels of homocysteine with Vitamin B12 (Pearson correlation co-efficient − 0.3874, P = 0.0005), and folate (Pearson correlation coefficient − 0.3886, P = 0.0004) of the study participants. Among the study participants (n = 78), the odds of patients with Vitamin B12 deficiency having hyperhomocysteinemia were 7.0 (2.26–21.72) times those of patients without Vitamin B12 deficiency (P = 0.001). Similarly, among the cases (CRVO, n = 39), the odds of patients with Vitamin B12 deficiency having hyperhomocysteinemia were 7.0 (1.22–40.09) times those of patients without Vitamin B12 deficiency (P = 0.029). In the control group also (non-CRVO, n = 39), the odds of patients with Vitamin B12 deficiency having hyperhomocysteinemia were 6.67 (1.47–30.21) times those of patients without Vitamin B12 deficiency (P = 0.014).CONCLUSION:Hyperhomocysteinemia was not found to be an independent risk factor for retinal vein occlusion in our study. However, we found a high prevalence of hyperhomocysteinemia and Vitamin B12 deficiency in both cases and controls, without a statistically significant difference between the two groups with respect to both parameters. We also found a negative correlation of serum homocysteine levels with Vitamin B12 and folate levels. The odds of patients with Vitamin B12 deficiency having hyperhomocysteinemia were seven times those of patients without Vitamin B12 deficiency. Hypertension, hyperlipidemia, and abnormal blood profile had a significant association with CRVO and HCRVO. Many of the systemic risk factors for retinal vein occlusions are found to be associated with elevation of serum homocysteine levels, which may be part of a final common pathway in bringing about a state of accelerated atherosclerosis, leading to CRVO or HCRVO. Therefore, lowering serum levels of homocysteine by Vitamin B12 and folate supplementation could have a role in the prevention of these diseases.

Anthropometric, biochemical, and haematological indicators associated with hyperhomocysteinemia and their relation to global DNA methylation in a young adult population

ABSTRACT Increased homocysteine (Hcy) levels have been associated with a higher risk of cardiovascular and neurodegenerative diseases. Passive DNA demethylation has been suggested as one of the mechanisms implicated in the development of these conditions, and most studies have investigated this relationship in older adult populations. Therefore, this study aimed to evaluate the relationship between corporal composition and biochemical and haematological indicators with plasma homocysteine levels and genome-wide methylation (Alu, LINE-1, and SAT2) in a population of healthy young adults (median age, 18 years). We showed that the prevalence of hyperhomocysteinemia was significantly higher in men (18.5%) than in women (6.6%) (P = 0.034). Increased Hcy level was substantially associated with higher levels of body mass index and visceral fat in females, whereas in males, it was significantly associated with reduced red cell distribution width and high-density lipoprotein (HDL) cholesterol (HDL-C) levels and increased low-density lipoprotein/HDL ratio. Hypomethylation of Alu was significantly associated with reduced levels of HDL-C (<40.0 mg dL–1), whereas hypomethylation of LINE-1 and SAT2 was significantly associated with higher levels of skeletal muscle (<39.3%) in males. These results highlight the participation of hormonal factors in regulating Hcy metabolism, primarily in the female population, whereas changes in DNA methylation observed in males might be associated with the consumption of a protein diet with high levels of methionine, independent of increased Hcy levels.

Prevalence and risk factors for hyperhomocysteinemia: a population-based cross-sectional study from Hunan, China

ObjectivesHyperhomocysteinemia is an independent risk factor for cardiovascular diseases. We aimed to investigate the prevalence and risk factors for hyperhomocysteinemia, especially modifiable lifestyle factors, such as smoking behaviour and dietary...

Status of hyperhomocysteinemia in China: results from the China Stroke High-risk Population Screening Program, 2018.

A nationwide survey was conducted from October 2018 to September 2019 to assess the prevalence of hyperhomocysteinemia (Hhcy) and its influencing factors in China. A standardized questionnaire was used to collect information. Hhcy was defined as the level of serum homocysteine (HCY) ⩾ 15.0µmol/L. The H-type hypertension (HHYP) was defined as hypertension with an elevated serum HCY 15.0µmol/L). Finally, 110 551 residents ⩾ 40 years of age from 31 provinces in the mainland of China were included. Overall, the median serum HCY level was 10.9µmol/L (interquartile range 7.9-15.1). A total of 28 633 participants (25.9%) were defined as Hhcy. The Hhcy prevalence ranged from 7.9% in Shanghai to 56.8% in Tianjin. The data showed that serum HCY levels were associated with age, male gender, cigarette smoking, hypertension, diabetes, ethnicity, endurance in exercise (inverse), and fruit and vegetable intake (inverse). In addition, 15 486 participants were defined as HHYP, and the rate was 14.0%. HHYP was an independent predictor of stroke with an adjusted odds ratio of 1.752 (95% CI 1.338-2.105). The geographical distribution pattern of the Hhcy epidemic reflects dynamic differences, and national strategies should be carried out to further improve the care of patients with Hhcy across China.

The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants.

Previous studies have demonstrated a high prevalence of biochemical vitamin B12 deficiency in infants in Norway. Increased total homocysteine (tHcy) is the most important marker of B12 deficiency in infants. There is a need to evaluate its clinical relevance. To investigate the prevalence of hyperhomocysteinemia (S-tHcy > 8μmol/L) suggestive of suboptimal B12 status and the prevalence of clinically relevant hyperhomocysteinemia in presumed healthy infants in Norway. Further, to evaluate risk factors, presence of symptoms and psychomotor development in these children. In a prospective study we clinically examined 252 infants aged 3-7 months using standardized neurological and psychomotor tests prior to analyzing biochemical B12 deficiency markers in 250 infants. Twenty-five of 250 (10%) infants had hyperhomocysteinemia combined with clinically relevant symptoms suggestive of B12 deficiency. Hyperhomocysteinemia was associated with tremor, excessive sleep, and sub-normal scores in the fine motor section of the Ages and Stages Questionnaire. One-hundred and fourteen of 250 (46%) infants had hyperhomocysteinemia. Multiple regression analysis showed months of infant formula use as the strongest negative predictor for hyperhomocysteinemia. We have demonstrated associations between symptoms suggestive of infant B12 deficiency and increased levels of tHcy in presumed healthy infants The combination of hyperhomocysteinemia and associated relevant symptoms suggestive of B12 deficiency was a common finding, albeit most infants with hyperhomocysteinemia did not show symptoms.

Exome-Wide Association Study Identifies East Asian-Specific Missense Variant MTHFR C136T Influencing Homocysteine Levels in Chinese Populations RH: ExWAS of tHCY in a Chinese Population.

Plasma total homocysteine (tHCY) is a known risk factor of a wide range of complex diseases. No genome scans for tHCY have been conducted in East Asian populations. Here, we conducted an exome-wide association study (ExWAS) for tHCY in 5,175 individuals of Chinese Han origin, followed by a replication study in 668 Chinese individuals. The ExWAS identified two loci, 1p36.22 (lead single-nucleotide polymorphism (SNP) rs1801133, MTHFR C677T) and 16q24.3 (rs1126464, DPEP1), showing exome-wide significant association with tHCY (p < 5E−7); and both loci have been previously associated with tHCY in non-East Asian populations. Both SNPs were replicated in the replication study (p < 0.05). Conditioning on the genotype of C677T and rs1126464, we identified a novel East Asian-specific missense variant rs138189536 (C136T) of MTHFR (p = 6.53E−10), which was also significant in the replication study (p = 9.8E−3). The C136T and C677T variants affect tHCY in a compound heterozygote manner, where compound heterozygote and homozygote genotype carriers had on average 43.4% increased tHCY than had other genotypes. The frequency of the homozygote C677T genotype showed an inverse-U-shaped geospatial pattern globally with a pronounced frequency in northern China, which coincided with the high prevalence of hyperhomocysteinemia (HHCY) in northern China. A logistic regression model of HHCY status considering sex, age, and the genotypes of the three identified variants reached an area under the receiver operating characteristic curve (AUC) value of 0.74 in an independent validation cohort. These genetic observations provide new insights into the presence of multiple causal mutations at the MTHFR locus, highlight the role of genetics in HHCY epidemiology among different populations, and provide candidate loci for future functional studies.

Prevalence of Hyperhomocysteinemia in China: An Updated Meta-Analysis.

Simple SummaryHyperhomocysteinemia has been defined as an elevated serum concentration of homocysteine exceeding 15 μmol/L and has been proven to play an important role in the pathogenesis of cerebrovascular disease. The prevalence of hyperhomocysteinemia in China has been outlined in a previous meta-analysis. Considering the key role of homocysteine in the process of vascular injury, more studies have been conducted to prevent hyperhomocysteinemia by nutritional supplements such as folic acid or other treatments. Additionally, studies have shown that the prevalence of hyperhomocysteinemia increases over time; therefore, it was necessary to provide an update from the previous meta-analysis on homocysteine status in China. This was needed to understand the prevalence, the trend in changes over time, and its determinants. The results highlight that the prevalence of hyperhomocysteinemia is increasing in China, especially among the elderly, men, and residents in the north, inland areas, and rural areas of China.We conducted a meta-analysis to systematically assess the prevalence of hyperhomocysteinemia (HHcy) in China, its change over time, and its determinants. Literature searches were conducted using English databases (PubMed, Embase, and Web of Science) and Chinese databases (CNKI, CBM, VIP, and Wanfang). The time ranges were from Jan 2014 to Mar 2021 in China. We adopted the random effects model to estimate the pooled positive rates of HHcy and corresponding 95% confidence intervals (95% CI). To find the sources of heterogeneity, we performed subgroup analysis and meta-regression. A total of 29 related articles were identified involving 338,660 participants with 128,147 HHcy cases. The estimated prevalence of HHcy in China was 37.2% (95% CI: 32.6–41.8%, I2 = 99.8%, p for heterogeneity < 0.001). The trend of HHcy prevalence was gradually upward over time, with increases during 2015–2016 (comparison to 2013–2014, p < 0.001), but steady between 2015–2016 and 2017–2018. Subgroup analysis showed that the prevalence was higher in the elderly over 55 years old, males, and residents in the north, inland, and rural China (for each comparison, p < 0.001). Meta-regression analysis revealed that age and area of study contributed to 42.3% of the heterogeneity between studies. The current meta-analysis provides strong evidence that the prevalence of HHcy is increasing in China, and varies substantially across different ages, genders, and geographic distribution. Accordingly, high-risk population groups should be focused on, and public health policies and strategies should be carried out to prevent and control HHcy in China.

Prevalence of hyperhomocysteinemia (HHcy) and its major determinants among hypertensive patients over 35 years of age.

Hyperhomocysteinemia (HHcy) and hypertension are associated with cardiovascular events. However, effects of Hcy-lowing interventions on cardiovascular outcome were conflicting. Serum folate level was proposed to be a possible determinant of efficacy of extra folate supplementation on cardiovascular outcome. The aims of the present study were to describe representative information on the levels of serum homocysteine and folate in hypertensive patients, and to explore the major determinants of HHcy. 11,007 participants with hypertension were analyzed in this cross-sectional study. Blood pressure and serum levels of biochemical indicators were measured. Multivariate logistic regression model was used to assess the associated factors of HHcy. Geometric mean of serum total homocysteine was 14.1 (95% CI: 13.9, 14.4) μmol/L and prevalence of HHcy was 36.1 (95% CI: 34.0, 38.1) % in hypertensive patients. HHcy was strongly associated with factors including male sex, older age, elevated serum creatinine (SCr), lower serum folate and vitamin B12, and uncontrolled blood pressure in hypertensive patients. Elevated SCr attributed to HHcy with the etiologic fraction of 0.29. The change of the odds ratio of HHcy associated with folate was significantly higher in patients with elevated SCr compared with that of patients with normal SCr. The results suggested the protection of female sex and higher levels of folate and vitamin B12 from HHcy and attribution of older age and elevated SCr to HHcy. Restoring renal function deserved attention for hypertensive patients to benefit from Hcy-lowing measures.