Archives of Medical Science最新文献

{"title":"Causal associations of ambient particulate matter 10 and Alzheimer's disease: result from a two-sample multivariable Mendelian randomization study.","authors":"Zehan Huang, Guodong He, Shuo Sun, Yingqing Feng, Yuqing Huang","doi":"10.5114/aoms/185360","DOIUrl":"10.5114/aoms/185360","url":null,"abstract":"<p><strong>Introduction: </strong>Alzheimer's disease (AD) and ambient particulate matter 10 (PM10) have been associated in epidemiological studies. However, the relationship between PM10 and risk of AD has not been proven to be causal. Thus we used two-sample multivariable Mendelian randomization (MR) to examine this relationship.</p><p><strong>Material and methods: </strong>Genome-wide association studies (GWAS) for PM10 from UK Biobank, AD from EBI GWAS and IEU OpenGWAS were used for discovery and replication, respectively. Pooled meta-analysis of the inverse variance weighted (IVW) method was the main method. Sensitivity analyses included MR-Egger regression, weighted median, weighted mode and leave-one-out methods. The multivariable MR model adjusted for education. The MR estimates of causality association were expressed as odds ratios (OR) and corresponding 95% confidence intervals (CI).</p><p><strong>Results: </strong>There were in total 17 and 19 genetic variants associated with PM10 in the discovery and replication steps, respectively. In the univariate MR, pooled meta-analysis of genetically predicted PM10 was associated with a 99% increased risk of AD (95% CI: 1.25, 3.15, <i>p</i> = 0.004) per 1 standard deviation (SD) increment of PM10 by IVW, and in the multivariable MR with pooled meta-analysis, we found that each SD increase in PM10 was associated with a 127% increase in the risk of AD (95% CI: 1.33, 3.86, <i>p</i> = 0.002) after accounting for education levels.</p><p><strong>Conclusions: </strong>Increased PM10 levels were found to be significantly related to an increased risk of AD. This study provided evidence of genetic prediction of a causal relationship between PM10 and the risk of AD, suggesting that air pollution control may have significant implications for the prevention of AD.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"20 5","pages":"1604-1618"},"PeriodicalIF":3.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Income level is associated with differences in primary and secondary stroke prevention in China.","authors":"Huiming Ren, Junrong Ma, Xu Guo, Ruijie Zhang, Liyuan Pu, Tian Zhao, Fangfang Zeng, Chang Shu, Liyuan Han, Yunzhi Wang, Qiang Li, Xiaojie Wang","doi":"10.5114/aoms/178269","DOIUrl":"10.5114/aoms/178269","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to assess differences in the effects of income level on the primary and secondary prevention of stroke in the Chinese population.</p><p><strong>Material and methods: </strong>This was a population-based study using data from a China Kadoorie Biobank survey that began in 2004 in 10 geographical regions. Community residents (<i>n</i> = 512,715) aged 30-79 years were recruited. Stroke was determined by the self-reporting of a doctor's diagnosis, and participants with a high risk of stroke were identified using the model developed in the Prediction for ASCVD Risk in China study.</p><p><strong>Results: </strong>The final numbers of people included in this study were 8,884 with stroke and 218,972 with a high risk of stroke. The participants' income level was positively associated with high levels of physical activity and the consumption of a healthy diet, but negatively associated with the control of alcohol consumption (all <i>p</i> < 0.05). In addition, positive associations were observed between the control of smoking and the use of antiplatelet and antihypertensive medication for primary prevention (all <i>p</i> < 0.05), but there was a negative association with the control of blood pressure (<i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>Low-income individuals were less likely to control smoking and their diet and use preventive medications, while high-income individuals were less likely to control their alcohol consumption and blood pressure. Moreover, medication use was low for both primary and secondary prevention in high-income individuals.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"20 5","pages":"1472-1483"},"PeriodicalIF":3.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Different antinuclear antibody subgroups of anti-melanoma differentiation-associated gene 5-positive dermatomyositis showed variability in clinical presentation: a multicenter retrospective cohort study.","authors":"Gang Wang, Dong Yan, Leixi Xue, Chenghua Weng, Lei Zhang, Lingxiao Xu, Fenghong Yuan, Ju Li, Min Wu, Zhanyun Da, Hua Wei, Lei Zhou, Songlou Yin, Jian Wu, Yan Lu, Dinglei Su, Lin Liu, Longxin Ma, Xiaoyan Xu, Huijie Liu, Tianli Ren, Yinshan Zang, Zhichun Liu","doi":"10.5114/aoms/192272","DOIUrl":"10.5114/aoms/192272","url":null,"abstract":"<p><strong>Introduction: </strong>Antinuclear antibodies (ANA) are frequently positive in patients with anti-melanoma differentiation-associated gene 5-positive dermatomyositis (anti-MDA5+ DM). This study aimed to investigate the association between ANA and clinical characteristics as well as prognosis in a cohort of patients with anti-MDA5+ DM.</p><p><strong>Material and methods: </strong>We conducted a systematic retrospective study of medical records from a Nanjing Medical University cohort of patients with myositis-associated interstitial lung disease (ILD). Various parameters were compared and analyzed between the ANA-positive group and the ANA-negative group.</p><p><strong>Results: </strong>A total of 246 patients with anti-MDA5+ DM were enrolled in this study, with 28.5% males and 71.5% females. The median age was 53.0 years, the median disease duration was 2 months, and the median follow-up period was 12.0 months. The ANA positivity rate at baseline was 52.4% in anti-MDA5+ DM patients. The ANA-positive group showed significantly higher positivity rates of anti-Ro52 antibodies (72.9% vs. 54.7%, <i>p</i> = 0.003) and anti-aminoacyl-tRNA synthetase (anti-ARS) antibodies (9.3% vs. 2.6%, <i>p</i> = 0.033) compared to the ANA-negative group, but lower ALT levels: 39.0 (21.5, 79.3) vs. 51.3 (36.5, 95.8), <i>p</i> = 0.006. No significant differences were observed between the two groups in terms of overall survival, rapidly progressive interstitial lung disease (RPILD) incidence, age, disease duration, and clinical characteristics. In a subgroup analysis of the ANA-positive group, MDA5+++ patients had a higher incidence of RPILD compared to the MDA5+ group (<i>p</i> = 0.028). In the ANA-negative subgroup analysis, MDA5+++ patients had a higher mortality rate and worse prognosis compared to the MDA5+ group (<i>p</i> = 0.026). Multivariate Cox regression analysis showed that elevated lactate dehydrogenase (LDH) levels and the presence of rapidly progressive interstitial lung disease (RPILD) were associated with poor prognosis in ANA-negative anti-MDA5+ DM patients, with hazard ratios of 1.002 (95% CI: 1.001, 1.003, <i>p</i> = 0.020) and 13.694 (95% CI: 15.032, 37.267, <i>p</i> < 0.001), respectively.</p><p><strong>Conclusions: </strong>ANA is frequently found in patients with anti-MDA5+ DM. High titers of anti-MDA5 antibodies are associated with mortality and RPILD.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1345-1353"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the impact of a wheat flour and baker's yeast restricted diet vs. calorie restriction in non-alcoholic fatty liver disease patients.","authors":"Enver Ciftel, Aleksandra Klisic, Serpil Ciftel, Jelena Kotur Stevuljevic, Gokhan Tonkaz, Ramazan Dayanan, Arzu Bilen, Habib Bilen, Ilyas Capoglu, Filiz Mercantepe","doi":"10.5114/aoms/193393","DOIUrl":"10.5114/aoms/193393","url":null,"abstract":"<p><strong>Introduction: </strong>Non-alcoholic fatty liver disease (NAFLD) is a prevalent and nonalcoholic, progressive liver disorder associated with metabolic disturbance. This study aimed to compare the efficacy of a wheat flour or baker's yeast restricted diet with traditional calorie restriction in NAFLD patients.</p><p><strong>Material and methods: </strong>The analysed data were obtained from 243 individuals with NAFLD, who completed the study. Of these patients, 54 belonged to Group (1) (standard diet, SD), 104 belonged to Group (2) (wheat flour-free diet, WFFD), and 85 belonged to Group (3) (yeast-free diet, YFD). The intervention period lasted 6 months, during which participants' dietary compliance was closely monitored. Anthropometric measurements, liver function tests, and imaging studies were conducted at baseline, after 3 months, and at the endpoint.</p><p><strong>Results: </strong>At the end of the 6-month trial, both the WFFD and YFD groups exhibited a noteworthy reduction in body mass index (BMI) and triglyceride (TG) levels when compared to a standard diet that only involved calorie restriction. Furthermore, a notable reduction in the severity of liver steatosis was seen in these groups (<i>p</i> < 0.05). The SD group did not exhibit any significant changes in these metrics. The WFFD group experienced a notable reduction in Hepatic Steatosis Index (HSI)values (<i>p</i> < 0.05). Cluster analysis revealed that the obese group had higher HSI, weight, and BMI values throughout the study period, indicating a more advanced stage of NAFLD.</p><p><strong>Conclusions: </strong>This study highlights the significance of food constituents and dietary strategies in the treatment of NAFLD. It suggests that limiting the intake of wheat flour and baker's yeast specifically could have positive effects on liver well-being. Nevertheless, it is imperative to conduct comprehensive and enduring investigations that consider the genetic and metabolic variations among individuals. The results of this study provide evidence that customised dietary approaches designed to meet people's specific nutritional requirements could be crucial in the treatment of NAFLD.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"719-728"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The causal effects of placental weight on atherosclerotic cardiovascular disease: a Mendelian randomization and mediation analysis.","authors":"Dongyue Chen, Jiaxuan Sun, Shilin Fan, Chong Hou, Ke Yang, Min Peng, Songtao Shou, Quanyan Liu","doi":"10.5114/aoms/194244","DOIUrl":"10.5114/aoms/194244","url":null,"abstract":"<p><strong>Introduction: </strong>Previous studies have linked placental weight (PW) to cardiovascular diseases, but the causality and potential mediators underlying this relationship are still unknown.</p><p><strong>Material and methods: </strong>We conducted Mendelian randomization (MR) analysis via summary statistics from genome-wide association studies (GWAS), including PW adjusted for sex, 21 candidate mediators and atherosclerotic cardiovascular disease (ASCVD), which includes coronary heart disease (CHD) and ischemic stroke (IS). Two-step MR was employed to identify and assess the mediation and proportion of potential mediators in the association between PW and ASCVD. Additionally, we conducted a repeated analysis using PW adjusted for gestational age and sex.</p><p><strong>Results: </strong>Univariable MR (UVMR) analysis revealed that for each 1-SD decrease in fetal genotype-determined PW adjusted for sex only, the risk of CHD increased by 24% (95% CI: 1.05-1.46) and the risk of large artery stroke (LAS) increased by 46% (95% CI: 1.13-1.89). Similar results were obtained in repeated analyses. The mediation MR analysis revealed that the causal relationship between fetal genotype-determined PW and CHD risk was primarily mediated by birthweight, type 2 diabetes, and education, each mediating 3.66% to 40.80% of the total effect. The causal relationship between fetal genotype-determined PW and LAS risk was mediated mainly by type 2 diabetes, which accounted for 22.11% of the total effect.</p><p><strong>Conclusions: </strong>This study identified a unidirectional causal relationship between lower PW and a greater ASCVD risk, with factors such as birthweight, type 2 diabetes, and education mediating the association between PW and ASCVD.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1141-1151"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Mendelian randomization to explore the genetic association between drinking habits of different beverages and sleep disorder.","authors":"Chao Zhang, Xiaoxun Du","doi":"10.5114/aoms/193054","DOIUrl":"10.5114/aoms/193054","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to provide genetic evidence linking drinking habits of different beverages (DHDB) to sleep disorder liability (SDL), potentially informing clinical treatments to improve lifestyle factors.</p><p><strong>Material and methods: </strong>A two-sample Mendelian randomization (MR) method was employed to explore the genetic associations between DHDB and SDL. The DHDB variables studied encompassed alcohol intake (ALI), alcohol intake frequency (ALF), high-frequency drinking with meals (HAL), tea intake (TEAI), coffee intake (COFI), and red wine intake (RWI). The SDL variables analyzed were insomnia (INS), inhibit excitability (IE), and sleep duration (SD).</p><p><strong>Results: </strong>The MR analysis identified genetic links between ALI and INS, ALF and IE, ALF and SD, HAL and INS, HAL and IE, HAL and SD, TEAI and IE, TEAI and SD, and COFI and IE (<i>p</i> (inverse variance weighting - IVW) < 0.05). Nonetheless, no significant genetic links were detected between ALI and IE, ALI and SD, ALF and INS, TEAI and INS, COFI and INS, COFI and SD, RWI and INS, RWI and IE, or RWI and SD (<i>p</i> (IVW) > 0.05).</p><p><strong>Conclusions: </strong>Alcohol intake may elevate insomnia risk without affecting daytime sleepiness or sleep duration. Frequent alcohol consumption may lead to daytime sleepiness and reduced sleep duration but not insomnia. Alcohol with meals might reduce insomnia and daytime sleepiness while improving sleep duration. Tea appears unlinked to insomnia and may reduce daytime drowsiness. Coffee may alleviate daytime drowsiness without causing insomnia, and red wine shows no significant association with sleep disorders. Reverse MR suggests potential links between sleep disorders and alcohol or caffeine intake.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1310-1322"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sleep disturbances and heart failure: observational study and Mendelian randomization study.","authors":"Junwen Wang, Ziyi Sun, Yi Zhong, Yuyang Ye, Xuefeng Chen, Xinru Hu, Yong Peng","doi":"10.5114/aoms/194883","DOIUrl":"10.5114/aoms/194883","url":null,"abstract":"<p><strong>Introduction: </strong>Sleep disturbances are prevalent among patients with heart failure (HF) and may trigger acute exacerbations of the condition. However, the causal relationship between sleep disturbances and HF remains uncertain. This study aimed to explore the association and potential causal relationship between sleep disturbances and HF.</p><p><strong>Material and methods: </strong>Observational study: NHANES data (2005-2008) involving 10,432 participants. Sleep disturbances defined as insomnia, sleep disorders, difficulty falling asleep, trouble sleeping, and nocturnal awakening. Mendelian randomization (MR) study: Genetic variants linked to sleeplessness were obtained from GWAS datasets. MR two-sample analysis was conducted using summary statistics from sleeplessness and HF GWASs.</p><p><strong>Results: </strong>After full adjustment, the association between insomnia and HF remained significant, with an OR of 5.10 (1.81-14.33, <i>p</i> = 0.003). After full adjustment, the association between sleep disorder and HF remained significant, with an OR of 3.51 (1.67-7.39; <i>p</i> = 0.002). The IVW method provided evidence supporting a causal association between sleeplessness and HF (OR = 1.535, SE = 0.177, <i>p</i> = 0.016). MR-Egger analysis demonstrated a causal association between sleeplessness and HF (OR = 3.333, SE = 0.493, <i>p</i> = 0.023). Our observational study may be influenced by unaddressed confounding factors; however, Mendelian randomization helps mitigate the bias and confounding commonly found in non-genetic observational research.</p><p><strong>Conclusions: </strong>Our study identified a correlation between sleep disturbances and HF, potentially suggesting a causal relationship. Addressing sleep disturbances may be a key strategy in reducing the risk of HF.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1222-1232"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between ghrelin and iron metabolism in beta thalassaemia major patients.","authors":"Nihan Cansel Sarkaya, Ayşegül Uğur Kurtoğlu, Sevcan Uğur, Mesut Göçer","doi":"10.5114/aoms/184702","DOIUrl":"10.5114/aoms/184702","url":null,"abstract":"<p><strong>Introduction: </strong>Studies in beta thalassaemia major (β-TM) patients have shown that the responses of HIF2α, hepcidin, and ferroportin molecules to high iron levels are impaired. In recent years, studies conducted in patients with iron deficiency anaemia have investigated the relationship between ghrelin hormone and iron metabolism. In this study, we aimed to contribute to the aetiopathogenesis of this disease by examining the changes in ghrelin hormone levels in patients with β-TM.</p><p><strong>Material and methods: </strong>Fifty-two β-TM and 23 controls were included in our study. Blood counts, routine biochemical parameters, HIF2α, hepcidin, and ghrelin levels were studied in blood samples taken from the volunteers.</p><p><strong>Results: </strong>Erythrocyte indexes, serum bilirubin, iron, unsaturated iron binding capacity, total iron binding capacity, and ferritin levels showed significant differences between the 2 groups (<i>p</i> < 0.05). There was no significant difference between 2 groups for serum HIF2α and hepcidin levels. When the 2 groups were compared, ghrelin levels were found to be significantly higher in the patients (<i>p</i> < 0.05). When the correlation between parameters was examined in all subjects, a weak positive correlation was found between ghrelin and HIF2α (<i>r</i> = 0.263) (<i>p</i> < 0.05), and a significant positive correlation was found between ghrelin and ferritin (<i>r</i> = 0.417) (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>Our study showed that there is a positive correlation between ghrelin and ferritin levels. Elevated ghrelin levels in patients with β-TM may play an important role in regulating impaired iron metabolism. Molecular level studies are needed to determine synthesis pathways.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1354-1360"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between immune cells and membranous nephropathy: a two-sample Mendelian randomization study.","authors":"Congyan Hou, Xinyu Wang, Shuihuan Wang, Jing Li","doi":"10.5114/aoms/194884","DOIUrl":"10.5114/aoms/194884","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple studies have indicated that immune cells play a significant role in the occurrence and development of membranous nephropathy (MN). However, the causal relationship between the two has not been fully established. To further investigate this, we employed a Mendelian randomization (MR) study design.</p><p><strong>Material and methods: </strong>Genetic instrumental variables for immune cells were sourced from an extensive genome-wide association study (GWAS). MN summary statistics, involving 2,150 cases and 5,829 controls, were obtained from a separate GWAS. The primary analysis employed the inverse-variance weighted (IVW) method. To explore reverse causation, a reverse MR analysis was undertaken. Rigorous sensitivity analyses were conducted to ensure the resilience and reliability of the study's findings.</p><p><strong>Results: </strong>We identified eight immunophenotypes associated with a reduced risk of MN, and all of them were protective factors for MN. The sensitivity analyses consistently yielded similar results for these immune traits. In the reverse MR analysis, we did not observe any statistically significant associations between MN and these eight immunophenotypes.</p><p><strong>Conclusions: </strong>Our study, utilizing genetic approaches, provides evidence for a causal relationship between immune cells and MN, which has implications for clinical diagnosis and treatment. Further comprehensive investigations are needed to explore the detailed mechanisms underlying the impact of immune cells on MN.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1263-1270"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between <i>SLC39A8</i> gene and body constitution-related phenotypes and hearing loss: a Mendelian randomization-based study.","authors":"Dan Li, Hui Xu, Heng Li, Ying Cheng, Ying Gao, Xiaotong Zhang, Min Xu, Weijun Ma","doi":"10.5114/aoms/189907","DOIUrl":"10.5114/aoms/189907","url":null,"abstract":"<p><strong>Introduction: </strong>We examined the role of hearing functions as potential mediators in relationships between noise exposures and abnormal body constitution-related results. Additionally, we employed Mendelian randomization (MR) to explore the causative connections between hearing problems and bodily composition.</p><p><strong>Material and methods: </strong>Gene connections pertaining to phenotypes of hearing loss and body constitution were obtained from publicly available summary data collected from adult population genome-wide association studies. Colocalization analysis was utilized to scrutinize the genetic associations pertaining to age-related hearing impairment (ARHI) liability and body mass index (BMI) within the SLC39A8 locus. For a comprehensive examination, we employed bi-directional MR encompassing both the 'forward' direction (from the composition of the body to hearing) and the 'reverse' direction.</p><p><strong>Results: </strong>A common causative variable (rs13107325) for BMI and ARHI at the SLC39A8 locus was supported by colocalization analysis, which revealed that the two diseases shared the variant at the SLC39A8 gene. The forward analyses showed that body fat percentage (BFP) was significantly linked with the risk of ARHI (OR = 0.95 (95% CI: 0.93 to 0.98)) and that waist circumference (WC) was favorably associated with sensorineural hearing loss (SNHL) (OR = 0.83 (95% CI: 0.72 to 0.97)).</p><p><strong>Conclusions: </strong>We did not find evidence to support a causal relationship between constitution and HL in the reverse MR analysis. Colocalization analysis indicated that the SLC39A8 variant was often the source of high ARHI and BMI risk. In prospective MR, we discovered causal associations between WC and BFP with SNHL and ARHI, respectively. Therefore, our results suggest that lipid metabolic abnormalities leading to adverse health outcome may lead to HL.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1-10"},"PeriodicalIF":3.3,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}