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Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche

Science China(Life Sciences) 2012年第6期55卷 516-520页

作者： HAI Rong ZHANG Lei PEI YuFang ZHAO LanJuan RAN Shu HAN YingYing ZHU XueZhen SHEN Hui TIAN Qing DENG HongWen Center of System Biomedical Sciences University of Shanghai for Science and Technology Shanghai 200093 China The Affiliated Hospital of lnner Mongolia Medical College Huhhot 010050. China Department of Biostatistics Tulane University. New Orleans LA 70112 USA

lean body mass （LBM） and age at menarche （AAM） are two important complex traits for human health. The aim of this study was to identify pleiotropic genes for both traits using a powerful bivariate genome-wide association study （GWAS）. Two stud- ies, a discovery study and a replication study, were performed. In the discovery study, 909622 single nucleotide polymor- phisms （SNPs） were genotyped in 801 unrelated female Han Chinese subjects using the Affymetrix human genome-wide SNP array 6.0 platform. Then, a bivariate GWAS was performed to identify the SNPs that may be important for LBM and AAM. In the replication study, significant findings from the discovery study were validated in 1692 unrelated Caucasian female subjects One SNP rs3027009 that was bivafiately associated with left arm lean mass and AAM in the discovery samples （P=7.26x10-6） and in the replication samples （P=0.005） was identified. The SNP is located at the upstream of DARC （Duffy antigen receptor for chemokines） gene, suggesting that DARC may play an important role in regulating the metabolisms of both LBM and AAM.

关键词： bivariate genome-wide association study age at menarche lean body mass DARC gene

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Plasma transthyretin is a nutritional biomarker in human morbidities

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Frontiers of Medicine 2022年第4期16卷 540-550页

作者： Yves Ingenbleek Faculty of Pharmacy Laboratory of NutritionUniversity of StrasbourgRoute du RhinIllkirch–Graffenstaden F-67401(Strasbourg)France

Transthyretin(TTR)is a small liver-secreted plasma protein that shows close correlations with changes in lean body mass(LBM)during the entire human lifespan and agglomerates the bulk of nitrogen(N)-containing substrates,hence constituting the cornerstone of body *** acids(AAs)dietary restriction causes inhibition of TTR production and impairs the accretion of LBM *** disorders result in cytokine-induced abrogation of TTR synthesis and urinary leakage of nitrogenous *** together,the data indicate that malnutrition and inflammation may similarly suppress the production of TTR through distinct and unrelated pathophysiological mechanisms while operating in concert to downsize LBM *** hepatic synthesis of TTR integrates both machineries,acting as a marker of reduced LBM resources still available for defense and repair *** operates as a universal surrogate analyte that allows for the grading of residual LBM capacity to reflect disease *** of TTR is a simple,rapid,and inexpensive micromethod that may be reproduced on a daily basis,hence ideally suited for the follow-up of the most intricated clinical situations and as a reliable predictor of any morbidity outcome.

关键词： lean body mass nutritional status transthyretin malnutrition inflammation amyloidosis

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Muscle function, physical performance and body composition changes in men with prostate cancer undergoing androgen deprivation therapy

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Asian Journal of Andrology 2012年第2期14卷 204-221页

作者： Thomas W Storet Renee Miciek Thomas G Travison Section of Endocrinology Diabetes and Nutrition Boston University School of Medicine Boston MA 02118 USA

Prostate cancer （PCa） is the most common visceral malignancy in men with androgen deprivation therapy （ADT） the preferred therapy to suppress testosterone production and hence tumor growth. Despite its effectiveness in lowering testosterone, ADT is associated with side effects including loss of muscle mass, diminished muscle strength, decrements in physical performance, earlier fatigue and declining quality of life. This review reports a survey of the literature with a focus on changes in muscle strength, physical function and body composition, due to short-term and long-term ADT. Studies in these areas are sparse, especially well-controlled, prospective randomized trials. Cross-sectional and longitudinal data （up to 2 years） for men with PCa treated with ADT as well as patients with PCa not receiving ADT and age-matched healthy men are presented when available. Based on limited longitudinal data, the adverse effects of ADT on muscle function, physical performance and body composition occur shortly after the onset of ADT and tend to persist and worsen over time. Exercise training is a safe and effective intervention for mitigating these changes and initial guidelines for exercise program design for men with PCa have been published by the American College of Sports Medicine. Disparities in study duration, types of studies and other patient-specific variables such as time since diagnosis, cancer stage and comorbidities may all affect an understanding of the influence of ADT on health, physical performance and mortality.

关键词： androgen deprivation therapy androgen suppression exercise prescription exercise training functional assessment lean body mass older men prostate cancer

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Prognostic role of sarcopenia in metastatic colorectal cancer patients during first-line chemotherapy:A retrospective study

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World Journal of Clinical Oncology 2021年第5期12卷 355-366页

作者： Chiara Maddalena Andrea Ponsiglione Luigi Camera Lidia Santarpia Fabrizio Pasanisi Dario Bruzzese Camilla Panico Giovanni Fiore Simona Camardella Tolomeo Caramia Alessia Farinaro Sabino De Placido Chiara Carlomagno Department of Clinical Medicine and Surgery University of Naples Federico IINaples 80131Italy Department of Advanced Biomedical Sciences University of Naples Federico IINaples 80131Italy Department of Public Health University of Naples Federico IINaples 80131Italy

BACKGROUND Sarcopenia is a condition characterized by decreased skeletal muscle mass due to physiological ageing or to a concomitant disease such as *** cancer patients,a low lean body mass is suggested to be a negative prognostic factor for survival and for the development of dose-limiting chemotherapy toxicities irrespective of disease *** To evaluate the prognostic role of sarcopenia in patients with metastatic colorectal cancer(mCRC)undergoing first-line *** Our retrospective analysis included 56 mCRC patients who received first-line chemotherapy from 2014 to 2017 at the Medical Oncology Unit of our *** scans were performed before starting chemotherapy and at the first disease *** was assessed using the skeletal mass index=muscle area in cm^(2)/(height in m^(2))calculated at the L3 *** survival and objective response rate were *** were analyzed during the first four cycles of therapy and graded according to Common Terminology Criteria for Adverse Events version 4.0.A loss of skeletal muscle mass≥5%was considered indicative of deterioration in muscle *** Median age was 67 years and 35.7%of patients were≥70 years *** patients(25%)were sarcopenic at baseline computed tomography(CT)scan(7/33 men;7/23 women);5/14 sarcopenic patients were≥70 years *** followup was 26.8 mo(3.8-66.8 mo)and median overall survival was 27.2 mo(95%CI:23.3-37.3).Sarcopenia was not correlated to overall survival(P=0.362),to higher toxicities reported during the first 4 cycles of chemotherapy(P=1.0)or to response to treatment(P=0.221).At the first disease reassessment,a skeletal muscle loss(SML)≥5%was found in 17 patients(30.3%)3 of whom were already sarcopenic at baseline CT scan,while 7 patients became *** was not correlated to overall survival(P=0.961).No statistically significant correlation was found between baseline sarcopenia and age(P=1.0),body m

关键词： Sarcopenia lean body mass Skeletal muscle mass Metastatic colorectal cancer

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Reproducibility of serial creatinine excretion measurements in peritoneal dialysis

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World Journal of Nephrology 2017年第4期6卷 201-208页

作者： ZhiXu Glen H Murata Yijuan Sun Robert H Glew Clifford Qualls Darlene Vigil Karen SServilla Thomas A Golper Antonios H Tzamaloukas Nephrology Division Department of MedicineUni-versity of New Mexico School of MedicineAlbuquerqueNM 87131United States Research Service Raymond G Murphy Veterans Affairs Medical CenterAlbuquerqueNM 87108United States Renal Section Medicine ServiceRaymond G Murphy VA Medical Center and Department of MedicineUniversity of New Mexico School of MedicineAlbuquerqueNM 87108United States Department of Surgery University of New Mexico School of MedicineAlbuquerqueNM 87131United States Division of Nephrology and Hypertension Vanderbilt UniversityNashvilleTN 37212United States Renal Section and Research Service Raymond G Murphy VA Medical Center and Department of MedicineUniversity of New Mexico School of MedicineAlbu-querqueNM 87108United States

AIMTo test whether muscle mass evaluated by creatinine excretion （EXCr） is maintained in patients with end-stage kidney disease （ESKD） treated by peritoneal dialysis （PD）, we evaluated repeated measurements of EXCr in a PD *** hundred and sixty-six PD patients （94 male, 72 female） receiving the same PD dose for the duration of the study （up to approximately 2.5 years） had repeated determinations of total （in urine plus spent dialysate） 24-h EXCr （EXCr T） to assess the adequacy of PD by creatinine clearance. All 166 patients had two EXCr T determinations, 84 of the 166 patients had three EXCr T determinations and 44 of the 166 patients had four EXCr T measurements. EXCr T values were compared using the paired t test in the patients who had two studies and by repeated measures ANOVA in those who were studied three or four *** patients who were studied twice, with the first and second EXCr T measurements performed at 9.2 ± 15.2 mo and 17.4 ± 15.8 mo after onset of PD, respectively, EXCr T did not differ between the first and second study. In patients studied three times and whose fnal assessment occurred 24.7 ± 16.3 mo after initiating PD, EXCr T did not differ between the first and second study, but was significantly lower in the third study compared to the frst study. In patients who were studied four times and whose fourth measurement was taken 31.9 ± 16.8 mo after onset of PD, EXCr T did not differ between any of the studies. The average EXCr T value did not change signifcantly, with the exception of the third study in the patients studied thrice. However, repeated determinations of EXCr T in individuals showed substantial variability, with approximately 50% of the repeated determinations being higher or lower than the first determination by 15% or *** average value of EXCr T remains relatively constantfor up to 2.5 years of follow-up in PD patients who adhereto the same PD schedule. However, repeated individualEXCr T

关键词： Creatinine excretion Peritoneal dialysis lean body mass Muscle mass

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