1.Association Between MTHFR C677T Gene Polymorphism and Hypertension, Hyperhomocysteinemia and Hyperlipidemia in Tibet Region
Pengchang LI ; Danni MU ; Zhijuan LIU ; Xiaoxing LIU ; Puchi ZEJI ; Liping TIAN ; Honglei LI ; Li'an HOU ; Dandan LI ; Jie WU ; Ling QIU
Medical Journal of Peking Union Medical College Hospital 2026;17(1):280-285
To explore the correlation between MTHFR C677T gene polymorphism and hypertension, hyperhomocysteinemia(Hcy), and hyperlipidemia in the Tibetan population of Tibet. Using a cluster sampling method, participants from high-altitude regions including Ngari Prefecture, Lhasa City, and Nyingchi City in Tibet were enrolled. Differences in MTHFR C677T genotype distribution among individuals with hypertension, HHcy, and hyperlipidemia were analyzed, and multivariate logistic regression was performed to assess the association between these conditions and the TT genotype. A total of 574 eligible subjects were included, with a mean age of 40.64±12.67 years. Males accounted for 46.7%(268/574) and females 53.3%(306/574). Regional distribution was 34.8%(200/574) from Nyingchi City, 33.1%(190/574) from Lhasa City, and 32.1%(184/574) from Ngari Prefecture. Mean systolic and diastolic blood pressures were 117.89±18.98 mm Hg and 79.74±14.88 mm Hg, respectively. The frequency of the TT genotype was significantly higher in the hypertension group than in the non-hypertension group(12.32% The MTHFR C677T TT genotype is significantly associated with hypertension and hyperhomocysteinemia in the Tibetan population, suggesting that this polymorphism may be a genetic risk factor for these diseases in high-altitude regions.
2.Establishment of reference intervals of serum immunoglobulin and complement by Hoffmann and refineR algorithms and evaluation of their feasibility
Danni MU ; Chaochao MA ; Yichen MA ; Yumeng GAO ; Xinqi CHENG
Chinese Journal of Laboratory Medicine 2025;48(2):241-248
Objective:To calculate the reference intervals of immune globulinG (IgG), IgA, IgM, complement 3 (C3) and C4 for adults using Hoffmann and refineR methods, and to compare them with the reference interval reported by WS/T 645 of the People′s Republic of China, exploring the clinical application value of the indirect methods.Methods:Cross-sectional study. The physical examination data were collected at Peking Union Medical College Hospital from 2013 to 2023. Box-Cox was used to normalize the data distribution, and the Tukey method was used to remove outliers. Mann-Whitney test and Kruskal-Wallis test were used to compare the differences between gender and age, respectively. Quantile regression analysis was used to examine the effects of age and gender. Hoffmann and refineR methods were employed to calculate RIs of the five parameters.Results:There were 82 251, 82 483, 49 236, 20 027 and 19 942 test results for IgG, IgA, IgM, C3 and C4, respectively. Gender was significantly correlated with IgG, IgA, IgM, C3, and C4 levels, and age was significantly correlated with IgA, IgM, C3, and C4 levels. Reference intervals were calculated using both Hoffmann and refineR methods, yielding comparable results: IgG (7.58-16.85 g/L; 7.54-16.88 g/L), IgA (0.97-4.26 g/L; 0.97-4.34 g/L), C3 (0.73-1.43 g/L; 0.73-1.44 g/L), and C4 (0.11-0.32 g/L). Gender-specific intervals were established for IgM: women (0.44-2.57 g/L; 0.44-2.62 g/L) and men (0.33-1.91 g/L; 0.31-1.87 g/L). Gender and/or age-specific reference intervals were further calculated according to the bias ratio values. The reference intervals calculated by Hoffmann and refineR are in good agreement. The upper and lower limits of reference intervals for IgA and C3, the lower limits of IgG, the upper limits of IgM and C3 calculated by the indirect methods have good comparability with those reported by standards.Conclusions:The total and gender/age-specific reference intervals of IgG, IgA, IgM, C3 and C4 in our hospital population were established by Hoffmann and refineR methods, and the reference intervals established by the two indirect methods were comparable. The reference intervals calculated using these indirect methods were also comparable with those established using the direct method reported in current health standards.
3.Establishment of reference intervals of serum immunoglobulin and complement by Hoffmann and refineR algorithms and evaluation of their feasibility
Danni MU ; Chaochao MA ; Yichen MA ; Yumeng GAO ; Xinqi CHENG
Chinese Journal of Laboratory Medicine 2025;48(2):241-248
Objective:To calculate the reference intervals of immune globulinG (IgG), IgA, IgM, complement 3 (C3) and C4 for adults using Hoffmann and refineR methods, and to compare them with the reference interval reported by WS/T 645 of the People′s Republic of China, exploring the clinical application value of the indirect methods.Methods:Cross-sectional study. The physical examination data were collected at Peking Union Medical College Hospital from 2013 to 2023. Box-Cox was used to normalize the data distribution, and the Tukey method was used to remove outliers. Mann-Whitney test and Kruskal-Wallis test were used to compare the differences between gender and age, respectively. Quantile regression analysis was used to examine the effects of age and gender. Hoffmann and refineR methods were employed to calculate RIs of the five parameters.Results:There were 82 251, 82 483, 49 236, 20 027 and 19 942 test results for IgG, IgA, IgM, C3 and C4, respectively. Gender was significantly correlated with IgG, IgA, IgM, C3, and C4 levels, and age was significantly correlated with IgA, IgM, C3, and C4 levels. Reference intervals were calculated using both Hoffmann and refineR methods, yielding comparable results: IgG (7.58-16.85 g/L; 7.54-16.88 g/L), IgA (0.97-4.26 g/L; 0.97-4.34 g/L), C3 (0.73-1.43 g/L; 0.73-1.44 g/L), and C4 (0.11-0.32 g/L). Gender-specific intervals were established for IgM: women (0.44-2.57 g/L; 0.44-2.62 g/L) and men (0.33-1.91 g/L; 0.31-1.87 g/L). Gender and/or age-specific reference intervals were further calculated according to the bias ratio values. The reference intervals calculated by Hoffmann and refineR are in good agreement. The upper and lower limits of reference intervals for IgA and C3, the lower limits of IgG, the upper limits of IgM and C3 calculated by the indirect methods have good comparability with those reported by standards.Conclusions:The total and gender/age-specific reference intervals of IgG, IgA, IgM, C3 and C4 in our hospital population were established by Hoffmann and refineR methods, and the reference intervals established by the two indirect methods were comparable. The reference intervals calculated using these indirect methods were also comparable with those established using the direct method reported in current health standards.
4.Comparison of Direct and Extraction Immunoassay Methods With Liquid Chromatography-Tandem Mass Spectrometry Measurement of Urinary Free Cortisol for the Diagnosis of Cushing’s Syndrome
Danni MU ; Jiadan FANG ; Songlin YU ; Yichen MA ; Jin CHENG ; Yingying HU ; Ailing SONG ; Fang ZHAO ; Qi ZHANG ; Zhihong QI ; Kui ZHANG ; Liangyu XIA ; Ling QIU ; Huijuan ZHU ; Xinqi CHENG
Annals of Laboratory Medicine 2024;44(1):29-37
Background:
Twenty-four-hour urinary free cortisol (UFC) measurement is the initial diagnostic test for Cushing’s syndrome (CS). We compared UFC determination by both direct and extraction immunoassays using Abbott Architect, Siemens Atellica Solution, and Beckman DxI800 with liquid chromatography-tandem mass spectrometry (LC-MS/MS). In addition, we evaluated the value of 24-hr UFC measured by six methods for diagnosing CS.
Methods:
Residual 24-hr urine samples of 94 CS and 246 non-CS patients were collected.A laboratory-developed LC-MS/MS method was used as reference. UFC was measured by direct assays (D) using Abbott, Siemens, and Beckman platforms and by extraction assays (E) using Siemens and Beckman platforms. Method was compared using Passing–Bablok regression and Bland–Altman plot analyses. Cut-off values for the six assays and corresponding sensitivities and specificities were calculated by ROC analysis.
Results:
Abbott-D, Beckman-E, Siemens-E, and Siemens-D showed strong correlations with LC-MS/MS (Spearman coefficient r = 0.965, 0.922, 0.922, and 0.897, respectively), while Beckman-D showed weaker correlation (r = 0.755). All immunoassays showed proportionally positive bias. The areas under the curve were 0.975 for Abbott-D, 0.972 for LCMS/MS, 0.966 for Siemens-E, 0.948 for Siemens-D, 0.955 for Beckman-E, and 0.877 for Beckman-D. The cut-off values varied significantly (154.8–1,321.5 nmol/24 hrs). Assay sensitivity and specificity ranged from 76.1% to 93.2% and from 93.0% to 97.1%, respectively.
Conclusions
Commercially available immunoassays for measuring UFC show different levels of analytical consistency compared to LC-MS/MS. Abbott-D, Siemens-E, and Beckman-E have high diagnostic accuracy for CS.
5.Research status and hotspots of pain catastrophizing at home and abroad based on CiteSpace software
Caiying LI ; Xin ZHAO ; Mu JIN ; Danni WANG ; Ruiqi ZHU ; Ting WANG
Chinese Journal of Modern Nursing 2023;29(16):2152-2158
Objective:To analyze the current status, hotspots and frontiers of pain catastrophizing at home and abroad from 2012 to 2022, so as to provide reference for research on pain catastrophizing in China.Methods:Article retrieval were conducted on the Web of Science, China National Knowledge Infrastructure, WanFang Data and VIP using the Chinese and English keywords "pain catastrophizing". The search period was from January 1, 2012 to August 24, 2022. The articles were analyzed using the CiteSpace software.Results:A total of 2036 English articles and 83 Chinese articles were included. The overall number of articles was increasing year by year, with the countries and institutions with the highest publication volume being the United States and the University of Washington. Research hotspots at home and abroad included pain, low back pain, quality of life, influencing factors, anxiety, depression, joint replacement, scale validation, kinesiophobia and so on.Conclusions:The research on pain catastrophizing abroad is increasingly receiving widespread attention, while domestic research is still in its infancy. Domestic researchers can use various methods to explore the occurrence and influencing factors of pain catastrophizing among different disease groups in China, deeply explore the mechanism of pain catastrophizing, and focus on the correlation between pain catastrophizing and exercise rehabilitation outcomes to help patients cope with pain.

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