1.The efficacy of oral solution of magnesium sodium potassium sulfate in bowel preparation before colonoscopy
Xin HUANG ; Rujie YANG ; Feng QIN ; Shilian ZHANG ; Xin WU ; Xiaoyan YIN
Journal of Pharmaceutical Practice and Service 2026;44(2):85-87
Objective To explore the efficacy and safety of oral solution of magnesium sodium potassium sulfate in bowel preparation before colonoscopy. Methods Patients who planned to undergo colonoscopy at the digestive department of the Ninth People’s Hospital, affiliated to School of Medicine of Shanghai Jiao Tong University from January 2023 to August 2023 were selected and eligible subjects were divided into two groups: Group A took polyethylene glycol (PEG) and Group B took oral solution of magnesium sodium potassium sulfate (OSS). The quality, drug tolerance, and safety of intestinal preparation were evaluated. The quality of bowel preparation was evaluated by the boston bowel preparation scale (BBPS). Results The right colon BBPS score of Group B was (2.39±0.82) points, which was significantly higher than of Group A (2.11±0.43) points (P<0.05). The overall score of Group B was higher than that of Group A (P<0.05). OSS was easier to take than PEG, with a good taste and overall sensation. Patients were willing to use OSS to clean their bowels even when they were willing to undergo another examination (P<0.05). There was a significant difference in nausea and vomiting symptoms between the two groups (P<0.05), and there were no significant changes in renal function and electrolytes before and after medication in the two groups of patients. Conclusion OSS had a higher quality of bowel cleaning and was easier for patients to accept.
2.Scoping review of medication-related risk factors for falls in older adults
Liyu QIN ; Xufeng LONG ; Hongya CAO ; Keyuan LIANG ; Mingmei HUANG ; Hongliang ZHANG
China Pharmacy 2026;37(7):960-964
OBJECTIVE To systematically review medication-related risk factors for falls in older adults, to provide references for ensuring medication safety among older adults. METHODS A systematic search was conducted in PubMed, Embase, Web of Science, and CNKI for relevant literature published from database inception to November 1, 2025. Relevant studies on medication-related falls in older adults, both domestic and international, were included. Drug factors influencing falls in older adults were summarized and analyzed. RESULTS A total of 22 studies were included. Four major classes of fall-risk-increasing drugs were identified: psychotropic medications [12 studies, odds ratio (OR) range 1.500-5.790], cardiovascular system drugs (5 studies, OR range 1.236-4.784), analgesics (3 studies, OR range 1.500-4.490), and hypoglycemic agents (3 studies, OR range 2.070-2.751). Additionally, anticholinergic burden (1 study, OR was 2.610) and polypharmacy (7 studies, OR range 2.902-25.897 for the use of ≥4 medications) were identified as significant risk factors for falls. CONCLUSIONS Falls in older adults are significantly associated with psychotropic medications, cardiovascular system drugs, analgesics, and hypoglycemic agents, among which psychotropic medications pose the highest risk. Anticholinergic burden and polypharmacy are also important risk factors. In clinical practice, interventions should be implemented through deprescribing and risk monitoring to effectively reduce the risk of falls in older adults.
3.Zuogui Jiangtang Shuxin Prescription Ameliorates Lipid Deposition in Diabetic Cardiomyopathy of MKR Mice by Regulating AMPK/FoxO1/CD36 Signaling Pathway
Xiu LIU ; Juping WANG ; Jiawang HUANG ; Junju ZOU ; Qin XIANG ; Yunfeng YU ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):134-142
ObjectiveTo investigate the ameliorative effects and related mechanisms of the Zuogui Jiangtang Shuxin prescription (ZJSP) on glucose and lipid metabolism disorders in MKR mice with diabetic cardiomyopathy (DCM), with a focus on elucidating its regulatory role on the adenosine monophosphate-activated protein kinase (AMPK)/forkhead box protein O1 (FoxO1)/cluster of differentiation 36 (CD36) signaling pathway and lipid deposition. MethodsFifty 8-week-old male MKR mice were fed a high-fat diet for four weeks and then intraperitoneally injected with streptozotocin (STZ) while maintaining a high-fat diet to establish a DCM model. The mice were randomly divided into the model group, the low-dose(14.43 g·kg-1)and high-dose(28.86 g·kg-1) ZJSP groups, and the metformin group (0.25 g·kg-1), with age-matched FVB mice as a normal control group. Each group received intragastric administration of normal saline or corresponding concentrations of ZJSP at equal volumes. After four weeks, fasting blood glucose (FBG) and cardiac function were measured. Blood was collected from the eyeballs under anesthesia to detect fasting insulin (FINS) and blood lipid levels. Myocardial tissue morphology was observed by hematoxylin-eosin (HE) staining, and lipid deposition in the heart was assessed using oil red O staining. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to measure the mRNA expression levels of AMPK, FoxO1, and CD36 in myocardial tissues. Western blot was employed to detect the protein expression levels of AMPK, p-AMPK, FoxO1, p-FoxO1, and CD36. ResultsCompared with the control group, the model group showed significantly increased levels of FBG and FINS (P<0.01), elevated levels of triglycerides (TG), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-C) (P<0.01), and significantly decreased left ventricular ejection fraction (EF) and fractional shortening (FS) values (P<0.01). HE staining revealed marked cardiomyocyte hypertrophy, disarray, and widened intercellular spaces in myocardial tissues. Oil Red O staining showed extensive red deposition areas and fine lipid droplet accumulation in the myocardial tissue. AMPK mRNA expression was decreased, while FoxO1 and CD36 mRNA expressions were significantly increased (P<0.01). The p-AMPK/AMPK protein expression ratio in myocardial tissues was significantly reduced, while the p-FoxO1/FoxO1 protein expression ratio and CD36 protein expression levels were significantly increased (P<0.01). Compared with the model group, all treatment groups exhibited significantly reduced FBG (P<0.01), decreased FINS and blood lipid levels (TG, TC, LDL-C) (P<0.05, P<0.01), improved cardiac function (P<0.05), noticeable amelioration of myocardial histopathological morphology and lipid deposition, increased AMPK mRNA expression (P<0.01), with significantly downregulated FoxO1 and CD36 mRNA expressions (P<0.01), elevated p-AMPK/AMPK protein expression levels in myocardial tissue (P<0.05), significantly decreased p-FoxO1/FoxO1 ratios (P<0.01), and downregulated CD36 protein expression levels (P<0.05, P<0.01). ConclusionZJSP exerts a protective effect on the heart in type 2 DCM of MKR mice, and its mechanism may be associated with the regulation of the AMPK/FoxO1/CD36 signaling pathway.
4.Zuogui Jiangtang Shuxin Prescription Ameliorates Lipid Deposition in Diabetic Cardiomyopathy of MKR Mice by Regulating AMPK/FoxO1/CD36 Signaling Pathway
Xiu LIU ; Juping WANG ; Jiawang HUANG ; Junju ZOU ; Qin XIANG ; Yunfeng YU ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):134-142
ObjectiveTo investigate the ameliorative effects and related mechanisms of the Zuogui Jiangtang Shuxin prescription (ZJSP) on glucose and lipid metabolism disorders in MKR mice with diabetic cardiomyopathy (DCM), with a focus on elucidating its regulatory role on the adenosine monophosphate-activated protein kinase (AMPK)/forkhead box protein O1 (FoxO1)/cluster of differentiation 36 (CD36) signaling pathway and lipid deposition. MethodsFifty 8-week-old male MKR mice were fed a high-fat diet for four weeks and then intraperitoneally injected with streptozotocin (STZ) while maintaining a high-fat diet to establish a DCM model. The mice were randomly divided into the model group, the low-dose(14.43 g·kg-1)and high-dose(28.86 g·kg-1) ZJSP groups, and the metformin group (0.25 g·kg-1), with age-matched FVB mice as a normal control group. Each group received intragastric administration of normal saline or corresponding concentrations of ZJSP at equal volumes. After four weeks, fasting blood glucose (FBG) and cardiac function were measured. Blood was collected from the eyeballs under anesthesia to detect fasting insulin (FINS) and blood lipid levels. Myocardial tissue morphology was observed by hematoxylin-eosin (HE) staining, and lipid deposition in the heart was assessed using oil red O staining. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to measure the mRNA expression levels of AMPK, FoxO1, and CD36 in myocardial tissues. Western blot was employed to detect the protein expression levels of AMPK, p-AMPK, FoxO1, p-FoxO1, and CD36. ResultsCompared with the control group, the model group showed significantly increased levels of FBG and FINS (P<0.01), elevated levels of triglycerides (TG), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-C) (P<0.01), and significantly decreased left ventricular ejection fraction (EF) and fractional shortening (FS) values (P<0.01). HE staining revealed marked cardiomyocyte hypertrophy, disarray, and widened intercellular spaces in myocardial tissues. Oil Red O staining showed extensive red deposition areas and fine lipid droplet accumulation in the myocardial tissue. AMPK mRNA expression was decreased, while FoxO1 and CD36 mRNA expressions were significantly increased (P<0.01). The p-AMPK/AMPK protein expression ratio in myocardial tissues was significantly reduced, while the p-FoxO1/FoxO1 protein expression ratio and CD36 protein expression levels were significantly increased (P<0.01). Compared with the model group, all treatment groups exhibited significantly reduced FBG (P<0.01), decreased FINS and blood lipid levels (TG, TC, LDL-C) (P<0.05, P<0.01), improved cardiac function (P<0.05), noticeable amelioration of myocardial histopathological morphology and lipid deposition, increased AMPK mRNA expression (P<0.01), with significantly downregulated FoxO1 and CD36 mRNA expressions (P<0.01), elevated p-AMPK/AMPK protein expression levels in myocardial tissue (P<0.05), significantly decreased p-FoxO1/FoxO1 ratios (P<0.01), and downregulated CD36 protein expression levels (P<0.05, P<0.01). ConclusionZJSP exerts a protective effect on the heart in type 2 DCM of MKR mice, and its mechanism may be associated with the regulation of the AMPK/FoxO1/CD36 signaling pathway.
5.Expert consensus on the clinical application of parenteral direct thrombin inhibitors in special populations
Xin YAO ; Yuan BIAN ; Lizhu HAN ; Qinan YIN ; Yang LEI ; Zimeng WAN ; Luyao HUANG ; Danjie ZHAO ; Yu YAN ; Qin LI ; Baorong HU
China Pharmacy 2026;37(8):965-975
OBJECTIVE To form an expert consensus addressing clinical issues regarding the use of parenteral direct thrombin inhibitors (DTIs) in special populations. METHODS Led by the Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital(the Affiliated Hospital of UESTC), a multidisciplinary working group was formed comprising experts from multiple fields, including clinical pharmacy, cardiac surgery, obstetrics, pediatrics and evidence-based medicine. Through literature review and the Delphi method, clinical questions regarding the efficacy and safety of parenteral DTIs used in special populations were identified. A structured design was adopted using the “Population-Intervention-Comparison-Outcome” (PICO) framework;systematic searches were conducted in CJFD, PubMed, Embase and other databases. Relevant evidence from randomized controlled trials,cohort studies and systematic reviews were included and synthesized. Evidence quality was assessed using the Grading of Recommendations Assessment,Development and Evaluation (GRADE) approach, and recommendations were formulated through three rounds of Delphi surveys and expert consensus meetings. RESULTS &CONCLUSIONS Seven clinical questions were ultimately selected (with a consensus rate exceeding 90%), resulting in the formulation of seven recommendations on the use of parenteral DTIs in special populations, including children, pregnant women, patients with hepatic or renal impairment, patients with mesenteric venous thrombosis, and individuals with thrombophilia. These recommendations clarify the preferred agents, dosing ranges, monitoring parameters, and safety management strategies for parenteral DTIs in these special populations. This expert consensus, which is formulated based on the best available evidence, provides evidence-based guidance for standardized and individualized use of parenteral DTIs in special populations.
6.Exploring Chemical Constituent Distribution in Blood/Brain(Hippocampus) and Emotional Regulatory Effect of Raw and Vinegar-processed Products of Citri Reticulatae Pericarpium Viride
Yi BAO ; Yonggui SONG ; Qianmin LI ; Zhifu AI ; Genhua ZHU ; Ming YANG ; Huanhua XU ; Qin ZHENG ; Yiting HUANG ; Zihan GAO ; Dan SU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(2):189-197
ObjectiveTo investigate the migration and distribution characteristics of chemical constituents in blood and hippocampal tissues before and after vinegar processing of Citri Reticulatae Pericarpium Viride(CRPV), and to explore the potential material basis and mechanisms underlying their regulatory effects on emotional disorders by comparing the effects of raw and vinegar-processed products of CRPV. MethodsUltra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS/MS) was employed to characterize and identify the chemical constituents of raw and vinegar-processed products of CRPV extracts, as well as their migrating components in blood and hippocampal tissues after oral administration. Reference standards, databases, and relevant literature were utilized for compound annotation, with data processing performed using PeakView 1.2 software. Seventy male C57BL/6 mice were randomly divided into seven groups, including the blank group, model group, diazepam group(2.5 mg·kg-1), raw CRPV low/high dose groups(0.6, 1.2 g·kg-1), and vinegar-processed CRPV low/high dose groups(0.6, 1.2 g·kg-1), with 10 mice per group. Except for the blank group, all other groups underwent chronic restraint stress(2 h·d-1) for 20 d. Each drug-treated group received oral administration at the predetermined dose starting 10 d after modeling, with a total treatment duration of 10 d. Following model-based drug administration, mice underwent open-field, forced swimming, and elevated plus maze tests. After anesthesia with isoflurane, whole brains were collected from each group of mice, and hippocampi were dissected. Reactive oxygen species(ROS) level in hippocampal tissues was quantified by enzyme-linked immunosorbent assay(ELISA). Hematoxylin-eosin(HE) staining was used to observe hippocampal tissue morphology. Immunofluorescence was performed to detect neuronal nuclei(NeuN) and peroxisome proliferator-activated receptor alpha(PPARα) expressions in hippocampal tissue. Then, pharmacodynamic evaluations were conducted to assess the effects of raw and vinegar-processed CRPV on mood disorders, exploring the potential mechanisms. ResultsVinegar processing caused significant changes in the chemical composition of CRPV, with 18 components showing increased relative content and 35 components showing decreased relative content. The primary changes occurred in flavonoid compounds, including 20 flavonoids, 20 flavonoid glycosides, 3 triterpenes, 3 phenolic acids, 1 alkaloid, and 6 other compounds. Twenty-one components were detected in blood(15 methoxyflavones, 4 flavonoid glycosides, and 2 phenolic acids), with 17 shared between raw and vinegar-processed CRPV. Seven components reached hippocampal tissues(all common to both forms). In regulating emotional disorders, Vinegar-processed CRPV exhibited superior antidepressant-like effects compared to raw products. HE staining revealed that both treatments improved hippocampal neuronal morphology, particularly in the damaged CA1 and CA3 regions. Immunofluorescence and ELISA analyses demonstrated that both raw and vinegar-processed CRPV significantly modulated NeuN and PPARα expressions in hippocampal tissue while alleviating oxidative stress induced by excessive ROS(P<0.05). ConclusionThe chemical composition of CRPV undergoes changes after vinegar processing, but the migrating components in blood and hippocampus are primarily methoxyflavonoids. These components may serve as the potential material basis for activating the PPARα pathway, thereby negatively regulating ROS generation in the hippocampus, reducing oxidative stress, and promoting the development of NeuN-positive neurons. These findings provide experimental evidence for enhancing quality standards, pharmacodynamic material research, and active drug development of raw and vinegar-processed CRPV.
7.Syndrome Differentiation and Treatment Mechanisms of Inflammatory Injury in Diabetic Cardiomypathy from Theory of "Gaozhuo"
Xiaoyue WANG ; Yunfeng YU ; Xiangning HUANG ; Yixin XIANG ; Sihao ZHANG ; Qin XIANG ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(2):235-244
Diabetic cardiomyopathy (DCM) is one of the most common complications of diabetes mellitus and is a major threat to global health. As a key mechanism in the occurrence and progression of DCM, the inflammatory response persists throughout the entire course of the DCM. The Gaozhuo theory suggests that the basic pathogenesis of inflammatory injury in DCM is the Qi deficiency of spleen and kidney and Gaozhuo invasion, and divides the pathological process into three phases: Gaozhuo invasion, turbid heat damage to the channels, and turbid blood stasis and heat junction. Among them, the Qi deficiency of spleen and kidney and the endogenous formation of Gaozhuo represent the process of inflammatory factor formation induced by glucose metabolism disorders. Turbid heat damage to the channels refers to the process of myocardial inflammatory injury mediated by inflammatory factors, and turbid blood stasis and heat junction are the process of myocardial injury developing toward myocardial fibrosis and ventricular remodeling. As the disease continues to progress, it eventually develops into a depletion of the heart Yang, leading to the ultimate regression of heart failure. According to the theory of Gaozhuo, traditional Chinese medicine (TCM) should regulate inflammatory injury in DCM by strengthening the spleen and tonifying the kidney to address the root cause, and resolving dampness and lowering turbidity to treat the symptoms. If the turbidity has been stored for a long time and turns into heat, strengthening the spleen and tonifying the kidney, and clearing heat and resolving turbidity should be the therapy. If the turbidity, stasis, and heat are knotted in the heart and collaterals, strengthening the spleen and tonifying the kidney, and resolving stasis and lowering turbidity should be the therapy. TCM compounds and monomers can regulate the inflammatory response in DCM. TCM compounds can be divided into the categories for benefiting Qi to resolve turbidity, benefiting Qi and clearing heat to resolve turbidity, and benefiting Qi and activating blood to reduce turbidity. The compounds can inhibit upstream signals of inflammation and expression of inflammatory factors, improve the inflammatory damage to myocardium and blood vessels, myocardial fibrosis, and cardiac systole and diastole, and thus slow down the onset and progression of DCM.
8.Syndrome Differentiation and Treatment Mechanisms of Hepatic Stellate Cell Activation in Type 2 Diabetes Mellitus Combined with Non-alcoholic Fatty Liver Disease Based on Theory of "Gaozhuo"
Yixin XIANG ; Yunfeng YU ; Xiaoyue WANG ; Xiangning HUANG ; Qin XIANG ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(2):253-260
Non-alcoholic fatty liver disease (NAFLD) is one of the most common complications of type 2 diabetes mellitus (T2DM), and hepatic stellate cell (HSC) activation is the key link in the progression of NAFLD to liver fibrosis. According to the theory of "Gaozhuo", spleen deficiency and Qi stagnation, along with Gaozhuo invasion, are the causes of NAFLD progression to liver fibrosis, which reveals the pathogenesis essence of HSC activation in traditional Chinese medicine (TCM). Among them, spleen deficiency and Qi stagnation are the root causes of the endogenous formation of Gaozhuo. Spleen deficiency indicates the insulin sensitivity decrease and glucose metabolism disorders, and Qi stagnation means the dysregulation of hepatic glucose and lipid metabolism, which creates the preconditions for HSC activation. Gaozhuo invasion is the direct cause of HSC activation, including three stages: Internal retention of Gaozhuo, turbidity and stasis stagnation, and toxic stasis and consolidation. Internal retention of Gaozhuo refers to the abnormal metabolism and deposition of hepatic lipids, as well as the microcirculatory disorders. Turbidity and stasis stagnation is the process by which lipotoxicity stimulates the transformation of HSC into myofibroblast (MFB), and toxic stasis and consolidation represent the secretion of a large amount of extracellular matrix (ECM) by MFB to promote the fibrosis. According to the theory of Gaozhuo and the activation process of HSC, syndromes for T2DM combined with NAFLD can be classified into spleen deficiency and Qi stagnation with internal retention of Gaozhuo, spleen Qi deficiency with turbidity and stasis stagnation, and spleen Qi deficiency with toxic stasis and consolidation. Clinically, the treatment principle is to strengthen the spleen and promote Qi, resolve turbidity, and eliminate blood stasis. Both TCM compounds and monomers can effectively inhibit the HSC activation. TCM compounds can be classified into categories for regulating spleen and harmonizing liver, resolving turbidity and removing stasis, and detoxifying and removing stasis. They mainly work by improving lipid metabolism, reducing lipid accumulation in the liver, alleviating inflammatory and oxidative stress responses, inhibiting the activation and proliferation of HSC, and reducing ECM deposition, thereby delaying the progression of liver fibrosis.
9.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.
10.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.

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