1.Analysis of the Burden of Acute Lymphoid Leukemia in China and Globally from 1990 to 2021
Derong LIN ; Jingya FANG ; Yue LI ; Xiaohua XIE ; Xiaolin YE ; Xiaowen ZHANG ; Jiexuan LI ; Aiguo XUE
Medical Journal of Peking Union Medical College Hospital 2026;17(2):463-475
To analyze the disease burden of acute lymphoid leukemia(ALL) and its changing trends in China and globally from 1990 to 2021, aiming to provide a theoretical basis for disease prevention, treatment, and policy formulation. Data on the incidence, prevalence, mortality, and disability adjusted life years(DALYs) of ALL in China and globally from 1990 to 2021 were extracted from the Global Burden of Disease(GBD) 2021 database. The Joinpoint regression model was used to calculate the average annual percentage change(AAPC) to assess the trends in disease burden. Decomposition analysis was employed to identify and quantify the contributions of different factors to the changes in ALL disease burden. The population attributable fraction(PAF) was used to compare the risk factors for ALL in China and globally in 1990 and 2021. Stratified by the sociodemographic index(SDI), the locally estimated scatterplot smoothing(LOESS) method was used to assess the association between age-standardized incidence rate(ASIR), age-standardized mortality rate(ASMR), and SDI. The incidence-mortality ratio(IMR) was calculated to evaluate the diagnostic level and current treatment status of ALL. From 1990 to 2021, ASIR of ALL in the Chinese population increased from 3.385/100 000 to 3.637/100 000(AAPC: 0.005), the age-standardized prevalence rate(ASPR) increased from 6.596/100 000 to 22.022/100 000(AAPC: 0.478), the ASMR decreased from 3.051/100 000 to 1.357/100 000(AAPC: -0.056), and the age-standardized DALYs rate(ASDR) decreased from 195.792/100 000 to 74.063/100 000(AAPC: -3.996). Globally, the corresponding figures were: ASIR decreased from 1.789/100 000 to 1.371/100 000(AAPC: -0.014), ASPR increased from 4.122/100 000 to 5.425/100 000(AAPC: 0.039), ASMR decreased from 1.551/100 000 to 0.898/100 000(AAPC: -0.021), and ASDR decreased from 94.894/100 000 to 48.858/100 000(AAPC: -1.494). During this period, the aforementioned disease burden indicators were generally higher in males than in females, both in China and globally.In 2021, the peak incidence of ALL in China and globally was primarily concentrated in the 0-19 years age group, with the highest rate observed in those under 5 years of age. The burden of prevalence and DALYs was also mainly concentrated in this age group. Regarding mortality, the death burden in China was predominantly observed in the older adult age group, particularly among those aged ≥60 years. Globally, the mortality burden was highest in the under-5 age group, while remaining at a relatively high level in the older adult population. SDI correlation analysis based on data from 204 countries/regions globally from 1990 to 2021 showed that ASIR gradually increased with increasing SDI, whereas ASMR showed an initial increase followed by a decreasing trend. The ASIR and ASMR for the overall Chinese population and by sex were higher than expected. PAF results indicated that smoking and high body mass index were the main attributable risk factors for ALL mortality and DALYs burden, with their contribution consistently increasing. Decomposition analysis revealed that population growth and epidemiological changes were the primary drivers behind the changes in ALL incidence and mortality burden. Compared with 1990, the IMR for ALL in both China and globally increased in 2021. Over the past three decades, the ASMR and ASDR for ALL in China and globally have generally declined. During the same period, the ASIR and ASPR for ALL increased in China, while globally, the ASIR decreased and the ASPR increased. However, the disease burden of ALL remains high in males, children, and the older adult population. Differentiated prevention and control measures should be implemented in accordance with changes in SDI. The findings highlight the importance of strengthening prevention and early diagnosis, and suggest the need for targeted screening and treatment strategies for different age and sex groups. Concurrently, attention should be paid to the role of weight management and tobacco control in comprehensive prevention and control efforts to further reduce the disease burden of ALL.
2.Quality control of Sagina japonica by HPLC fingerprint combined with quantitative analysis of multi-components by single-marker
Junhong LIU ; Xue LI ; Meiqin ZHANG ; Han HU ; Chunmei BAI ; Chunhua LIU ; Yongjun LI
China Pharmacy 2026;37(7):883-888
OBJECTIVE To establish the high-performance liquid chromatography (HPLC) fingerprint of Sagina japonica , and to establish a quantitative analysis of multi-components by single-marker (QAMS) method for simultaneous determination of six componen ts in S. japonica , aiming to provide references for the quality control of this medicinal herb. METHODS HPLC method was used to establish the fingerprints of 12 batches (No. S1-S12) of S . japonica according to Similarity Evaluation System of Chromatographic Fingerprint of Traditional Chinese Medicine . The similarity evaluation and identification of common peaks were conducted, followed by cluster analysis (CA) and principal component analysis (PCA) for 12 batches of samples. Using vicenin-2 as internal reference, the contents of p-hydroxy cinnamic acid, apigenin-6-C-arabinoside-8-C-glucoside, isoorientin, vitexin and 20-hydroxyecdysone were determined by QAMS method. The results were then compared with those obtained by the external standard method. RESULTS The similarities of HPLC fingerprints for 12 batches of S . japonica ranged from 0.828-0.998. A total of 17 common peaks were calibrated, and 6 common peaks were identified. Specifically, peak 5 was identified as vicenin-2, peak 7 as p-hydroxycinnamic acid, peak 10 as apigenin-6-C-arabinoside-8-C-glucoside, peak 11 as isoorientin, peak 13 as vitexin, and peak 15 as 20-hydroxyecdysone. The results of CA showed that S1-S5, S7 and S9-S11 were clustered into one category, S6 was clustered into one category, and S8 and S12 were clustered into one category. The results of PCA revealed that the accumulative contribution rate of the four main components was 89.430%. The content ranges measured by QAMS method for p-hydroxy cinnamic acid, apigenin-6-C-arabinoside-8-C-glucoside, isoorientin, vitexin and 20-hydroxyecdysone were 0.017 4-0.269 4, 0.568 8-4.240 3, 0.503 2-5.040 3, 0.024 0-0.132 0 and 2.551 3-4.881 1 mg/g, respectively. There was no significant difference in the contents of components measured between QAMS method and the external standard method ( P >0.05). CONCLUSIONS The established HPLC fingerprint and QAMS method can be used for quality evaluation and quality control of S . japonica.
3.Quantitative Molecular Detection of Angelicae Sinensis Radix and Its Processed Products Based on Herb-Q Method
Mingyu ZHANG ; Wenjun JIANG ; Baoyu JI ; Yue WANG ; Haitao ZHANG ; Haobo ZHANG ; Xue FENG ; Xiwen LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):192-200
ObjectiveAngelicae Sinensis Radix, a commonly used medicinal herb with both medicinal and edible properties, is frequently adulterated in the market, severely affecting the clinical efficacy of preparations. While qualitative identification techniques for adulterants and counterfeits are now relatively mature, quantitative detection methods for adulterated processed products remain unexplored. Quantitative detection research of Angelicae Sinensis Radix and its primary closely related adulterant, "Tu Danggui" (Angelica gigas), was conducted to establish a herbal quantitative molecular detection (Herb-Q) method for Angelicae Sinensis Radix and its processed products, providing a model for the establishment of quantitative detection technologies for Angelicae Sinensis Radix and related health products. MethodsThe specific single-nucleotide polymorphism (SNP) loci of Angelicae Sinensis Radix and Angelica gigas Nakai were screened based on the complete chloroplast genome sequence. The specific SNP loci of Angelicae Sinensis Radix were selected for quantitative methodological investigations (linearity, limit of quantification, limit of detection, and reproducibility) by mixing the powder of the herbs with different adulteration ratios. Huoxue Zhitong powder with three distinct adulteration ratios (15%, 25%, and 35%) was utilized to ascertain the precision of the Herb-Q method for the quantitative detection of Chinese patent medicines containing Angelicae Sinensis Radix. ResultsBy comparing the 123 chloroplast genome sequences of Angelicae Sinensis Radix, based on the principles of intraspecies conservation, interspecies specificity, and meeting the requirements of pyrophosphate high-throughput sequencing, it was determined that 9 674th locus (A/G) in the chloroplast genome sequence NC_042826.1 and 38 592nd locus (T/C) in the chloroplast genome sequence NC_029393.1 could be the exclusive molecular identification loci of Angelicae Sinensis Radix and Angelica gigas Nakai, respectively. The linear relationship R2 of the Herb-Q method established by selecting the specific 9 674th locus (A/G) of Angelicae Sinensis Radix was 0.997 4 (R2>0.99), indicating an excellent linear relationship. The limits of quantification and detection were established at 2.0%, exhibiting excellent reproducibility [relative standard deviation(RSD)<2.0%]. The established quantitative system based on the Herb-Q method detected the adulteration amount of counterfeit A. gigas in the Huoxue Zhitong powder, with an average deviation of 1.3% for three molecular quantitative replicates. ConclusionThis research demonstrates that the Herb-Q quantitative detection method established based on the 9 674th locus (A/G) in the chloroplast genome sequence NC_042826.1 of Angelicae Sinensis Radix has good applicability, objectivity, and accuracy for Angelicae Sinensis Radix and A. gigas, and its processed products. This method has the capacity to provide technical support for the quantitative detection of commercially available Angelicae Sinensis Radix derivatives, including traditional Chinese medicinal preparations, dietary supplements, and nutraceuticals.
4.Quantitative Molecular Detection of Angelicae Sinensis Radix and Its Processed Products Based on Herb-Q Method
Mingyu ZHANG ; Wenjun JIANG ; Baoyu JI ; Yue WANG ; Haitao ZHANG ; Haobo ZHANG ; Xue FENG ; Xiwen LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):192-200
ObjectiveAngelicae Sinensis Radix, a commonly used medicinal herb with both medicinal and edible properties, is frequently adulterated in the market, severely affecting the clinical efficacy of preparations. While qualitative identification techniques for adulterants and counterfeits are now relatively mature, quantitative detection methods for adulterated processed products remain unexplored. Quantitative detection research of Angelicae Sinensis Radix and its primary closely related adulterant, "Tu Danggui" (Angelica gigas), was conducted to establish a herbal quantitative molecular detection (Herb-Q) method for Angelicae Sinensis Radix and its processed products, providing a model for the establishment of quantitative detection technologies for Angelicae Sinensis Radix and related health products. MethodsThe specific single-nucleotide polymorphism (SNP) loci of Angelicae Sinensis Radix and Angelica gigas Nakai were screened based on the complete chloroplast genome sequence. The specific SNP loci of Angelicae Sinensis Radix were selected for quantitative methodological investigations (linearity, limit of quantification, limit of detection, and reproducibility) by mixing the powder of the herbs with different adulteration ratios. Huoxue Zhitong powder with three distinct adulteration ratios (15%, 25%, and 35%) was utilized to ascertain the precision of the Herb-Q method for the quantitative detection of Chinese patent medicines containing Angelicae Sinensis Radix. ResultsBy comparing the 123 chloroplast genome sequences of Angelicae Sinensis Radix, based on the principles of intraspecies conservation, interspecies specificity, and meeting the requirements of pyrophosphate high-throughput sequencing, it was determined that 9 674th locus (A/G) in the chloroplast genome sequence NC_042826.1 and 38 592nd locus (T/C) in the chloroplast genome sequence NC_029393.1 could be the exclusive molecular identification loci of Angelicae Sinensis Radix and Angelica gigas Nakai, respectively. The linear relationship R2 of the Herb-Q method established by selecting the specific 9 674th locus (A/G) of Angelicae Sinensis Radix was 0.997 4 (R2>0.99), indicating an excellent linear relationship. The limits of quantification and detection were established at 2.0%, exhibiting excellent reproducibility [relative standard deviation(RSD)<2.0%]. The established quantitative system based on the Herb-Q method detected the adulteration amount of counterfeit A. gigas in the Huoxue Zhitong powder, with an average deviation of 1.3% for three molecular quantitative replicates. ConclusionThis research demonstrates that the Herb-Q quantitative detection method established based on the 9 674th locus (A/G) in the chloroplast genome sequence NC_042826.1 of Angelicae Sinensis Radix has good applicability, objectivity, and accuracy for Angelicae Sinensis Radix and A. gigas, and its processed products. This method has the capacity to provide technical support for the quantitative detection of commercially available Angelicae Sinensis Radix derivatives, including traditional Chinese medicinal preparations, dietary supplements, and nutraceuticals.
5.Clinical and genetic analysis of children with Silver-Russell syndrome.
Liming ZHANG ; Guimei PAN ; Dongxia FU ; Xue WU ; Yongxing CHEN
Chinese Journal of Medical Genetics 2026;43(4):259-264
OBJECTIVE:
To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease.
METHODS:
A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025.
RESULTS:
The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene.
CONCLUSION
SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans
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Silver-Russell Syndrome/diagnosis*
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Male
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Female
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Child
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Child, Preschool
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Infant
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Adolescent
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Retrospective Studies
6.Prognostic significance of TRIM28 elevation in non-M3 acute myeloid leukemia
Siqi GONG ; Cong LI ; Mengmeng FAN ; Huiping WANG ; Wanqiu ZHANG ; Xue LIANG ; Qianshan TAO ; Qiang HONG ; Zhimin ZHAI
Acta Universitatis Medicinalis Anhui 2026;61(2):301-308
ObjectiveTo clarify the expression of TRIM28 in non-M3 acute myeloid leukemia (AML) and its correlation with clinical indicators and prognosis, and to further explore the effect of TRIM28 expression levels on the proliferation and apoptosis of AML cells using small interfering RNA. MethodsThe GSE34577 dataset was analyzed using R software to compare TRIM28 expression between healthy controls and non-M3 acute myeloid leukemia (AML) patients. Clinical samples from non-M3 AML patients were collected, with TRIM28 expression levels measured using real-time quantitative PCR (qPCR). The analysis focused on correlations between TRIM28 expression and various clinical indicators, treatment efficacy, and patient prognosis. Furthermore, small interfering RNA (siRNA) technology was employed to downregulate TRIM28 expression in human primary AML cells (HL60 cell line). The effects on cell proliferation and apoptosis were then assessed through CCK-8 assays and flow cytometry, respectively. ResultsThe results showed that TRIM28 was up-regulated in non-M3 AML of both online database GSE34577 and clinical samples (P<0.000 1), TRIM28 expression of new diagnosis group and relapsed refractory group was higher than iron deficiency anemia group (P<0.01), and there was no significance between different French-American-British classification systems subtype. TRIM28 expression was higher in non-M3 AML patients with a poor genetic prognosis stratified as moderate than in the good prognosis group, and TRIM28 expression was associated with NPM1 combined with the FLT3-ITD mutation, positively correlated with age, bone marrow blast, peripheral blood blast and white blood cell, negatively correlated with hemoglobin. In addition, interference TRIM28 greatly inhibited cell proliferation and promoted cell apoptosis. ConclusionThis study reveals that TRIM28 is highly expressed in non-M3 AML and associated with prognosis, and plays a key role in the proliferation and apoptosis of AML cells, suggesting that TRIM28 may serve as a novel therapeutic target for non-M3 AML.
7.Ameliorative effects and mechanisms of Buyang huanwu decoction and its active fractions on non-alcoholic fatty liver disease
Jinbiao YANG ; Xingtong CHEN ; Yunyue ZHOU ; Ruihong YANG ; Qiao WANG ; Shuang XUE ; Yukun ZHANG ; Wenying NIU
China Pharmacy 2026;37(3):299-304
OBJECTIVE To investigate the effects and mechanisms of Buyang huanwu decoction (BYHWD) and its active fractions in ameliorating non-alcoholic fatty liver disease. METHODS BYHWD and its effective fractions obtained through ethanol precipitation, as well as 30% ethanol, 50% ethanol, and 75% ethanol fractions (namely, the CC effective fraction, 30YC effective fraction, 50YC effective fraction, and 75YC effective fraction), were prepared. These preparations were administered to rats via intragastric administration to prepare corresponding drug-containing serum (blank serum and simvastatin-containing serum were prepared using the same protocol). Human L02 hepatocytes were divided into control group, model group, simvastatin-containing serum group, BYHWD-containing serum group, CC-containing serum group, 30YC-containing serum group, 50YC-containing serum group, and 75YC-containing serum group. Except for the control group, other groups were given 0.2 mol/L oleic acid for 24 h to induce a lipid accumulation model, and then intervened with 20% drug-containing serum/blank serum for 24 h. The lipid deposition in cells was observed, and the proportion of lipid droplet area was calculated; the levels of triglycerides (TG) and indicators of oxidative stress [malondialdehyde (MDA), superoxide dismutase (SOD)] as well as liver function [alanine amino- transferase (ALT), aspartate amino-transferase (AST)] in cells were detected; protein and mRNA expressions of AMP-activated protein kinase (AMPK)/sterol regulatory element-binding protein-1 (SREBP-1)/glycerol-3-phosphate acyltransferase (GPAT) signaling pathway were also measured. RESULTS Compared with the control group, cells in the model group exhibited severe cellular steatosis, with a significantly increased proportion of lipid droplet area, as well as the elevated levels of TG, ALT, AST, and MDA in cells, along with significantly up-regulated mRNA and protein expression levels of SREBP-1 and GPAT (P<0.05). The level of SOD, mRNA expression of AMPK, as well as the protein phosphorylation level of AMPK were decreased significantly (P<0.05). Compared with the model group, cellular steatosis was alleviated in all drug-containing serum groups, and the levels of most of the aforementioned quantitative indicators were significantly reversed (P<0.05). CONCLUSIONS BYHWD and its active fractions can exert a therapeutic effect on improving non-alcoholic fatty liver disease by regulating the AMPK/SREBP-1/GPAT signaling pathway, inhibiting oxidative stress responses, and reducing lipid deposition.
8.Association of different surrogate indicators of insulin resistance with diabetic retinopathy
Xue HUANG ; Peng ZHAO ; Juan ZHANG ; Yaxin ZHAO
International Eye Science 2026;26(3):499-505
AIM:To investigate the associations of triglyceride glucose(TyG)index, triglyceride glucose-body mass index(TyG-BMI), and homeostatic model assessment of insulin resistance(HOMA-IR)with diabetic retinopathy(DR), and to evaluate their diagnostic value.METHODS: This study was a single-center retrospective study. Patients with type 2 diabetes mellitus(T2DM)who were hospitalized in the endocrinology department of 3201 Hospital from January 1, 2023 to March 1, 2025 were included. According to the diagnostic criteria for DR, participants were classified into DR group and non-DR(NDR)group. Then the association of TyG index, TyG-BMI, and HOMA-IR index with DR of the two groups of patients were alalyzed.RESULTS:A total of 969 patients with T2DM were enrolled in this study, including 816 patients in the DR group. Among DR group, 271 were males(33.2%)and 545 were females(66.8%), with a mean age of 56.78±11.88 years. The NDR group consisted of 153 patients, including 41 males(26.8%)and 112 females(73.2%), with a mean age of 59.40±10.52 years. Statistically significant differences were observed between the DR group and the NDR group in terms of age, BMI, TyG index, TyG-BMI, HOMA-IR index, fasting blood glucose(FBG), 2-h postprandial blood glucose(2 hPBG), fasting insulin(FINS), 2-h postprandial insulin(2 hPINS), fasting C-peptide(FCP), 2-h postprandial C-peptide(2 hPCP), total cholesterol(CHO), triglyceride(TG), low-density lipoprotein(LDL-C), blood urea nitrogen(BUN), uric acid(UA), direct bilirubin(DBIL), glycated hemoglobin(HbA1c), milligrams per total protein(M-TP), microalbuminuria(MALB), urinary albumin to creatinine ratio(UACR), 24-hour urine protein, white blood cell(WBC), neutrophil(N), and platelets(PLT; all P<0.05), while no significant differences were found in the remaining indicators(all P>0.05). In multivariable Logistic regression, both TyG index(aOR=198.65, 95% CI: 66.73-591.41, P<0.001)and TyG-BMI(aOR=1.03, 95% CI: 1.02-1.04, P<0.001)remained independently positive associated with DR. Quartile analysis indicated a progressive increase in DR risk with ascending quartiles of TyG index and TyG-BMI(all Ptrend<0.001). In contrast, HOMA-IR was not significantly associated with DR. Restricted cubic spline analysis, fully adjusted for confounders, showed a nonlinear upward trend in DR risk with increasing TyG index(Pnonlinearity<0.001), whereas TyG-BMI exhibited a U-shaped association(Pnonlinearity<0.05). No significant association was found between HOMA-IR and DR after propensity score matching. Receiver operating characteristic(ROC)curve demonstrated area under curve(AUC)values of 0.870(95% CI: 0.839-0.901)for TyG index, 0.710(95% CI: 0.665-0.755)for TyG-BMI, and 0.657(95% CI: 0.608-0.706)for HOMA-IR.CONCLUSION:The TyG index and TyG-BMI are risk factors for DR. A dose-dependent increase in DR risk was associated with elevated TyG index values. TyG-BMI exhibited an inverted U-shaped relationship with DR risk. The TyG index had better diagnostic efficiency for DR compared to both TyG-BMI and HOMA-IR index.
9.Research advances in methods for personal dose monitoring in interventional radiology
Xuanrong ZHANG ; Wen GUO ; Xian XUE ; Yanqiu DING
Chinese Journal of Radiological Health 2026;35(1):141-147
This paper primarily reviews the current research status of passive and active monitoring methods for interventional radiology personnel, encompassing the types and wearing positions of personal dosimeters, simulation results versus measured outcomes, and discrepancies between different simulation results. By reviewing domestic and international literature, it lists effective dose estimation formulas for single- and dual-dosimeter systems developed by various researchers worldwide. Recommendations are proposed based on the current dosimeter wearing practices among interventional radiology staff, providing reference for the formulation of relevant standards.
10.Identification and Analysis of bHLH Genes Related to Color Formation of Gastrodia elata Stem
Xue JIANG ; Dandan RAN ; Xiuwen WANG ; Xiaobo ZHANG ; Xiaohong OU ; Jie PAN ; Tao ZHOU ; Zhen OUYANG ; Jiao XU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):202-209
ObjectiveGastrodia elata has evolved ecological types with shortened rhizome internodes and diversified flower and fruit coloration in response to different altitudes. Studying the genetic mechanisms of different ecotype germplasm is significant for guiding variety breeding in different cultivation areas. MethodsThe bHLH gene family was identified based on the whole-genome datasets of G. elata f. elata and G. elata f. glauca. Subsequently, the gene family members were subject to analysis, including gene structure, chromosomal localization, cis-acting elements, gene synteny, and phylogeny. Combined with transcriptome data and quantitative Real-time PCR, the expression patterns of bHLH genes in the stems of the different G. elata ecotype germplasm were analyzed. Finally, correlation analysis was conducted between gene expression patterns and color to obtain the key bHLH genes regulating the color formation of stem. ResultsA total of 63 bHLH genes were identified in both G elata f. elata and G. elata f. glauca, unevenly distributed across 17 chromosomes and clustered into 16 subfamilies, with significant expansion in some family members. Obvious inversions of bHLH genes on the same chromosome and interchromosomal translocations were detected in the two ecotype germplasm. Among these genes, 12 bHLH genes (such as bHLH62-3 and bHLH74) were associated with the bright yellow color of G elata f. elata stem, while 9 bHLH genes (such as PIL13, UNE12, and bHLH130) were correlated with the red color of G. elata f. glauca stem. Compared to G. elata f. glauca, the bHLH48 expression level was significantly higher in flowers and scale leaves of G elata f. elata, and the bHLH62-3 expression level was significantly higher in all organs of G elata f. elata. ConclusionsFunctional pathway divergence of the bHLH family members has occurred across different chromosomes in G elata f. elata and G. elata f. glauca. Through synergism or antagonism with other genes, 21 bHLH genes participate in the coloration metabolic pathway regulation of stems, flowers, and fruits. Specifically, bHLH62-3 is involved in regulating stem color differentiation in the anthocyanin biosynthesis pathway of G. elata, thus relevant to the color formation of stem. Additionally, GebHLH48 positively regulates flowering-related pathways to promote the early-flowering phenotype of G. elata f. elata. These findings have laid the foundation for analyzing the genetic regulatory mechanisms underlying the color formation of the G. elata stem.

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