SRF-rearranged cellular perivascular myoid tumor: a clinicopathological analysis of two cases / 中华病理学杂志

Objective: To investigate the clinicopathological features, immunophenotype, diagnosis and differential diagnosis of SRF-rearranged cellular perivascular myoid tumor. Methods: Two cases of SRF-rearranged cellular perivascular myoid tumor diagnosed in the Department of Pathology, Fudan University Shanghai Cancer Center from October 2021 to March 2022 were collected. Immunohistochemical staining, fluorescence in-situ hybridization (FISH) and next-generation sequencing (NGS) were performed, and the literature was reviewed. Results: Case 1, a 3-month-old boy presented with a painless tumor of the scalp, measuring about 2 cm in diameter. Case 2, a 3-year-old girl complained with a painless tumor of the knee, measuring approximately 1.5 cm in diameter. Microscopically, the tumor had a clear boundary and showed multinodular growth. The tumor was mainly composed of spindle cells arranged in long intersecting fascicles associated with thin, slit-like or branching ectatic vessels, focally forming hemangiopericytoma-like appearance. The tumor cells were abundant, but there was no obvious atypia. Mitotic figures (3-4/10 HPF) were noted. H-caldesmon and SMA were positive in both cases. Case 1 showed diffuse and strong positivity for Desmin, and focally for CKpan. Ki-67 proliferation index was 20% and 30%, respectively. FISH displayed NCOA2 gene translocation in case 1 and the RELA gene translocation in case 2. NGS detected the SRF-NCOA2 gene fusion in case 1 and the SRF-RELA gene fusion in case 2. Both patients underwent local excisions. During the follow-up of 5-14 months, case 1 had no local recurrence, while case 2 developed local recurrence 1 year post operatively. Conclusions: SRF-rearranged cellular perivascular myoid tumor is a novel variant of perivascular cell tumor, which tends to occur in children and adolescents. The tumor forms a broad morphologic spectrum ranging from a pericytic pattern to a myoid pattern, and include hybrid tumors with a mixture of pericytic and myoid patterns. Due to its diffuse hypercellularity and increased mitotic figures and smooth muscle-like immunophenotype, the tumor is easy to be misdiagnosed as myogenic sarcomas. The tumor usually pursues a benign clinical course and rare cases may locally recur.

Restoration of Brain Acid Soluble Protein 1 Inhibits Proliferation and Migration of Thyroid Cancer Cells / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Brain acid soluble protein 1 (BASP1) is identified as a novel potential tumor suppressor in several cancers. However, its role in thyroid cancer has not been investigated yet. In the present study, the antitumor activities of BASP1 against the growth and migration of thyroid cancer cells were evaluated.</p><p><b>METHODS</b>BASP1 expression in thyroid cancer tissues and normal tissues were examined by immunohistochemical staining and the association between its expression and prognosis was analyzed. pcDNA-BASP1 carrying full length of BASP1 cDNA was constructed to restore the expression of BASP1 in thyroid cancer cell lines (BHT-101 and KMH-2). The cell proliferation in vitro and in vivo was evaluated by WST-1 assay and xenograft tumor models, respectively. Cell cycle distribution after transfection was analyzed using flow cytometry. Cell apoptosis after transfection was examined by annexin V/propidium iodide assay. The migration was examined using transwell assay.</p><p><b>RESULTS</b>BASP1 expression was abundant in normal tissues while it is significantly decreased in cancer tissues (P = 0.000). pcDNA-BASP1 restored the expression of BASP1 and significantly inhibited the growth of BHT-101 and KMH-2 cells as well as xenograft tumors in nude mice (P = 0.000). pcDNA-BASP1 induced G1 arrest and apoptosis in BHT-101 and KMH-2 cells. In addition, pcDNA-BASP1 significantly inhibited the cell migration.</p><p><b>CONCLUSIONS</b>Downregulation of BASP1 expression may play a role in the tumorigenesis of thyroid cancer. Restoration of BASP1 expression exerted extensive antitumor activities against growth and migration of thyroid cancer cells, which suggested that BASP1 gene might act as a potential therapeutic agent for the treatment of thyroid cancer.</p>

Nodular Fasciitis of External Auditory Canal

Nodular fasciitis is a pseudosarcomatous reactive process composed of fibroblasts and myofibroblasts, and it is most common in the upper extremities. Nodular fasciitis of the external auditory canal is rare. To the best of our knowledge, less than 20 cases have been reported to date. We present a case of nodular fasciitis arising in the cartilaginous part of the external auditory canal. A 19-year-old man complained of an auricular mass with pruritus. Computed tomography showed a 1.7 cm sized soft tissue mass in the right external auditory canal, and total excision was performed. Histologic examination revealed spindle or stellate cells proliferation in a fascicular and storiform pattern. Lymphoid cells and erythrocytes were intermixed with tumor cells. The stroma was myxoid to hyalinized with a few microcysts. The tumor cells were immunoreactive for smooth muscle actin, but not for desmin, caldesmon, CD34, S-100, anaplastic lymphoma kinase, and cytokeratin. The patient has been doing well during the 1 year follow-up period.

Asociación y efectos de interacción en los genes AGT , AGTR1 , ACE , ADRB2 , DRD1 , ADD1, ADD2, ATP2B1, TBXA2R y PTGS2 sobre la hipertensión en la población antioqueña / Association and interaction of AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R and PTGS2 genes on the risk of hypertension in Antioquian population

Introducción. La hipertensión arterial es una enfermedad multifactorial influenciada por componentes genéticos y ambientales, cuya prevalencia varía entre grupos étnicos. Se han llevado a cabo numerosos estudios en genes de sistemas reguladores de la presión arterial, como el sistema renina-angiotensinaaldosterona, el sistema nervioso simpático, los factores endoteliales, y el balance de sodio, mostrando resultados incongruentes entre poblaciones. Objetivos. Evaluar el efecto de variantes en los genes AGT , AGTR1 , ACE , ADRB2 , DRD1 , ADD1 , ADD2 , ATP2B1 , TBXA2R y PTGS2 y del componente ancestral individual, sobre la hipertensión arterial y las cifras de presión arterial en una muestra de población antioqueña. Materiales y métodos. Se genotipificaron 107 casos y 253 controles para 12 variantes en los genes AGT , AGTR1 , ACE , ADRB2 , DRD1 , ADD1 , ADD2 , ATP2B1 , TBXA2R y PTGS2 , y para 20 marcadores informativos de ascendencia. Se evaluó la asociación de los polimorfismos y sus interacciones, y de la composición genética ancestral con hipertensión y cifras de presión arterial. Resultados. Los genes ADD2 , rs4852706 (OR=3,0; p=0,023); DRD1 , rs686 (OR=0,38; p=0,012) y ADRB2 , rs1042718 (OR=10,0; p=0,008); y combinaciones genotípicas de DRD1 con AGTR1 ; de AGT con ADD1 ; y de ADD1 con ATP2B1 y PTGS2 , se asociaron con hipertensión arterial. El componente ancestral amerindio se asoció con disminución en la presión arterial diastólica. Conclusiones. Variantes en los genes ADD2 , DRD1 , ADRB2 , AGTR1 , AGT , ADD1 , ATP2B1 y PTGS2 , individualmente o en su interacción, se encuentran asociadas con hipertensión. El componente ancestral amerindio tiene un efecto sobre las cifras de presión arterial.

Introduction: Hypertension is a multifactorial disease influenced by genetic and environmental components, with its prevalence varying across ethnic groups. Manifold studies on blood pressure regulatory system genes have been carried out -such as the renin-angiotensin-aldosterone system, the sympathetic nervous system, endothelial factor, and sodium balance-, but the results yielded were inconsistent among populations. Objectives: To evaluate the effect of both variants in genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R PTGS2, and the result of the individual ancestry component on hypertension and blood pressure levels among population in Antioquia. Methods and materials: 107 cases and 253 controls were genotyped for 12 variants on genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2, and for 20 ancestry informative markers. The association of polymorphisms and their interactions, and the association of ancestral genetic composition with hypertension and blood pressure levels were examined. Results: Genes ADD2, rs4852706 (OR=3.0; p=0.023); DRD1, rs686 (OR=0.38; p=0.012) and ADRB2, rs1042718 (OR=10.0; p=0.008); as well as genotypic combinations of DRD1 and AGTR1; AGT and ADD1; and ADD1 to ATP2B1 and PTGS2 were associated to hypertension. The Amerindian ancestry component was associated to some decrease in diastolic blood pressure. Conclusion: Variants on genes ADD2, DRD1, ADRB2, AGTR1, AGT, ADD1, ATP2B1 and PTGS2 individually or interacting, are associated to hypertension. The Amerindian ancestry component has an effect on blood pressure.

Solid variant of angiomatoid fibrous histocytoma:report of 3 cases / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the clinicopathologic features, immunophenotype, molecular genetics and differential diagnosis of solid variant of angiomatoid fibrous histocytoma.</p><p><b>METHODS</b>The clinicopathologic features of 3 cases of solid variant of angiomatoid fibrous histocytoma were analyzed and the literature was reviewed.</p><p><b>RESULTS</b>There were a total of 2 males and 1 female. The age of patients ranged from 9 to 12 years. The patients presented with a painless mass located in left forearm, left knee or back. The lesions were treated by complete surgical resection. On gross examination, the tumors varied from 1.6 cm to 4.5 cm in greatest dimension. They were well-circumscribed and had pale yellow to grayish-red solid cut surface. Histologically, the tumor was composed of histocytoid cells arranged in sheet-like pattern. A fibrous pseudocapsule surrounded by lymphocytes and plasma cells was identified. Immunohistochemical study showed that the tumor cells in all cases were positive for vimentin and CD68. They were negative for S100 protein, cytokeratin, CD34, CD31, smooth muscle actin, CD35, CD21 and CD30. Two cases also expressed CD99 and one of them was positive for desmin and epithelial membrane antigen. Fluorescence in-situ hybridization was positive for EWSR1 gene.</p><p><b>CONCLUSIONS</b>Solid type represents a variant of angiomatoid fibrous histocytoma and is considered as tumor of borderline malignant potential. Definitive diagnosis requires thorough histologic examination and clinical correlation. Immunohistochemistry and EWSR1 gene study are helpful in further delineation and differential diagnosis. Complete resection or wide local excision with post-operative follow up is the main modality of treatment.</p>

A missense SNP in the codon of ADD1 phosphorylation site associated with non-cardia gastric cancer susceptibility in a Chinese population / 中华肿瘤杂志

<p><b>OBJECTIVE</b>This study investigated the association between a missense SNP in the codon of ADD1 phosphorylation site and the susceptibility of non-cardia gastric cancer in a Chinese population.</p><p><b>METHODS</b>PhosphoSitePlus and dbSNP database were combined to discover missense SNPs in the codon of phosphorylation site. Then, we genotyped the missense SNP in 1, 998 cases with non-cardia gastric cancer and 2, 008 cancer-free controls of Chinese descent. Analysis was conducted by using Logistic model adjusted by gender and age.</p><p><b>RESULTS</b>The rs4963 in the codon of ADD1 phosphorylation site was found. The frequencies of the 3 rs4963 genotypes, CC, CG, GG, among controls were 25.2%, 50.4%, and 24.4%, respectively, among patients were 20.1%, 50.6%, and 29.3%, respectively. Compared with CC genotype, the rs4963 CG genotype and GG genotype significantly increased the risk of non-cardia gastric cancer with the odds ratios being 1.24 (95%CI: 1.06 ∼ 1.46, P = 0.008) and 1.49 (95%CI: 1.25 ∼ 1.78, P < 0.001), respectively.</p><p><b>CONCLUSIONS</b>Fnnctional polymorphism in the phosphorylation site of ADD1 (rs4963) may influence the susceptibility of non-cardia gastric cancer.</p>

Three New Single Nucleotide Polymorphisms Identified by a Genome-Wide Association Study in Korean Patients with Vitiligo

Genetic susceptibility is involved in the pathogenesis of vitiligo. Association studies with a whole genome-based approach instead of a single or a few candidate genes may be useful for discovering new susceptible genes. Although the etiology of non-segmental and segmental types is different, the association between gene polymorphisms and vitiligo has been reported, without defining types or in non-segmental type. Whole genome-based single nucleotide polymorphisms (SNPs) were examined in patients with non-segmental and segmental types of vitiligo using the Affymetrix GeneChip 500K mapping array, and 10 functional classes of significant SNPs were selected. Genotyping and data analysis of selected 10 SNPs was performed using real-time PCR. Genotype and allele frequencies were significantly different between both types of vitiligo and three of the target SNPs, DNAH5 (rs2277046), STRN3 (rs2273171), and KIAA1005 (rs3213758). A stronger association was suggested between the mutation in KIAA1005 (rs3213758) and the segmental type compared to the non-segmental type of vitiligo. DNAH5 (rs2277046), STRN3 (rs2273171), and KIAA1005 (rs3213758) may be new vitiligo-related SNPs in Korean patients, either non-segmental or segmental type.

A Case of Intimal Sarcoma Arising in the Left Common Iliac Artery

Primary tumors of the great vessels are rare. Most encountered cases are sarcomas which most commonly develop in the aorta, pulmonary artery, and inferior vena cava. We experienced an intimal sarcoma arising in the left common iliac artery in a 68-year-old male, who suffered from claudication in his left lower extremity for a year and was diagnosed as arteriosclerosis obliterans, clinically. Bypass surgery was performed on the obstructive lesion. Grossly, the vascular lumen was filled with dark hemorrhagic materials. Microscopically, the lesion showed proliferation of anaplastic spindle cells with a marked nuclear atypia, arranged haphazardly. There were numerous mitotic figures. Foci of cholesterol clefts were also found in the intima. Immunohistochemically, the tumor cells were positive for vimentin, smooth muscle actin, and cytokeratin in certain areas. Stains for CD34, desmin, myosin heavy chain, caldesmon, and S-100 protein were negative. A pathologic diagnosis was made as intimal sarcoma with myofibroblastic differentiation.

Leiomyosarcoma with prominent osteoclast-like giant cells: a clinicopathologic analysis of 7 cases and review of literature / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the clinicopathologic features of leiomyosarcoma with prominent osteoclast-like giant cells.</p><p><b>METHODS</b>The clinical and pathologic features of 7 cases of leiomyosarcoma with prominent osteoclast-like giant cells were analyzed. Immunohistochemical and ultrastructural studies were performed. The literature was reviewed.</p><p><b>RESULTS</b>All cases occurred in adults, with a mean age of 63 years. There was no significant sex predilection (male-to-female ratio = 4:3). The tumor involved subcutaneous soft tissue of thigh (number = 2), left back (number = 1), retroperitoneum (number = 1), small intestine (number = 1), breast (number = 1) and uterus (number = 1). Histologic examination showed that the tumor was composed of relatively uniform spindly cells arranged in interlacing fascicles. The hallmark was the presence of prominent osteoclast-like giant cells, either intimately admixed with the spindly cells (number = 6) or forming giant cell tumor-like nodules (number = 1). Immunohistochemically, the spindly cells expressed smooth muscle actin, muscle-specific actin, desmin and h-caldesmon in various degrees, whereas the osteoclast-like giant cells expressed CD68. Ultrastructural study showed smooth muscle differentiation in the spindly cells and histiocytic differentiation in the osteoclast-like giant cells. Follow-up data were available in 6 cases. There were local recurrences and/or metastases in all the 6 patients. Three patients were alive with unresectable or recurrent/metastatic disease and two patients died of the disease.</p><p><b>CONCLUSIONS</b>Leiomyosarcoma with prominent osteoclast-like giant cells is a rare variant of leiomyosarcoma which should be distinguished from the so-called giant cell variant of malignant fibrous histiocytoma. The osteoclast-like giant cells are of histiocytic differentiation. Surgical resection remains the mainstay of management of this high-grade sarcoma.</p>

Immunohistochemical analysis for CD21, CD35, Caldesmon and S100 protein on dendritic cells types in oral lymphomas

OBJECTIVE: Follicular dendritic cells (FDCs) and interdigitating dendritic cells (IDCs) are dendritic cells found in lymphoid follicles, reactive follicles and in lymphomas. The goal of this study was to evaluate the presence and distribution of FDCs and IDCs in oral lymphomas. MATERIAL AND METHODS: Immunohistochemistry reactions were applied to 50 oral lymphomas using the antibodies anti-CD21, anti-CD35 and anti-caldesmon to FDCs, and anti-S100 protein to IDCs. Caldesmon+/FDCs and S100+/IDCs were quantified in Imagelab® software. RESULTS: FDCs revealed by CD21 and CD35 were positively stained in two cases of diffuse large B-cell lymphoma, one MALT lymphoma, and in one case of mantle cell lymphoma. FDCs were immunopositive to caldesmon in all cases, as well as IDCs to S100 protein. Burkitt lymphoma presented a lower amount of caldesmon+/FDCs and S100+/IDCs than diffuse large B-cell lymphoma and plasmablastic lymphoma of the oral mucosa type. CONCLUSIONS: The microenvironment determined by neoplastic lymphoid cells in oral lymphomas is responsible by the development and expression of dendritic cells types.

Phosphorylation of Extracellular Signal-Regulated Kinase1/2 and Caldesmon in Rat Colon by Electrical Stimulation to Sacral Plexus Following Spinal Cord Injury

OBJECTIVE: To find out whether electrical stimulation affects intracellular signaling mechanisms that link the biochemical and mechanical events of smooth muscle contraction. METHOD: A total of 31 adult Sprague-Dawley female rats were divided into 3 groups: control group, spinal cord injury (SCI) only group, and spinal cord injury with electrical stimulation (SCI+ES) group. Complete spinal cord transection was performed surgically at T10 cord level. The electrode for electrical stimulation was implanted into sacral spinal cord region (S2-4). Electrical stimulation was applied 4 hours per day from the day of operation. RESULTS: In SCI+ES group, the weights of fecal pellet were significantly higher from the 3rd day of post-operation to the 6th day than the SCI only group. The numbers of pERK 1/2 immunoreactive cells significantly increased in all colon segments of the SCI+ES group but had decreased in the SCI only group. Western blot showed the stronger bands of phosphorylated ERK1/2 in all colon segments and also phosphorylated caldesmon in mid or distal colon segments in the SCI+ES group. CONCLUSION: These results suggest that electrical stimulation to sacral plexus region activate phosphorylation of ERK1/2 and caldesmon which leads to improvement of bowel function by promotion of secretion or motility in the colon.

Association of the polymorphisms of sodium transport related genes with essential hypertension / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the polymorphisms of rs4961 in alpha-adducin (ADD1) and rs28933400 in Na+/K+ -ATPase a2 (ATP1A2) genes, the products of which are important for sodium transport, with essential hypertension.</p><p><b>METHODS</b>Mutagenically separated PCR (MS-PCR) was used to detect the genotypes of the two loci. The subjects were recruited randomly including 196 patients of essential hypertension and 192 healthy controls.</p><p><b>RESULTS</b>The frequencies of genotypes and alleles of in the ADD1 gene were significantly different between the patients and controls respectively (P=0.03, P=0.04). There was significant relationship between the genotypes of rs4961 and systolic blood pressure and blood sodium concentration. However, there was no significant relationship between the rs4961 genotypes and diastolic blood pressure, body mass index, blood kalium and chlorine concentrations. There was no polymorphism at the rs28933400 locus in the subjects analyzed.</p><p><b>CONCLUSION</b>The rs4961 polymorphism of the ADD1 gene is associated with essential hypertension, but the rs28933400 locus in the ATP1A2 gene may have no association with essential hypertension in the studied population.</p>

Association of alpha-adducin and angiotensin converting enzyme gene polymorphisms with salt-sensitive hypertension and early renal injury / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between the alpha-adducin gene G460T, angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphisms and salt-sensitive hypertension and early renal injury in Chinese people.</p><p><b>METHODS</b>The case-control study was performed in 200 essential hypertension (EH) and 200 normal control subjects in China. The 200 EH patients were divided into salt-sensitive(SS= 109) and non-salt-sensitive(NSS= 91) groups according to modified Sullivan's method. The genotypes of alpha-adducin gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The ACE genotypes were determined by PCR. The urine microalbum (Alb) in 200 EH subjects was measured by radioactive immunoassay.</p><p><b>RESULTS</b>(1) A higher frequency of alpha-adducin gene G460T TT in EH patients was observed (P< 0.05). No significant difference of the ACE gene I/D polymorphism was found between the EH patients and normal control (P> 0.05). There were significant differences in the alpha-adducin gene TT genotype and combined genotype of TT+ II between SS and NSS subjects (P< 0.05). (2) The levels of urine Alb/Cr in SS patients were significantly higher than that in NSS patients (P< 0.05); in SS group, the levels of urine Alb/Cr in ACE II and alpha-adducin gene TT genotypes were higher than that in ACE ID, DD genotype and alpha-adducin gene GT and GG genotypes. The levels of urine Alb/Cr in the group of alpha-adducin gene TT+ ACE II combined genotype were higher than that in other combined genotypes (P< 0.05).</p><p><b>CONCLUSION</b>The alpha-adducin gene TT genotype or combined with ACE II are significantly associated with SS hypertension. The alpha-adducin gene TT and ACE II genotypes might be genetic susceptibility factors to hypertension accompanying renal injury.</p>

Primary Pulmonary Ewing's Sarcoma/Primitive Neuroectodermal Tumor in a 67-year-old Man

Extraskeletal Ewing's sarcoma (EES) is a branch of neuroectodermal tumor (PNET), which is very rare soft tissue sarcoma. We report a case of EES/PNET arising is the lung of a 67-yr-old man. Computed tomography, bone scintigraphy, and positron emission tomography confirmed the mass to have a primary pulmonary origin. The mass showed positive reactivity in the Periodic Acid Schiff (PAS) stain and MIC-2 immunoreactivity in immunohistochemical stain. Fluorescence in situ hybridization (FISH) was performed, which revealed an EWSR1 (Ewing sarcoma breakpoint region 1) 22q12 rearrangement. The diagnosis was confirmed both pathologically and genetically. The mass lesion was resected, and the patient is currently undergoing chemotherapy.

A case of perivascular epithelioid cell tumor (PEComa) arising in the colon / 대한내과학회지

Perivascular epithelioid cell tumor (PEComa) is a rare family of related mesenchymal neoplasms that include angiomyolipoma, lymphangiomyomatosis and clear cell 'sugar' tumor of the lung. Although this type of tumor has been described in the literature in organs such as kidney, lung, uterus and urinary bladder, there are few reports of gastrointestinal tract-related tumor. We report here on a case of PEComa arising in the transverse colon. This occurred in a 41-year-old male who had no history of tuberous sclerosis complex. Histopathologically, the tumor consisted of nests or sheets of epithelioid cells with eosinophilic cytoplasm. The tumor cells were positive for HMB-45, vimentin and caldesmon, but they were negative for S-100 protein, cytokeratin and CD117, according to immunohistochemical staining. Careful follow up is warranted because the biological behavior of PEComa has not yet been documented. We present here a case of colonic PEComa that was confirmed by immunohistochemical staining and the histopathologic findings, and we include a review of the literature.

Relationship between the polymorphism of alpha-adducin gene and the two phenotypes of constitutions in patients with essential hypertension classified by TCM / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the polymorphism of alpha-adducin (ADD1) gene and the two phenotypes of constitution in patients with essential hypertension, the Yang-hyperactive (YH) type and phlegm-dampness (PD) type, classified by traditional Chinese medicine (TCM) approach.</p><p><b>METHODS</b>Two hundred and seven patients differentiated by TCM approach as YH type (113 cases) or PD type (94 cases) were observed, with the systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), fasting blood glucose (FBG), serum creatinine (Cr), uric acid (UA), total cholesterol (TC) and triglycerides (TG) as the criteria of observation. Gly460Trp polymorphism of the ADD1 gene was detected by MALDI-TOF mass spectrometry. Results The levels of BMI, DBP, FBG and UA, etc. in the PD group were significantly higher than those in the YH group respectively. The rate of GG, GT and TT type of ADD1 gene was 29.2%, 41.6% and 29.2% in the YH group, 28.7%, 48.9% and 22.3% in the PD group, showing no significant difference in ADD1 genotype distribution between the two groups, while there was also no difference in the hypertension phenotype distribution among different genotypes (both P > 0.05). For the patients with TT genotype, there were significant differences between the YH group and the PD group in BMI (24.11 +/- 3.04 kg/m2 vs 26.20 +/- 2.30 kg/m2), DBP (96.79 +/- 4.05 mmHg vs 99.56 +/- 3.90 mmHg), FBG (5.01 +/- 0.53 mmol/L vs 5.51 +/- 1.07 mmol/L) and UA level (302.22 +/- 71.95 micromol/L vs 358.25 +/- 88.75 micromol/L, all P < 0.05).</p><p><b>CONCLUSION</b>There was no relation between ADD1 gene polymorphism and the TCM genotype of constitution in patients with essential hypertension. However, it is likely that for hypertension patients with TT genotype, those of PD type are more susceptible to cardiovascular disease and have worse prognosis than those of YH type.</p>

Association of peripheral and central blood pressure with the alpha-adducin Gly460Trp polymorphism in a Chinese population / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the association of peripheral and central blood pressure with the alpha-adducin Gly460Trp polymorphism in Chinese.</p><p><b>METHODS</b>We randomly selected 6 villages from JingNing County, ZheJiang Province. We invited nuclear families to take part in our study. We measured each participant's blood pressure at the non-dominant arm by means of a standard mercury sphygmomanometer at subjects' homes. Five consecutive readings were averaged for analysis. Central blood pressures were obtained by use of SphigmoCor pulse wave analysis system. The observers administered a standardized questionnaire to collect information on smoking habits, alcohol consumption and use of antihypertensive drugs. Venous blood was sampled and the adducin genotype was determined by restrictive fragment length polymorphism (RFLP).</p><p><b>RESULTS</b>Four hundred and forty-two subjects included 230 (52.0%) women, and 116 (26.2%) hypertensive patients, of whom 49 (11.1%) took antihypertensive drugs. The frequencies of alpha -adducin GlyGly, GlyTrp and TrpTrp genotypes were 21.3%, 54.5% and 24.2%, respectively. There was no association between the alpha-adducin Gly460Trp polymorphism and peripheral systolic and diastolic blood pressure and pulse pressure. However, both before and after adjustment for sex, age, age(2), body-mass index, current smoking, alcohol intake, and antihypertensive treatment, the alpha-adducin polymorphism was significantly (P < 0.02) associated with central systolic blood pressure and central pulse pressure. After adjustment, central systolic blood pressure (+/- SE) averaged 122.5 +/- 3.5, 114.1 +/- 1.5 and 109.1 +/- 1.8 mm Hg (P = 0.01) in the GlyGly, GlyTrp and TrpTrp subjects, respectively. The corresponding values for central pulse pressure were 39.4 +/- 1.3, 36.4 +/- 1.0 and 32.9 +/- 0.9 mm Hg (P = 0.002), respectively.</p><p><b>CONCLUSIONS</b>In the JingNing population, the adducin 460Trp allele was associated with lower levels of central systolic pressure and pulse pressure.</p>

Association of polymorphism in alpha-adducin gene with antihypertensive effect of Hydrochlorothiazide / 中华心血管病杂志

<p><b>OBJECTIVE</b>To explore the association between G614T single nuclear polymorphism (SNP) of the alpha-adducin gene and the antihypertensive effect of hydrochlorothiazide (HCTZ) in essential hypertensive (EH) patients.</p><p><b>METHODS</b>Eight hundred twenty nine EH patients were given 12.5 mg HCTZ/d for six weeks. Alpha-adducin gene G614T SNP in the tenth exon was determined by PCR-RFLP in 754 patients with complete records. All the patients were grouped according to TT, GT and GG genotypes.</p><p><b>RESULTS</b>After 6 weeks of HCTZ treatment, the decreases in DBP and MAP of patients carrying 614T allele of alpha-adducin were significantly greater than that of those carrying GG homozygotes (P < 0.05). The decreases in SBP and MAP were significantly greater in patients with the TT genotype as compared with GT or GG genotype (P < 0.05). The effective rate of BP fall by HCTZ was higher in patients with TT genotype than those with GT or GG genotype (P < 0.05). Multivariate stepwise regression analysis showed that the TT genotype and the baseline SBP were the two major predictors affecting the decrease in SBP.</p><p><b>CONCLUSION</b>The present study suggests that the alpha-adducin G614T polymorphism is associated with the antihypertensive effect of HCTZ, which is more effective in patients with TT genotype.</p>

Effects of caldesmon, calponin, and tropomyosin on the Mg2+-ATPase activities of smooth muscle myosin / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To test whether in the absence of actin, actin-binding proteins such as caldesmon, calponin, and tropomyosin interact with the myosin of unphosphorylation, Ca2+-dependent phosphorylation (CDP), and Ca2+-independent phosphorylation (CIP) and stimulate myosin Mg2+-ATPase activities.</p><p><b>METHODS</b>Mg2+-ATPase activities were measured to evaluate the effects of caldesmon, calponin, and tropomyosin on the myosin in unphosphorylation, CDP by myosin light chain kinase (MLCK), and CIP by MLCK.</p><p><b>RESULTS</b>(1) At different incubation-time, i.e., 5, 10, 20, 40, and 60 minutes, the highest Mg2+-ATPase activity was observed when myosin was in the state of CDP, the medium was CIP of myosin, and the lowest was the unphosphorylated myosin. (2) In the absence of caldesmon, calponin, and tropomyosin, the Mg2+-ATPase activities from high to low were in the following order: CDP, CIP, and unphosphorylated myosin. However, in the presence of caldesmon, calponin, and tropomyosin, the order of relative value of Mg2+-ATPase activities from high to low was unphosphorylated, CIP, and CDP of myosin respectively compared to the corresponding controls.</p><p><b>CONCLUSIONS</b>The results propose that caldesmon, calponin, and tropomyosin are capable of stimulating Mg2+-ATPase activity of smooth muscle myosin in Ca2+-independent manner, since Ca2+ is not obligating for the stimulating effects of the three proteins. The common characteristic of the three proteins is that when myosin activities are low, their activations are relatively strong and this property might be involved in smooth muscle tension keeping.</p>