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Zoltán Maróti Marketa Sutajova Andreas Gal Hans Gerd Nothwang Andrew E. Czeizel László Tímár Enikö Sólyom 《American journal of medical genetics. Part A》2002,109(3):234-237
Altered plasma levels of lipids and lipoproteins, obesity, hypertension, and diabetes are major risk factors for atherosclerotic cardiovascular disease. To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI‐CIII‐AIV gene cluster (apo AI‐CIII‐AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7α‐hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.) A total of 1,102 individuals from the Pacific island of Kosrae were genotyped for the following markers: Apo AII/MspI, Apo CIII/SstI, Apo AI/XmnI, Apo E/HhaI, CETP/TaqIB, CYP7a/BsaI, HL/DraI, and MTP/HhpI. After testing for population stratification, family‐based association analysis was carried out. Novel associations found were: 1) the apo AII/MspI with apo AI and BP levels, 2) the CYP7a/BsaI with apo AI and BMI levels. We also confirmed the following associations: 1) the apo AII/MspI with Tg level; 2) the apo CIII/SstI with Tg, TC, and apo B levels; 3) the Apo E/HhaI E2, E3, and E4 alleles with TC, apo AI, and apo B levels; and 4) the CETP/TaqIB with apo AI level. We further confirmed the connection between the apo AII gene and Tg level by a nonparametric linkage analysis. We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease. © 2002 Wiley‐Liss, Inc. 相似文献
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Arij Mechergui Wafa Achour Dario Giorgini Rekaya Baaboura Muhamed‐Kheir Taha Assia Ben Hassen 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2013,121(9):843-847
Multilocus sequence typing and pulsed‐field gel electrophoresis were used to type 22 commensal isolates of Neisseria perflava collected by swabbing from neutropenic patients. High genetic diversity was found among our N. perflava clinical isolates. 相似文献
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High‐grade PanIN presenting with localised stricture of the main pancreatic duct: A clinicopathological and molecular study of 10 cases suggests a clue for the early detection of pancreatic cancer
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Masataka Yokode Masayuki Akita Kohei Fujikura Mi‐Ju Kim Yukiko Morinaga Seiichi Yoshikawa Takuro Terada Hiroshi Matsukiyo Takuma Tajiri Shiho Abe‐Suzuki Tomoo Itoh Seung‐Mo Hong Yoh Zen 《Histopathology》2018,73(2):247-258
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Wai Kien Yip Chee Wei Choo Vincent Ching‐Shian Leong Pooi Pooi Leong Mohd Faisal Jabar Heng Fong Seow 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2013,121(10):954-966
Molecular alterations in KRAS, BRAF, PIK3CA, and PTEN have been implicated in designing targeted therapy for colorectal cancer (CRC). The present study aimed to determine the status of these molecular alterations in Malaysian CRCs as such data are not available in the literature. We investigated the mutations of KRAS, BRAF, and PTEN, the gene amplification of PIK3CA, and the protein expression of PTEN and phosphatidylinositol 3‐kinase (PI3K) catalytic subunit (p110α) by direct DNA sequencing, quantitative real‐time PCR, and immunohistochemistry, respectively, in 49 CRC samples. The frequency of KRAS (codons 12, 13, and 61), BRAF (V600E), and PTEN mutations, and PIK3CA amplification was 25.0% (11/44), 2.3% (1/43), 0.0% (0/43), and 76.7% (33/43), respectively. Immunohistochemical staining demonstrated loss of PTEN protein in 54.5% (24/44) of CRCs and no significant difference in PI3K p110α expression between CRCs and the adjacent normal colonic mucosa (p = 0.380). PIK3CA amplification was not associated with PI3K p110α expression level, but associated with male cases (100% of male cases vs 56% of female cases harbored amplified PIK3CA, p = 0.002). PI3K p110α expression was significantly higher (p = 0.041) in poorly/moderately differentiated carcinoma compared with well‐differentiated carcinoma. KRAS mutation, PIK3CA amplification, PTEN loss, and PI3K p110α expression did not correlate with Akt phosphorylation or Ki‐67 expression. KRAS mutation, PIK3CA amplification, and PTEN loss were not mutually exclusive. This is the first report on CRC in Malaysia showing comparable frequency of KRAS mutation and PTEN loss, lower BRAF mutation rate, higher PIK3CA amplification frequency, and rare PTEN mutation, as compared with published reports. 相似文献
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Daniel Wetterskog Paul M Wilkerson Daniel N Rodrigues Maryou B Lambros Karen Fritchie Mattias K Andersson Rachael Natrajan Arnaud Gauthier Silvana Di Palma Sami Shousha Zoran Gatalica Chantal Töpfer Vesna Vukovic Roger A'Hern Britta Weigelt Anne Vincent‐Salomon Göran Stenman Brian P Rubin Jorge S Reis‐Filho 《Histopathology》2013,62(4):543-550
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Multiple and bilateral kidney tumors with clear cells of three different histotypes: A case report with clinicopathologic and molecular study
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Maria Rosaria Raspollini Francesca Castiglione Guido Martignoni Alberto Lapini Liang Cheng Rodolfo Montironi Antonio Lopez‐Beltran 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(7):619-623
We describe a rare multicentric neoplastic disease arising bilteraly in the kidney. The patient was a 70‐year‐old man, who, during a period of 3 years, was treated for five independent tumors of three histotypes (three multilocular cystic clear cell renal cell neoplasms of low malignant potential, one clear cell renal cell carcinoma, and one clear cell papillary renal cell carcinoma, respectively). Pathologic diagnosis of the reported tumors was confirmed by immunohistochemical analyses, including CD10, CA IX, CK7, AMACR/RACEMASE, and 34 beta E12. Molecular detection of KRAS, BRAF, NRAS, PIK3CA, ALK, ERBB2, DDR2, MAP2K1, RET, and EGFR gene mutational analysis was also performed in all tumors. 相似文献
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Relevance of spontaneous fabT mutations to a streptococcal toxic shock syndrome to non‐streptococcal toxic shock syndrome transition in the novel‐type Streptococcus pyogenes isolates that lost a salRK
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Ichiro Tatsuno Ryo Okada Masakado Matsumoto Nanako Hata Hideyuki Matsui Yan Zhang Masanori Isaka Tadao Hasegawa 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2016,124(5):414-424
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Familial adenomatous polyposis‐associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features
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Taiki Hashimoto Reiko Ogawa Akiko Matsubara Hirokazu Taniguchi Kokichi Sugano Mineko Ushiama Teruhiko Yoshida Yae Kanai Shigeki Sekine 《Histopathology》2015,67(5):689-698
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Novel gene fusion of PRCC–MITF defines a new member of MiT family translocation renal cell carcinoma: clinicopathological analysis and detection of the gene fusion by RNA sequencing and FISH
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Qiu‐Yuan Xia Xiao‐Tong Wang Sheng‐Bing Ye Xuan Wang Rui Li Shan‐Shan Shi Ru Fang Ru‐Song Zhang Heng‐Hui Ma Zhen‐Feng Lu Qin Shen Wei Bao Xiao‐Jun Zhou Qiu Rao 《Histopathology》2018,72(5):786-794
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