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1. 发明申请

US20090155230A1 Novel genes and markers in essential arterial hypertension 审中-公开
标题翻译：基本动脉高血压中的新基因和标志物
公开(公告)号：US20090155230A1
公开(公告)日：2009-06-18
申请号：US11822412
申请日：2007-07-05
申请人： Jukka T. Salonen , Juha-Matti Aalto , Pekka Uimari , Mia Pirskanen
发明人： Jukka T. Salonen , Juha-Matti Aalto , Pekka Uimari , Mia Pirskanen
IPC分类号： A61K48/00 , G01N33/68 , C12Q1/68 , C12Q1/52 , G01N33/53 , A61K38/02 , A61K31/7088 , A61K39/395
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The present invention relates to previously unknown disease associations between various genes, loci and biomarkers and essential hypertension. The detection of these biomarkers provides novel in vitro methods and test kits which can be used as an aid when making risk assessment, molecular diagnosis or prognosis of HT or a HT related condition. The disclosed methods and test kits do not require interaction with the body of a subject during the biomarker detection. Instead the methods and test kits are for in vitro use (e.g. in a clinical laboratory) and typically biological samples for the biomarker analyses using a method or a test kit of this invention have been collected earlier in a different place. In addition the biomarkers provide methods and systems for identifying novel agents for preventing, treating and/or reducing risk of HT or a HT related condition. The HT associated genes can be used to develop novel therapies for prevention and/or treatment of essential hypertension.
摘要翻译：本发明涉及各种基因，基因座和生物标志物之间以前未知的疾病关联和原发性高血压。这些生物标志物的检测提供了新的体外方法和测试试剂盒，可用于在进行HT或HT相关病症的风险评估，分子诊断或预后时作为辅助。所公开的方法和测试试剂盒在生物标志物检测期间不需要与受试者的身体相互作用。相反，方法和测试试剂盒用于体外使用（例如在临床实验室中），并且通常使用本发明的方法或测试试剂盒的生物标志物分析的生物样品通常在不同的位置被收集。此外，生物标志物提供用于鉴定用于预防，治疗和/或降低HT或HT相关病症风险的新药的方法和系统。 HT相关基因可用于开发用于预防和/或治疗原发性高血压的新疗法。

2. 发明授权

US07029849B2 Method for detecting a risk of hypertension and uses thereof 有权
标题翻译：检测高血压风险的方法及其用途
公开(公告)号：US07029849B2
公开(公告)日：2006-04-18
申请号：US10077870
申请日：2002-02-20
申请人： Jukka T. Salonen
发明人： Jukka T. Salonen
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02 , C07H21/04
CPC分类号： C12Q1/6883 , C07K14/70571 , C12Q2600/106 , C12Q2600/156
摘要： This invention relates to a method for detecting a risk of hypertension and for targeting antihypertensive treatment in a subject, the method comprising isolating genomic DNA from said subject, determining the DNA sequence comprising a nucleotide sequence encoding a variant α2B-adrenoceptor protein.
摘要翻译：本发明涉及一种用于检测受试者的高血压风险和靶向抗高血压治疗的方法，所述方法包括从所述受试者中分离基因组DNA，确定包含编码变体α2B2的核苷酸序列的DNA序列 - 肾上腺素受体蛋白。

3. 发明申请

US20070213274A1 Novel genes and markers associated with high-density lipoprotein-cholesterol (HDL-C) 审中-公开
标题翻译：与高密度脂蛋白胆固醇（HDL-C）相关的新型基因和标记
公开(公告)号：US20070213274A1
公开(公告)日：2007-09-13
申请号：US11640897
申请日：2006-12-19
申请人： Jukka Salonen
发明人： Jukka Salonen
IPC分类号： A61K48/00 , A61K38/17 , G06F19/00 , C12Q1/68
CPC分类号： C12Q1/60 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172 , G01N33/92 , G06Q50/24 , Y02A90/22 , Y02A90/26
摘要： This invention relates to the therapeutic, diagnostic and pharmacogenetic use of nucleic acids and proteins involved in the regulation of human high density lipoprotein (HDL) and pharmaceutical agents and other therapies affecting this. This invention discloses methods for the treatment and prevention of low HDL states and diseases to prevent cardiovascular diseases such as coronary heart disease (CHD), acute myocardial infarction (AMI), chronic CHD and cerebrovascular stroke and for selecting treatment in a subject and for selecting subjects for studies testing HDL elevating agents, as well as to transgenic animals.
摘要翻译：本发明涉及参与调节人高密度脂蛋白（HDL）和药剂以及影响其的其它疗法的核酸和蛋白质的治疗，诊断和药物遗传学应用。本发明公开了治疗和预防低HDL状态和预防心血管疾病如冠心病（CHD），急性心肌梗塞（AMI），慢性CHD和脑血管中风等疾病的方法，并用于选择受试者的治疗和选择用于研究HDL升高剂的研究对象，以及转基因动物。

4. 发明申请

US20070015170A1 Method and kit for detecting a risk of coronary heart disease 审中-公开
标题翻译：用于检测冠心病风险的方法和试剂盒
公开(公告)号：US20070015170A1
公开(公告)日：2007-01-18
申请号：US11255042
申请日：2005-10-21
申请人： Jukka Salonen , Mia Pirskanen , Pekka Uimari , Ricardo Fuentes , Outi Kontkanen , Juha-Matti Aalto
发明人： Jukka Salonen , Mia Pirskanen , Pekka Uimari , Ricardo Fuentes , Outi Kontkanen , Juha-Matti Aalto
IPC分类号： C12Q1/68 , G06F19/00
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172 , Y02A90/26
摘要： Genes, SNP markers and haplotypes of susceptibility or predisposition to CHD or CHD death are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for CHD using polymorphisms in the CHD risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for the prevention and treatment of CHD. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of CHD.
摘要翻译：公开了基因，SNP标记和对CHD或CHD死亡的易感性或倾向性的单体型。还公开了使用CHD风险基因中多态性进行诊断，预测临床病程和CHD治疗疗效的方法。本发明的基因，基因产物和药剂也可用于预防和治疗CHD。还提供了用于诊断，选择治疗和评估CHD预后的试剂盒。

5. 发明申请

US20060166205A1 Detecting the risk of cardiovascular disease by detecting mutations in genes, including genes encoding a2b-adrenoceptor and apoliporotein b 审中-公开
标题翻译：通过检测基因突变来检测心血管疾病的风险，包括编码a2b肾上腺素能受体和载脂蛋白B的基因
公开(公告)号：US20060166205A1
公开(公告)日：2006-07-27
申请号：US10530347
申请日：2003-10-07
申请人： Jukka Salonen , Tomi-Pekka Tuomainen , Mia Pirskanen
发明人： Jukka Salonen , Tomi-Pekka Tuomainen , Mia Pirskanen
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The present invention provides a method of identifying subject's susceptibility to cardiovascular diseases or risk of developing myocardial infarction (MI) or cerebrovascular stroke by detecting gene polymorphisms and other gene mutations from a biological sample of the subject and optionally obtaining information concerning the family and medical history, blood, serum, plasma and urinary analytes of the subject. The invention also provides a multivariate model, a combination or algorithm of variables which best describes the probability of cardiovascular diseases, especially MI and stroke. The invention also relates to a test kit and software for accomplishing the method.
摘要翻译：本发明提供了一种通过从受试者的生物样品中检测基因多态性和其他基因突变来鉴定受试者对心血管疾病的易感性或发展为心肌梗塞（MI）或脑血管中风的风险的方法，并且可选地获得关于家族和病史的信息，血液，血清，血浆和尿液分析物。本发明还提供了多变量模型，变量的组合或算法，其最能描述心血管疾病，特别是心肌梗死和中风的可能性。本发明还涉及用于完成该方法的测试工具包和软件。

6. 发明申请

US20060110751A1 Method and kit for detecting a risk of essential arterial hypertension 审中-公开
标题翻译：用于检测基本动脉高血压风险的方法和试剂盒
公开(公告)号：US20060110751A1
公开(公告)日：2006-05-25
申请号：US11245248
申请日：2005-10-07
申请人： Jukka Salonen , Mia Pirskanen , Pekka Uimari , Ricardo Fuentes , Outi Kontkanen , Juha-Matti Aalto
发明人： Jukka Salonen , Mia Pirskanen , Pekka Uimari , Ricardo Fuentes , Outi Kontkanen , Juha-Matti Aalto
IPC分类号： C12Q1/68 , G06F19/00
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172 , G06Q50/24 , Y02A90/22 , Y02A90/26
摘要： Genes, SNP markers and haplotypes of susceptibility or predisposition to hypertension (HT) are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for HT using polymorphisms in the HT risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of HT. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of HT.
摘要翻译：公开了基因，SNP标记和对高血压易感性或倾向性的单体型（HT）。还公开了使用HT风险基因中的多态性进行诊断，预测临床病程和治疗HT疗效的方法。本发明的基因，基因产物和试剂也可用于监测HT的预防和治疗的有效性。还提供了用于诊断，选择治疗和评估HT预后的试剂盒。

7. 发明申请

US20060040293A1 Method for detecting the risk of and for treatment of type 2 diabetes 审中-公开
标题翻译：检测2型糖尿病风险和治疗方法
公开(公告)号：US20060040293A1
公开(公告)日：2006-02-23
申请号：US11180616
申请日：2005-07-14
申请人： Jukka Salonen , Ricardo Fuentes , Outi Kontkanen , Mia Pirskanen , Pekka Uimari
发明人： Jukka Salonen , Ricardo Fuentes , Outi Kontkanen , Mia Pirskanen , Pekka Uimari
IPC分类号： C12Q1/68
CPC分类号： C12N9/1048 , C12Q1/48 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Q2600/172 , G01N33/6893 , G01N2333/91091 , G01N2800/042
摘要： A role of the human EXT2 gene in metabolic conditions such as T2D is disclosed. Methods and test kits for diagnosis, T2D risk prediction and prediction of clinical course of a metabolic condition using biomarkers related to the EXT2 gene are disclosed. Novel methods for prevention and treatment of metabolic diseases based on EXT2 gene, polypeptides and EXT2 related pathways are also disclosed.
摘要翻译：公开了人类EXT2基因在代谢条件如T2D中的作用。公开了使用与EXT2基因相关的生物标志物进行诊断，T2D风险预测和代谢状态临床病程预测的方法和检测试剂盒。还公开了基于EXT2基因，多肽和EXT2相关途径的用于预防和治疗代谢疾病的新方法。

8. 发明申请

US20070292412A1 Novel genes and markers in type 2 diabetes and obesity 有权
标题翻译： 2型糖尿病和肥胖中的新型基因和标志物
公开(公告)号：US20070292412A1
公开(公告)日：2007-12-20
申请号：US11798002
申请日：2007-05-09
申请人： Jukka Salonen , Jelena Hypponen , Jari Kaikkonen , Mia Pirskanen , Pekka Uimari , Juha-Matti Aalto
发明人： Jukka Salonen , Jelena Hypponen , Jari Kaikkonen , Mia Pirskanen , Pekka Uimari , Juha-Matti Aalto
IPC分类号： A61K31/16 , A01K67/00 , A61K31/165 , A61K31/17 , A61K31/40 , A61K31/44 , A61K31/445 , A61K31/4965 , A61K31/70 , A61K38/00 , A61K38/28 , A61K39/395 , A61K48/00 , A61P43/00 , C12Q1/68
CPC分类号： C12Q1/6883 , A61K31/00 , A61K38/1709 , C12Q2600/106 , C12Q2600/136 , C12Q2600/156 , C12Q2600/172 , G01N33/6893 , G01N2500/00 , G01N2800/042 , Y02A90/26
摘要： Genes, SNP markers and haplotypes of susceptibility or predisposition to T2D and subdiagnosis of T2D and related medical conditions are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for T2D, obesity and related phenotypes using polymorphisms in the risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of T2D and related traits. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of T2D. Novel methods for prevention and treatment of metabolic diseases such as T2D based on the disclosed T2D genes, polypeptides and related pathways are also disclosed.
摘要翻译：公开了基因，SNP标记和对T2D的易感性或易感性和T2D的亚诊断和相关医学状况的单倍型。还公开了使用多态性在风险基因中诊断，预测T2D治疗，肥胖和相关表型的临床疗效和疗效的方法。本发明的基因，基因产物和药剂也可用于监测预防和治疗T2D及相关性状的有效性。还提供了用于诊断，选择治疗和评估T2D预后的试剂盒。还公开了基于所公开的T2D基因，多肽和相关途径预防和治疗代谢疾病如T2D的新方法。

9. 发明授权

US07211387B2 DNA molecule encoding a variant paraoxonase and uses thereof 有权
标题翻译：编码变体对氧磷酶的DNA分子及其用途
公开(公告)号：US07211387B2
公开(公告)日：2007-05-01
申请号：US10691562
申请日：2003-10-24
申请人： Jukka T. Salonen , Marja Marchesani , Tomi-Pekka Tuomainen , Jari Kaikkonen
发明人： Jukka T. Salonen , Marja Marchesani , Tomi-Pekka Tuomainen , Jari Kaikkonen
IPC分类号： C12Q1/68 , C12Q1/34 , C12Q1/44 , C12N9/16 , C12N9/18 , C07H21/04
CPC分类号： C12N9/18 , A01K2217/05 , C12Q1/6886 , C12Q2600/156 , C12Y301/01002
摘要： This invention is directed to a DNA sequence comprising a nucleotide sequence encoding a variant paraoxonase protein and to said variant paraoxonase protein as well as a method and a kit for detecting a risk of cancer, coronary or cerebrovascular disease, hypertension, type 2 diabetes, dementia, joint arthrosis, cataract, or sensitivity to organophosphorus compounds in a subject, the method comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 102 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of Ile101Val mutation indicating said risk being increased and for targeting paraoxonase activity modulating therapies. Further this invention relates to transgenic animals comprising a human DNA molecule encoding said variant paraoxonase and to a method of phenotype-targeted gene sequencing.
摘要翻译：本发明涉及包含编码变体对氧磷酶蛋白质核苷酸序列和所述变体对氧磷酶蛋白质的DNA序列，以及用于检测癌症，冠状动脉或脑血管疾病，高血压，2型糖尿病，痴呆风险的方法和试剂盒，联合关节病，白内障或对受试者中有机磷化合物的敏感性，所述方法包括从所述受试者中分离基因组DNA，确定编码基因组DNA中的PON1基因的对氧磷酶的密码子102的等位基因图谱，鉴定表示所述受体的Ile101Val突变风险增加，靶向对氧磷酶活性调节疗法。此外，本发明涉及包含编码所述变体对氧磷酶的人DNA分子和表型靶向基因测序方法的转基因动物。

10. 发明申请

US20060099610A1 Method and kit for detecting a risk of acute myocardial infarction 审中-公开
标题翻译：用于检测急性心肌梗死风险的方法和试剂盒
公开(公告)号：US20060099610A1
公开(公告)日：2006-05-11
申请号：US11143642
申请日：2005-10-11
申请人： Jukka Salonen , Juha-Matti Aalto , Ricardo Fuentes , Outi Kontkanen , Mia Pirskanen , Pekka Uimari
发明人： Jukka Salonen , Juha-Matti Aalto , Ricardo Fuentes , Outi Kontkanen , Mia Pirskanen , Pekka Uimari
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/112 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： Genes, SNP markers and haplotypes of susceptibility or predisposition to CHD such as AMI are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for AMI using polymorphisms in the AMI risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of AMI and CHD. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of CHD and AMI.
摘要翻译：公开了基因，SNP标记和对CHD敏感性或倾向性的单体型，例如AMI。还披露了使用AMI风险基因中多态性进行诊断，预测临床病程和治疗AMI疗效的方法。本发明的基因，基因产物和药剂也可用于监测AMI和CHD的预防和治疗的有效性。还提供了用于诊断，选择治疗和评估CHD和AMI预后的试剂盒。

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