Mutation in CYP27A1 identified in family with coronary artery disease

InanlooRahatloo, Kolsoum; Parsa, Amir Farhang Zand; Huse, Klaus; Rasooli, Paniz; Davaran, Saeid; Platzer, Matthias; Fan, Jian‐Bing; Amini, Sasan; Steemers, Frank J.; Elahi, Elahe

doi:10.1016/j.ejmg.2013.09.008

Cited by 18 publications

(14 citation statements)

References 40 publications

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“…CYP27A1 encodes the enzyme sterol 27-hydroxylase that is involved in vitamin D metabolism and reverse transportation of cholesterol. The mutant enzyme likely affects the reverse transportation of cholesterol [20]. Gene LRP6 encodes LDL receptor-related protein 6 and a missense mutation named p.R611C in an Iranian ancestry is associated with CAD.…”

Section: Genetic Factors In Cad Causalitymentioning

confidence: 99%

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9P21.3 locus; An Important Region in Coronary Artery Disease: A Panel Approach to Investigation of the Coronary Artery Disease Etiology

Omidi

Ebrahimzadeh

Kalayinia

2019

ijcp

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Coronary artery disease (CAD) is a disease of major concern worldwide. It is the main cause of mortality in many societies and improving the understanding about the CAD mechanism, progression and treatment, is necessary. Recent discovery of genetic factors underlying CAD has improved our knowledge of the disease in support of well-known traditional risk factors. Genotype-environment interaction is known as the main risk factor. Loci on many different chromosomes have been identified as a risk factors that increase CAD susceptibility. Here we performed a comprehensive literature review pinpointing hotspot loci involved in CAD pathogenicity. The 9p21.3 locus is the most common region associated with CAD and its specific structure and function have been remarkable in many studies. Moreover, the variations in the 9p21.3 locus have been implicated in CAD patients in different populations around the world. According to conclusions from this the 9p21.3 locus can be the first point of focus in etiology investigations of CAD patients.

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Section: Genetic Factors In Cad Causalitymentioning

confidence: 99%

“…20), SMG6 (17p13.3), and UBE2Z (17q21.32)[36]. In another study of European and South Asian cohorts, Mehta reported five novel loci associated with CAD, including LIPA (10q23), PDGFD (11q22), ADAMTS7-MORF4L1 (15q25), BCAP29 (7q22), and KIAA1462 (10p11)[40].…”

mentioning

confidence: 99%

9P21.3 locus; An Important Region in Coronary Artery Disease: A Panel Approach to Investigation of the Coronary Artery Disease Etiology

Omidi

Ebrahimzadeh

Kalayinia

2019

ijcp

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“…Эти молекулы, как известно, вовлечены в патогенез сердечно-сосудистой системы [17]; ■ потенциальный фактор мутаций в CYP27A1-гене [18,19]; ■ ST6GALNAC5-ген, который является новейшим допол-нением к группе причинных генов для наследственной ИБС [20].…”

Section: прогнозирование заболеваний пациента на основе анализа генетunclassified

Personalized Medicine in Cardiology: State, Problems and Prospects

2017

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ФАРМАКОГЕНЕТИКАВозможность владеть генетической информацией позволила начать внедрение персонализированной медицины в клиническую практику. Генетические иссле-дования начали показывать, что некоторые лекарства в определенных условиях очень эффективны для одних пациентов и неэффективны, а иногда даже опасны -для других. Поэтому на стыке фармакологии и генетики воз-никла фармакогенетика -наука, изучающая роль генети-ческих факторов в формировании фармакологического ответа организма человека на лекарственное средство [1]. Это может дать возможность врачу персонализиро-ванно выбрать как само лекарство, так и дозу у конкрет-ного больного и обеспечить максимальную эффектив-ность и безопасность препарата.Роль наследственности в формировании индивиду-ального ответа на лекарственные средства была известна давно, понимание механизмов влияния гене-тических факторов на эффективность и безопасность фармакотерапии стало возможным лишь с развитием методов молекулярной биологии и реализацией меж-дународной программы «Геном человека». Последние данные, имеющиеся о строении генома человека, явно показывают, что существует множество вариаций генов, которые объясняют различия в абсорбции пре-парата, распределении, метаболизме, выведении и в итоге ответную реакцию организма на фармацевтиче-ский препарат. Такие предварительные успехи дали понять, что подобное исследование позволит получить такую медицину, которая окажется и индивидуальной, и точной. Personalized medicine appeared about three decades ago. Even then many scientists, researchers, doctors were interested into it. However, only after the full opening of the human genome in 2001, personalized medicine could to give the opportunity for some pathologies (oncology, rheumatology, cardiology) to choose the most effective treatment with minimal adverse drug reactions for a specific patient. The opportunity to own genetic information gives the chance to suspect, to predict, to expect the onset of the disease. Personalized medicine is able in some cases to say exactly whether the drug can work for the patient, moving us to «treat not a disease, but the patient.» But doctors to this day when determining risk factors focus on individual characteristics of the patient, such as age, gender, body weight, co-morbidities, and based on that prescribe medications, correct dose and in case of ineffectiveness change the treatment regimen. Apparently they don't believe in personalized medicine, afraid of it and I don't want to associate with it, because as many think on the basis of their experience and knowledge they can decide which drug and what dose to prescribe. Also, there are a number of reasons related to privacy, security, problem of training, which will soon need to be addressed.

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“…Coronary artery disease is a paradigmatic complex disorder caused by multiple physiologic, genetic and environmental factors 1 . CAD is still considered a worldwide leading cause of mortality in developing nations.…”

Section: Introductionmentioning

confidence: 99%

Role of Paraoxonase-1 (Q192R) Gene Polymorphism in Coronary Artery Disease in Saudi Arabian Population

2019

J Liaquat Uni Med Health Sci

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OBJECTIVES: To assess the prevalence and dissemination of PON1 Q192R polymorphism and PON1 activities in CAD patients and controls. METHODOLOGY: A case control study, conducted from October 2016 to December 2017. Seventy angiographically confirmed Saudi CAD subjects and 52 healthy individuals were selected in this study. Frequencies of the PON1 gene was done by polymerase chain reaction-restriction fragment length polymorphism technique. Enzyme PON1 activity was estimated by method and using phenyl acetate as substrate. Chi-square and multiple linear regression analyzes was done to determine the odds ratio (OR) for development of CAD. RESULTS: The PON1 192 RR genotype was observed to be predominant among CAD patients compared to healthy control group members. There was a 2.52 fold increase in the threat of CAD patients in the PON1 RR genotype when contrast to QQ genotype (OR=2.520, 1.018-6.242). Drastically decreased activity of enzyme PON1 was found in CAD patients compared to controls (89.9 vs 128.5 U/l). In the multinomial analysis, the Odds ratio for PON1 192 RR genotype is 2.70, p<0.001. CONCLUSION: The study presented that significant relationship among PON1 192 RR genotype and decreased serum PON1 activity might be an effective key risk factor for atherosclerotic heart disease. We suggest that assessing of the PON1 levels can be used as a reliable biochemical marker in the diagnostic tool for cardiovascular disease.

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Mutation in CYP27A1 identified in family with coronary artery disease

Cited by 18 publications

References 40 publications

9P21.3 locus; An Important Region in Coronary Artery Disease: A Panel Approach to Investigation of the Coronary Artery Disease Etiology

9P21.3 locus; An Important Region in Coronary Artery Disease: A Panel Approach to Investigation of the Coronary Artery Disease Etiology

Personalized Medicine in Cardiology: State, Problems and Prospects

Role of Paraoxonase-1 (Q192R) Gene Polymorphism in Coronary Artery Disease in Saudi Arabian Population

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