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CaSR gen polimorfizmin koroner arter hastaların patogenezinde rolünün araştırılması

Year 2018, Volume: 28 Issue: 3, 121 - 126, 01.09.2018

Kürşat Kargün

Abstract

Amaç: Koroner arter hastalığı KAH dünya çapında sık görülen kalp hastalığı tiplerinden biridir. Gelişmekte olan ülkelerdeki yüksek prevalansı nedeniyle, dünya genelinde en fazla görünen nedenlerden biri olarak kabuledilmektedir.Primerhiperparatiroidizm gibi kalsiyum homeostaz bozuklukları, kardiyovasküler nedenlere bağlı ölüm riskini artırabilir. Bu çalışmada kroner arter hastaların patogenezinde CaSR genine ait rs1048213, rs9883099 gen plimorfizminin rolünün araştırılması ve tüm nedenlere bağlı ölüm veya mortalite ile ilişkili olup olmadığını belirlenmesini amaçladık. Gereç ve Yöntem: Çalışma135 KAH olan olgu ile herhangi bir Kalp rahatsızlığı olmayan sağlıklı 139 gönüllü verileri karşılaştırıldı,CaSR genine ait rs1048213, rs9883099 polimorfizmi ise hastalardan alınan kan örneklerinden elde edilen DNA lar gerçek zamanlı polimeraz zincir reaksiyonu PCR ile araştırıldı.Bulgular: Biyokimyasal parametreler vücut kitle indeksi VKİ , Hipertansiyon; Diyabet, Sigara içme, Toplam kolesterol, Trigliseritler, HDL‐kolesterol, LDL‐kolesterol değerleri kontrollere göre anlamlılık tespit edilmiştir p

Keywords

Koroner arter hastalığı gen polimorfizim rs1048213 rs9883099

References

  • Yamada Y, Izawa H, Ichihara S, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002; 347:1916–192.
  • Murray CJ, Lopez AD. Measuring the global burden of dise- ase. N Engl J Med 2013; 369(5):448–57.
  • Poulter N. Coronary heart disease is a multifactorial dise- ase. American Journal of Hypertension 1999;12(S6):92–5.
  • Arnett D. K., Baird A. E., Barkley R. A., et al. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Geno- mics and Translational Biology Interdisciplinary Working Group. Circulation 2007;115(22):2878–901.
  • Deloukas P., Kanoni S., et al. Large-scale association analy- sis identifies new risk loci for coronary artery disease. Nature Genetics 2013;45(1):25–33.
  • Nikpay M, Goel A, Won HH, et al. A comprehensive 1,000 genomesbased genome-wide association meta-analysis of coronary artery disease. Nature Genetics 2015;47(10):1121– 30.
  • Castelli WP. Cholesterol and lipids in the risk of coronary artery disease—the Framingham Heart Study. Can J Cardi- ol 1988; (Suppl A):5A–10A.
  • Linsel-Nitschke P, Tall AR. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov 2005; 4(3):193–205.
  • Roberts R. A genetic basis for coronary artery disease. Trends Cardiovasc Med 2015; 25(3):171–8.
  • Acton S, Rigotti A, Landschulz KT, et al. Identification of scavenger receptor SR-BI as a high density lipoprotein re- ceptor. Science 1996; 271(5248):518–20.
  • Winfried März, Ursula Seelhorst Britta Wellnitz et al. Ala- nine to Serine Polymorphism at Position 986 of the Cal- cium-Sensing Receptor Associated with Coronary Heart Disease, Myocardial Infarction, All-Cause, and Cardiovas- cular Mortality. J Clin Endocrinol & Metabol 2007; 92 (6): 2363–9.
  • Bai M. Structure-function relationship of the extracellular calcium-sensing receptor. Cell Calcium 2004;35:197-207.
  • Pearce SH, Thakker RV. The calcium-sensing receptor: in- sights into extracellular calcium homeostasis in health and disease. J Endocrinol 1997; 154: 371-8.
  • Cho HJ, Kim SY, Young B., et al. The opposite correlation between calcium ion and cyclic-AMP regarding the activa- tion of microsomal triglyceride transfer protein in rat liver. BMB Rep 2009; 42: 642-7.
  • Cifuentes M, Rojas CV. Antilipolytic effect of calcium-sen- sing receptor in human adipocytes Mol Cell Biochem 2008; 319: 17-21.
  • He YH, Song Y, Liao XL., et al. The calcium-sensing recep- tor affects fat accumulation via effects on antilipolytic pat- hways in adipose tissue of rats fed low-calcium diets. J Nutr 2011; 141: 1938-46.
  • He Y, Zhang H, Teng J, Huang L, Li Y, Sun C. Involvement of calciumsensing receptor in inhibition of lipolysis throu- gh intracellular cAMP and calcium pathways in human adi- pocytes. Biochem Biophys Res Commun 2011; 404: 393-9.
  • Malecki R, Fiodorenko-Dumas Z, Jakobsche-Policht U, Ma- lodobra M, Adamiec R. Altered monocyte calcium-sensing receptor expression in patients with type 2 diabetes mellitus and atherosclerosis. J Physiol Pharmacol 2013;64(4):521-7.
  • Hedback G, Oden A. Death risk factor analysis in primary hyperparathyroidism. Eur J Clin Invest 1998; 28:1011–8.
  • Schulz E, Arfai K, Liu X, Sayre J, Gilsanz V. Aortic calci- fication and the risk of osteoporosis and fractures. J Clin Endocrinol Metab 2004; 89:4246–53.
  • Banks LM, Lees B, MacSweeney JE, Stevenson JC. Effect of degenerative spinal and aortic calcification on bone density measurements in post-menopausal women: links between osteoporosis and cardiovascular disease ? Eur J Clin Invest 1994; 24:813–7.
  • Jie KG, Bots ML, Vermeer C, Witteman JC, Grobbee DE. Vitamin K status and bone mass in women with and wit- hout aortic atherosclerosis: apopulation-based study. Calcif Tissue Int 1996; 59:352–6.
  • Hak AE, Pols HA, van Hemert AM, Hofman A, Witteman JC. Progression of aortic calcification is associated with me- tacarpal bone loss during menopause: a population-based longitudinal study. Arterioscler Thromb Vasc Biol 2000; 20:1926–31.
  • Alam MU, Kirton JP, Wilkinson FL, et al. Calcification is associated with loss of functional calcium-sensing recep- tor in vascular smooth muscle cells. Cardiovasc Res 2009; 81(2): 260-8.
  • Mallika V, Goswami B, Rajappa M. Atherosclerosis pathop- hysiology and the role of novel risk factors: A clinicobioc- hemical perspective. Angiology 2007; 58: 513-22.
  • Ceylan Y, Kaya Y, Tuncer M. Akut Koroner Sendrom Kli- niği ile Başvuran Hastalarda Koroner Arter Hastalığı Risk Faktörleri. Van Tıp Dergisi 2011; 18(7):3.
  • Onat A, Yüksel M, Köroğlu M, ve ark. TEKHARF: Genel ve koroner mortalite ile metabolik sendrom prevalansı eğilim- leri. Türk Kardiyoloji Derneği Arşivi 2013; 41: 1-3.
  • Özkan A. Akut koroner sendromlar: Epidemiyoloji. Türk Kardiyoloji Derneği Arşivi 2013; 41(1): 1-3.
  • Buğan B, Çelik T. Koroner Arker Hastalığı Risk Faktörleri. J Clin Analytic Med 2014; 5(2): 159-63.
  • Tanboğa İH, Can MM, Özkan A, ve ark. Koroner arter has- talarında insan trombosit antijen-1 gen polimorfizmi ile klopidogrel direnci ilişkisi, Turk Kardiyol Dern Ars 2013; 41(5): 379-85.
  • Ayçiçek GŞ, Başkal N. Primer hiperparatiroidizmde P27/ KİP1 ve casr ekspresyonu;klinik, laboratuvar parametreler ve kemik yoğunluğu ile ilişkileri / P27/KİP1 and casr exp- ressıon in primary hyperparathyroidism; the relationship between clinic, laboratory parameters and bone density, Ankara Üniversitesi /Tıp Fakültesi /İç Hastalıkları Anabi- lim Dalı Tıpta Uzmanlık 2014 69 s.
  • Karadag B, Güven M, Hacioglu Y, ve ark. Relationship between two estrogen receptor-[alpha] gene polymorphis- ms and angiographic coronary artery disease/Iki östrojen reseptör-[alpha] gen polimorfizminin anjiyografik koroner arter hastaligi ile olan ilişkisi. Anatolian J Cardiol 2009; 9(4): 267-72.
  • Lawlor DA, Davey Smith G, et al. Plasma adiponectin levels are associated with insulin resistance, but do not predict fu- ture risk of coronary heart disease in women. J Clin Endoc- rinol Metab 2005; 90:5677–83.
  • Şenol S, Tekümit H, Kara M, ve ark. Adiponectin and lep- tin polymorphisms in patients with coronary artery disease Koroner arter hastalarında adiponektin ve leptin polimor- fizmleri. Turk Gogus Kalp Damar 2015;23(4):637-42.
  • Sattar N, Wannamethee G, Sarwar N, et al. Adiponectin and coronary heart disease: a prospective study and metaa- nalysis. Circulation 2007; 115(10):e322.
  • Ko YL, Ko YS, Wang SM, et al. Angiotensinogen and an- giotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese. Hum Genet 1997;100: 210-4.
  • He YH1, Kong WL, Wang G, et al. The calcium-sensing re- ceptor R990G polymorphism is associated with increased risk of hypertriglyceridemia in obese Chinese. Gene 2014; 533(1): 67-71.
  • Babinsky VN, Hannan FM, Youhanna SC, et al. Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphis- ms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients. PLoS One. 2015; 10(3): e0119459.
  • Aslan EI, Aydoğan HY. Koroner kalp hastalarında kalsi- yum-duyarlı reseptör (CASR) gen lokusunda CASR-fonk- siyonunu değiştiren gen varyasyonlarının incelenmesi / Investigating the function-changing genetic variations on the calcium-sensing receptor (CASR) locus in coronary heart disease patients, İstanbul Üniversitesi / Sağlık Bilim- leri Enstitüsü /Moleküler Tıp Anabilim Dalı, Yüksek Lisans 2015 88 s.

Year 2018, Volume: 28 Issue: 3, 121 - 126, 01.09.2018

Kürşat Kargün

Abstract

Objective: Coronary artery disease is one of the most commonly seen heart diseases worldwide. Given high prevalence in developing countries, it is considered as most frequent causes of death worldwide. Disorders of calcium homeostasis such as primary hyperparathyroidism can increase mortality risk due to cardiovascular causes. In this study, we aimed to investigate role of rs1048213 and rs9883099 polymorphisms in CaSR gene in the pathogenesis of coronary artery disease and to determine whether they are associated to all-causes death and mortality. Material and Method: Data from patients with 135 coronary artery disease and 139 healthy volunteer without heart disease were compared in this study. rs1048213 and rs9883099 polymorphisms were screened by using real-time PCR in blood samples obtained from patients.Results: Significant differences were detected in biochemical parameters, BMI, hypertension, diabetes mellitus, smoking, total cholesterol, triglyceride, HDL-cholesterol and LDL-cholesterol when compared to controls p

Keywords

Coronary artery disease gene polymorphism rs1048213 rs9883099

References

  • Yamada Y, Izawa H, Ichihara S, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002; 347:1916–192.
  • Murray CJ, Lopez AD. Measuring the global burden of dise- ase. N Engl J Med 2013; 369(5):448–57.
  • Poulter N. Coronary heart disease is a multifactorial dise- ase. American Journal of Hypertension 1999;12(S6):92–5.
  • Arnett D. K., Baird A. E., Barkley R. A., et al. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Geno- mics and Translational Biology Interdisciplinary Working Group. Circulation 2007;115(22):2878–901.
  • Deloukas P., Kanoni S., et al. Large-scale association analy- sis identifies new risk loci for coronary artery disease. Nature Genetics 2013;45(1):25–33.
  • Nikpay M, Goel A, Won HH, et al. A comprehensive 1,000 genomesbased genome-wide association meta-analysis of coronary artery disease. Nature Genetics 2015;47(10):1121– 30.
  • Castelli WP. Cholesterol and lipids in the risk of coronary artery disease—the Framingham Heart Study. Can J Cardi- ol 1988; (Suppl A):5A–10A.
  • Linsel-Nitschke P, Tall AR. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov 2005; 4(3):193–205.
  • Roberts R. A genetic basis for coronary artery disease. Trends Cardiovasc Med 2015; 25(3):171–8.
  • Acton S, Rigotti A, Landschulz KT, et al. Identification of scavenger receptor SR-BI as a high density lipoprotein re- ceptor. Science 1996; 271(5248):518–20.
  • Winfried März, Ursula Seelhorst Britta Wellnitz et al. Ala- nine to Serine Polymorphism at Position 986 of the Cal- cium-Sensing Receptor Associated with Coronary Heart Disease, Myocardial Infarction, All-Cause, and Cardiovas- cular Mortality. J Clin Endocrinol & Metabol 2007; 92 (6): 2363–9.
  • Bai M. Structure-function relationship of the extracellular calcium-sensing receptor. Cell Calcium 2004;35:197-207.
  • Pearce SH, Thakker RV. The calcium-sensing receptor: in- sights into extracellular calcium homeostasis in health and disease. J Endocrinol 1997; 154: 371-8.
  • Cho HJ, Kim SY, Young B., et al. The opposite correlation between calcium ion and cyclic-AMP regarding the activa- tion of microsomal triglyceride transfer protein in rat liver. BMB Rep 2009; 42: 642-7.
  • Cifuentes M, Rojas CV. Antilipolytic effect of calcium-sen- sing receptor in human adipocytes Mol Cell Biochem 2008; 319: 17-21.
  • He YH, Song Y, Liao XL., et al. The calcium-sensing recep- tor affects fat accumulation via effects on antilipolytic pat- hways in adipose tissue of rats fed low-calcium diets. J Nutr 2011; 141: 1938-46.
  • He Y, Zhang H, Teng J, Huang L, Li Y, Sun C. Involvement of calciumsensing receptor in inhibition of lipolysis throu- gh intracellular cAMP and calcium pathways in human adi- pocytes. Biochem Biophys Res Commun 2011; 404: 393-9.
  • Malecki R, Fiodorenko-Dumas Z, Jakobsche-Policht U, Ma- lodobra M, Adamiec R. Altered monocyte calcium-sensing receptor expression in patients with type 2 diabetes mellitus and atherosclerosis. J Physiol Pharmacol 2013;64(4):521-7.
  • Hedback G, Oden A. Death risk factor analysis in primary hyperparathyroidism. Eur J Clin Invest 1998; 28:1011–8.
  • Schulz E, Arfai K, Liu X, Sayre J, Gilsanz V. Aortic calci- fication and the risk of osteoporosis and fractures. J Clin Endocrinol Metab 2004; 89:4246–53.
  • Banks LM, Lees B, MacSweeney JE, Stevenson JC. Effect of degenerative spinal and aortic calcification on bone density measurements in post-menopausal women: links between osteoporosis and cardiovascular disease ? Eur J Clin Invest 1994; 24:813–7.
  • Jie KG, Bots ML, Vermeer C, Witteman JC, Grobbee DE. Vitamin K status and bone mass in women with and wit- hout aortic atherosclerosis: apopulation-based study. Calcif Tissue Int 1996; 59:352–6.
  • Hak AE, Pols HA, van Hemert AM, Hofman A, Witteman JC. Progression of aortic calcification is associated with me- tacarpal bone loss during menopause: a population-based longitudinal study. Arterioscler Thromb Vasc Biol 2000; 20:1926–31.
  • Alam MU, Kirton JP, Wilkinson FL, et al. Calcification is associated with loss of functional calcium-sensing recep- tor in vascular smooth muscle cells. Cardiovasc Res 2009; 81(2): 260-8.
  • Mallika V, Goswami B, Rajappa M. Atherosclerosis pathop- hysiology and the role of novel risk factors: A clinicobioc- hemical perspective. Angiology 2007; 58: 513-22.
  • Ceylan Y, Kaya Y, Tuncer M. Akut Koroner Sendrom Kli- niği ile Başvuran Hastalarda Koroner Arter Hastalığı Risk Faktörleri. Van Tıp Dergisi 2011; 18(7):3.
  • Onat A, Yüksel M, Köroğlu M, ve ark. TEKHARF: Genel ve koroner mortalite ile metabolik sendrom prevalansı eğilim- leri. Türk Kardiyoloji Derneği Arşivi 2013; 41: 1-3.
  • Özkan A. Akut koroner sendromlar: Epidemiyoloji. Türk Kardiyoloji Derneği Arşivi 2013; 41(1): 1-3.
  • Buğan B, Çelik T. Koroner Arker Hastalığı Risk Faktörleri. J Clin Analytic Med 2014; 5(2): 159-63.
  • Tanboğa İH, Can MM, Özkan A, ve ark. Koroner arter has- talarında insan trombosit antijen-1 gen polimorfizmi ile klopidogrel direnci ilişkisi, Turk Kardiyol Dern Ars 2013; 41(5): 379-85.
  • Ayçiçek GŞ, Başkal N. Primer hiperparatiroidizmde P27/ KİP1 ve casr ekspresyonu;klinik, laboratuvar parametreler ve kemik yoğunluğu ile ilişkileri / P27/KİP1 and casr exp- ressıon in primary hyperparathyroidism; the relationship between clinic, laboratory parameters and bone density, Ankara Üniversitesi /Tıp Fakültesi /İç Hastalıkları Anabi- lim Dalı Tıpta Uzmanlık 2014 69 s.
  • Karadag B, Güven M, Hacioglu Y, ve ark. Relationship between two estrogen receptor-[alpha] gene polymorphis- ms and angiographic coronary artery disease/Iki östrojen reseptör-[alpha] gen polimorfizminin anjiyografik koroner arter hastaligi ile olan ilişkisi. Anatolian J Cardiol 2009; 9(4): 267-72.
  • Lawlor DA, Davey Smith G, et al. Plasma adiponectin levels are associated with insulin resistance, but do not predict fu- ture risk of coronary heart disease in women. J Clin Endoc- rinol Metab 2005; 90:5677–83.
  • Şenol S, Tekümit H, Kara M, ve ark. Adiponectin and lep- tin polymorphisms in patients with coronary artery disease Koroner arter hastalarında adiponektin ve leptin polimor- fizmleri. Turk Gogus Kalp Damar 2015;23(4):637-42.
  • Sattar N, Wannamethee G, Sarwar N, et al. Adiponectin and coronary heart disease: a prospective study and metaa- nalysis. Circulation 2007; 115(10):e322.
  • Ko YL, Ko YS, Wang SM, et al. Angiotensinogen and an- giotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese. Hum Genet 1997;100: 210-4.
  • He YH1, Kong WL, Wang G, et al. The calcium-sensing re- ceptor R990G polymorphism is associated with increased risk of hypertriglyceridemia in obese Chinese. Gene 2014; 533(1): 67-71.
  • Babinsky VN, Hannan FM, Youhanna SC, et al. Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphis- ms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients. PLoS One. 2015; 10(3): e0119459.
  • Aslan EI, Aydoğan HY. Koroner kalp hastalarında kalsi- yum-duyarlı reseptör (CASR) gen lokusunda CASR-fonk- siyonunu değiştiren gen varyasyonlarının incelenmesi / Investigating the function-changing genetic variations on the calcium-sensing receptor (CASR) locus in coronary heart disease patients, İstanbul Üniversitesi / Sağlık Bilim- leri Enstitüsü /Moleküler Tıp Anabilim Dalı, Yüksek Lisans 2015 88 s.
There are 39 citations in total.

Details

Primary Language Turkish
Journal Section Original Article
Authors

Kürşat Kargün This is me

Publication Date September 1, 2018
Published in Issue Year 2018 Volume: 28 Issue: 3

Cite

Vancouver Kargün K. CaSR gen polimorfizmin koroner arter hastaların patogenezinde rolünün araştırılması. Genel Tıp Derg. 2018;28(3):121-6.

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