Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease

Blood
Allison Ashley-KochMarilyn J Telen

Abstract

Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed association analysis with 297 single nucleotide polymorphisms (SNPs) in 49 candidate genes in patients with sickle cell anemia (Hb SS) who had been screened for pHTN by echocardiography (n = 111). Evidence of association was primarily identified for genes in the TGFbeta superfamily, including activin A receptor, type II-like 1 (ACVRL1), bone morphogenetic protein receptor 2 (BMPR2), and bone morphogenetic protein 6 (BMP6). The association of pHTN with ACVRL1 and BMPR2 corroborates the previous association of these genes with primary pHTN. Moreover, genes in the TGFbeta pathway have been independently implicated in risk for several sickle cell complications, suggesting that this gene pathway is important in overall sickle cell pathophysiology. Genetic variation in the beta-1 adrenergic receptor (ADRB1) was also associated with pHTN in our dataset. A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as inde...Continue Reading

References

Jun 9, 1994·The New England Journal of Medicine·O S PlattP P Klug
Sep 15, 1994·The American Journal of Cardiology·L L SuttonJ F Lewis
Dec 1, 1996·Hematology/oncology Clinics of North America·O Castro
Apr 11, 2003·The New England Journal of Medicine·Alan N Schechter, Mark T Gladwin
Oct 9, 2003·British Journal of Haematology·Elizabeth A ManciUNKNOWN Investigators of the Cooperative Study of Sickle Cell Disease
Feb 27, 2004·The New England Journal of Medicine·Mark T GladwinFrederick P Ognibene
Jun 15, 2004·Journal of the American College of Cardiology·John H NewmanGregory Elliott
Sep 11, 2004·The European Respiratory Journal·K E RobertsJ H Morse
Oct 27, 2004·The American Journal of Medicine·Kenneth I AtagaEugene P Orringer
Mar 22, 2005·Nature Genetics·Paola SebastianiMartin H Steinberg
Jul 7, 2005·JAMA : the Journal of the American Medical Association·Claudia R MorrisMark T Gladwin
Dec 13, 2005·Annals of the New York Academy of Sciences·Claudia R MorrisElliott P Vichinsky
May 10, 2006·British Journal of Haematology·Vikki G NolanMartin H Steinberg
Jun 29, 2006·British Journal of Haematology·Kenneth I AtagaEugene P Orringer
Aug 4, 2006·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Adeboye H AdewoyeMartin H Steinberg
Apr 6, 2007·British Journal of Haematology·Laine ElliottMarilyn J Telen
Aug 29, 2007·American Journal of Hematology·Laura M De CastroMarilyn J Telen

❮ Previous
Next ❯

Citations

Mar 14, 2013·Seminars in Thrombosis and Hemostasis·Min Luo, Katherine A Hajjar
Jun 9, 2012·American Journal of Respiratory and Critical Care Medicine·Ankit A DesaiRoberto F Machado
Dec 2, 2011·BMC Cancer·Kevin L Bennewith, Shoukat Dedhar
Oct 5, 2011·Hemoglobin·Swee Lay Thein
Nov 19, 2010·Expert Review of Hematology·Kleber Yotsumoto Fertrin, Fernando Ferreira Costa
Mar 5, 2014·Hematology/oncology Clinics of North America·Carolyn C Hoppe
Aug 11, 2015·American Journal of Hematology·Caterina P Minniti, Gregory J Kato
Jul 8, 2009·Clinical Biochemistry·Nicola Conran, Fernando F Costa
May 30, 2012·American Journal of Hematology·Martin H Steinberg, Paola Sebastiani
Apr 26, 2012·British Journal of Haematology·Ersi VoskaridouEvangelos Terpos
Jun 2, 2011·American Journal of Hematology·Nambirajan SundaramPunam Malik
Jun 26, 2010·Journal of Cellular Physiology·Idowu Akinsheye, Elizabeth S Klings
Sep 28, 2010·American Journal of Hematology·Caterina P MinnitiSamir K Ballas
Dec 21, 2013·British Journal of Haematology·Monika StollUlrike Nowak-Göttl
Jul 29, 2015·BMC Medical Genomics·Duyen A Ngo, Martin H Steinberg
Jun 14, 2013·Clinical & Developmental Immunology·Zohreh Tatari-CalderoneStanislav Vukmanovic
Mar 5, 2016·Experimental Biology and Medicine·Alawi Habara, Martin H Steinberg
Oct 26, 2016·American Journal of Respiratory and Critical Care Medicine·Silin SaMarlene Rabinovitch
Dec 20, 2016·The British Journal of Dermatology·P SenetJ Gellen-Dautremer
Apr 12, 2018·Annual Review of Genomics and Human Genetics·Thomas N Williams, Swee Lay Thein
Sep 19, 2018·Analytical Sciences : the International Journal of the Japan Society for Analytical Chemistry·Sumaira NishatSadia Zafar Bajwa
Apr 26, 2019·Journal of Cellular Biochemistry·Fang-Fang LiuKe Li
Aug 19, 2017·Expert Review of Hematology·Natalie R Shilo, Claudia R Morris
Apr 5, 2018·Clinical Hemorheology and Microcirculation·Alicia K ChangVivien A Sheehan
Mar 17, 2020·Frontiers in Physiology·Plamen BokovChristophe Delclaux

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.