Hemodynamic and Genetic Associations with the Risk of Idiopathic Pulmonary Arterial Hypertension Development in an Ethnic Cohort of Kazakhs

Taizhanova D. Nurpissova T. Abildinova G. Martynyuk T. Kulmyrzayeva N. Zholdybayeva E.
December 2024 Multidisciplinary Digital Publishing Institute (MDPI)

Diagnostics
2024 #14 Issue 23

Introduction: Idiopathic pulmonary arterial hypertension (IPAH) is a progressive and fatal disease. The aim of this study was to evaluate the association of polymorphism of the type 2 bone morphogenetic protein receptor gene (BMPR2) with the risk of IPAH development in an ethnic group of Kazakhs. We also describe the clinical and hemodynamic characteristics and outcomes of patients with and without carriers of BMPR2 gene mutations in IPAH. No available research highlights this problem in an ethnic group of Kazakhs. Materials and methods: A total of 53 patients of only Kazakh nationality with IPAH participated in the study. Clinical, functional, and hemodynamic characteristics, as well as the outcome of the disease, were compared among carriers and non-carriers of the BMPR2 mutation. Results: When receiving IPAH diagnosis, the average age of patients was 40.0 (32.0–48.0) years. Women predominated among the patients (86.8%). Of these, 17 (32.0%) were carriers of the gene mutation, and 36 (68.0%) did not have this mutation. The results of our research demonstrate that the Rs17199249 variant in BMPR2 contributed to increased susceptibility to IPAH. The T allele was associated with an increased risk of IPAH, with T = 75 (70.75%), G = 31 (29.24%), MAF—0.2925, x²—0.001, and HWE p—0.975. Carriers of the BMPR2 mutation were predominantly women (80.0%), and they had higher pulmonary vascular resistance (8.7–14.9 vs. 5.9–12.6 WU; p = 0.038), a low cardiac index (1.9–2.6 vs. 2.3–3.1 L/min per m²; p = 0.027), and a shorter time to death (p = 0.022). Conclusions: This is the first study of the genetic causes of IPAH that demonstrates the genetic polymorphism of BMPR2 is associated with an increased risk of IPAH developing with worse hemodynamic parameters and clinical outcomes.

BMPR2 , genetics , idiopathic pulmonary arterial hypertension

Text of the article Перейти на текст статьи

Department of Internal Diseases, Karaganda Medical University Non-Commercial Joint Stock Company, Karaganda, 100000, Kazakhstan
Department of Therapy No. 7, Medical Center Hospital of the President’s Affairs Administration of the Republic of Kazakhstan, Astana, 010000, Kazakhstan
Laboratory of Personalized Genomic Diagnostics, Medical Center Hospital of the President’s Affairs Administration of the Republic of Kazakhstan, Astana, 010000, Kazakhstan
Institution «National Medical Cardiology Research Center Named After Academician Ye. I. Chazov» of the Ministry of Health of the Russian Federation, Moscow, 105064, Russian Federation
National Scientific Shared Laboratory of Biotechnology, National Center of Biotechnology Limited Liability Partnership, 010000, Astana, Kazakhstan

Department of Internal Diseases
Department of Therapy No. 7
Laboratory of Personalized Genomic Diagnostics
Institution «National Medical Cardiology Research Center Named After Academician Ye. I. Chazov» of the Ministry of Health of the Russian Federation
National Scientific Shared Laboratory of Biotechnology

10 лет помогаем публиковать статьи Международный издатель

Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026