J Pediatr Genet 2018; 07(01): 019-022
DOI: 10.1055/s-0037-1608796
Original Article
Georg Thieme Verlag KG Stuttgart · New York

No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

Mable Misha Singh
1  Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
,
Ravindra Kumar
2  Department of Genetics, National Institute for Research in Tribal Health, Jabalpur, Madhya Pradesh, India
,
Satyendra Tewari
3  Department of Cardiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
,
Sarita Agarwal
1  Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
› Author Affiliations
Funding This study was funded by Uttar Pradesh Council of Science and Technology, Uttar Pradesh, India.
Further Information

Publication History

10 August 2017

11 October 2017

Publication Date:
06 December 2017 (eFirst)

Abstract

Regular transfusion leads to cardiac siderosis resulting in cardiac complications that account for more than 71% of the total mortality in thalassemia patients. We aimed to study the variants of matrix metalloproteinase-9 (MMP9), matrix Gla protein (MGP), and estrogen receptor α(ERα), which might be contributing to atherosclerosis, leading to heart failure in thalassemia major. One hundred and five thalassemia patients on regular transfusion and iron chelation therapy were enrolled for the study. Carotid artery intimal medial thickness (CIMT) measurement was done to check for atherosclerosis. MMP9 (C1562T), MGP (T138C), and ERα gene (PvuII (rs2234693T > C) and XbaI (rs9340799A > G) polymorphism were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. CIMT values were within the normal range (<0.90 mm) in all patients. There was no difference in mean CIMT values between males and females (0.56 ± 0.11 versus 0.56 ± 0.12, p = 0.928). There was no correlation of CIMT with age, body surface area, and body mass index as well as with serum ferritin levels. No statistically significant difference in frequency of MMP9, MGP, and ERα genotypes was seen in two dichotomized groups of CIMT (CIMT < 0.56 and CIMT ≥ 0.56). Variants of MMP9, MGP, and ERα have a reserved influence on cardiac disease pathogenesis, and the disease phenotype in thalassemia patients may be more strongly impacted by other factors.

Supplementary Material