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


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 ?(ER?), 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. MMP 9 (C1562T), MGP (T138C), and ER ? gene ( Pvu II (rs2234693T?>?C) and Xba I (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 ER? genotypes was seen in two dichotomized groups of CIMT (CIMT?

SUBMITTER: Singh MM 

PROVIDER: S-EPMC5809161 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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

Singh Mable Misha MM   Kumar Ravindra R   Tewari Satyendra S   Agarwal Sarita S  

Journal of pediatric genetics 20171206 1


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  ...[more]

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