The Impact ofXmnI-HBG2, BCL11Aand HBS1L-MYB Single Nucleotide Polymorphisms on Hb F Variation of Hematologically Normal Iranian Individuals
| Autor: | Masoud Karimlou, Koorosh Kamali, Elham Darabi, Maryam Neishabury, Mahjoobeh Jafari Vesiehsari, Fahimeh Zamani, Elaheh Keyhani, Setareh Talebi Kakroodi |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Multivariate statistics Thalassemia Clinical Biochemistry Population Single-nucleotide polymorphism Iran Biology Polymorphism Single Nucleotide HBG2 03 medical and health sciences Sex Factors Bayesian multivariate linear regression Fetal hemoglobin medicine Humans education Fetal Hemoglobin Genetics (clinical) Genetics education.field_of_study Genes Modifier Biochemistry (medical) Age Factors Genetic Variation Nuclear Proteins Hematology medicine.disease Repressor Proteins Phenotype 030104 developmental biology Regression Analysis Population study Female Carrier Proteins |
| Zdroj: | Hemoglobin. 40:198-201 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269.2016.1160920 |
| Popis: | The impact of Hb F on severity of sickle cell disease and β-thalassemia (β-thal) is well documented. The XmnI-HBG2, BCL11A and HBS1L-MYB single nucleotide polymorphisms (SNPs) have been introduced as the most important factors causing variation in fetal hemoglobin (Hb F) levels in different population studies. However, the extent of their effect could be population-specific. In this study, multivariate linear regression analysis was used to evaluate the association of Hb F with age, sex, and eight SNPs, including XmnI-HBG2, four BCL11A, two HBS1L-MYB SNPs and the polymorphic palindromic 5' hypersensitive 4-locus control region (5'HS4-LCR). One hundred and twenty-two hematologically normal individuals, from a previous study cohort, constituted our study population. In multivariate regression analyses, no association of Hb F was observed with age or sex of the individuals and SNPs in this study. We conducted a univariate regression analysis to further investigate the results, which among all the factors only detected XmnI-HBG2 and 5'HS4 SNPs as significant modifiers of Hb F. The significance of these two factors disappeared in a bivariate analysis. These results suggest that either XmnI-HBG2 or 5'HS4-LCR have a stronger contribution in Hb F variations of the Iranian population than BCL11A and HBS1L-MYB SNPs. Furthermore, the effect of low population size and technical limitations on obtained results could not be ruled out. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |