Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation
| Autor: | Shirin Shahbazi, Amir Mashayekhi, Neda Fatahi, Mohammad-Reza Mahdavi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Genotype Observational Study Genome-wide association study Hematocrit Polymerase Chain Reaction Polymorphism Single Nucleotide Hemoglobins ABO blood group system Medicine Humans Genotyping Red blood cell indices Hematologic Tests medicine.diagnostic_test Aquaporin 1 business.industry General Medicine Sequence Analysis DNA Middle Aged Red blood cell medicine.anatomical_structure Phenotype Immunology Blood Group Antigens Female Hemoglobin business Research Article Genome-Wide Association Study |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | Hematological parameters are appraised routinely to determine overall human health and to diagnose and monitor certain diseases. In GWASs, more than 30 loci carrying common deoxyribonucleic acid (DNA) polymorphisms have been identified related to hematological traits. In this study, we investigated the contribution of ABO rs2073823 along with AQP1 rs1049305 and rs10244884 polymorphisms in hematological traits variation in a cohort of Iranian healthy individuals. Genomic DNA was extracted from peripheral blood of 168 healthy volunteer. Genotyping was performed by ARMS-PCR or PCR-RFLP and confirmed by DNA sequencing. Complete blood analyses were conducted for the participants. Significant association was observed between AQP1 rs1049305 and the hematological traits including hemoglobin, hematocrit, and platelet count (P = 0.012, 0.008, and 0.011, respectively). The AQP1 rs10244884 status was also significantly linked to hemoglobin and hematocrit levels in the study cohort (P = 0.015 and 0.041, respectively). Furthermore, ABO rs2073823 polymorphism was identified as a hemoglobin and hematocrit levels modifier (both with P = 0.004). AQP1 and ABO variants appear to predict hemoglobin and hematocrit levels but not other erythrocyte phenotype parameters including red blood cell counts and red blood cell indices. |
| Databáze: | OpenAIRE |
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