title: Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation.
abstract: 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.
authors.affiliation: From the Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University (SS, AM, M-R M), and Biotechnology Research Center, Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran (NF).
authors.forename: Shirin
authors.initials: S
authors.lastname: Shahbazi
authors.forename: Amir
authors.initials: A
authors.lastname: Mashayekhi
authors.forename: Neda
authors.initials: N
authors.lastname: Fatahi
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Mahdavi
mesh_terms: D000328:Adult; D051398:Aquaporin 1 / Q000235:genetics*; D001789:Blood Group Antigens / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006400:Hematocrit; D006403:Hematologic Tests; D006454:Hemoglobins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C496020:AQP1 protein, human; D001789:Blood Group Antigens; D006454:Hemoglobins; D051398:Aquaporin 1