|(A;G)||3||G6PD deficiency carrier|
|(G;G)||0||common in clinvar|
rs1050828, also known as c.292G>A, p.Val98Met and V98M as well as the G6PD A- mutation, is a SNP residing in the G6PD gene and is located the X chromosome. G6PD codes for the enzyme glucose-6-phosphate dehydrogenase, which helps protect the cell from oxidative damage. Depending on genotype, an individual may possess one or two primary versions of the G6PD gene; type A and type B. Type A is predominantly found in people who have African ancestry.
Mutations of G6PD can cause varying degrees of G6PD deficiency, which is a disease affecting red blood cells. For example, an G to A substitution mutation at the rs1050828 (also referred to as G202A) is associated with a reduction of G6PD. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of the rs1050828 A allele (rs1050828(A;A)). In addition, individuals who are type A- almost always possess the rs1050829 G allele. G6PD deficiency frequency is highest in malarial regions where G6PD deficient individuals are typically less affected by malarial infection ([PMID 19546473]). Also, the literature suggests that there is association between the rs1050828 locus and various red blood cell traits in African Americans.
|Disease||Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD ASAHI Anemia Favism chlorproguanil and dapsone response - Toxicity/ADR not provided|
|CLNDBN||Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD ASAHI Anemia, nonspherocytic hemolytic, due to G6PD deficiency Favism, susceptibility to chlorproguanil and dapsone response - Toxicity/ADR not provided|
|CLNSRC||HGMD OMIM Allelic Variant PharmGKB Clinical Annotation|
|CLNACC||RCV000011075.12, RCV000011076.7, RCV000011077.7, RCV000011078.7, RCV000011079.7, RCV000011157.2, RCV000079404.6, RCV000178140.1, RCV000211231.1, RCV000224469.1,|
[PMID 20459687] A total of 72 SNPs were genotyped in two populations in eastern Sudan (Hausa and Massalit), as well as, a cohort of malaria hospital patients and a control sample set (n=449). The study found that in comparison to controls (n=69), Massalit individuals (n=60) who possess the rs105828 A allele were less susceptible to malarial infection (P=0.04).
[PMID 21153663] Study surveyed 49,094 SNPs (covering ~2,100 candidate genes)in Caucasian (n=23,439) and African American (n=7,112) individuals from five different population cohorts. Genome wide association results include that rs1050828 A allele found in African American individuals is strongly associated with certain erythrocyte phenotypes including; lower red blood cell, hemoglobin and hematocrit counts (all p values <2.0 x 10 -13).
[PMID 23446634] In order to identify SNPs associated with different red blood cell phenotypic traits a genome-wide association study was conducted on African Americans (n=16,500). The SNP rs1050828 was found to be associated with hemoglobin (Hgb), hematocrit (Hct), mean corpuscular volume (MCV), and RBC count.
[PMID 23696099] A cohort of African American medical patients (n=1904) was analyzed in a genome-wide association study where loci were correlated with certain red blood cell traits. The rs1050828 locus is associated with RBC count (P=4x10-13), mean corpuscular volume (P=1x10-14), and mean corpuscular hemoglobin (P=9x10-9).
|qualified_impact||Insufficiently evaluated not reviewed|
|Trait||Red blood cell traits|
|Title||Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.|
|Odds Ratio||.20 [0.14-0.26] x10^12/L decrease|
[PMID 23614351] The genetic risk of acute seizures in African children with falciparum malaria.