rs1050829

rs1050829 is a SNP within 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 of 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 A to G substitution mutation at the rs1050829 locus (also known as A376G) is associated with reduced production of G6PD enzyme. Other mutations causing G6PD deficiency include; rs1050828. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of both the rs1050829 G allele and the rs1050828 A allele. G6PD deficiency frequency is highest in malarial regions where G6PD deficient individuals are typically less affected by malarial infection (). The minor allele of this SNP should be reclassified as benign according to Study of malaria in Gambian children uses the rs1050829 allele to help detect G6PD deficient individuals. 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 rs105829 G allele were less susceptible to malarial infection (p=0.02). In a G6PD deficient Jordanian clinical population, the A376G allele was found to be at a frequency of 21% in males (n=47) and 9% in females (n=16). Whereas the G6PD deficient G202A/A376G genotype was found to be 19%. Examines the frequency of G6PD deficiency genotypes in African malarial drug clinical trail patients from five different populations (Burkina Faso, Ghana, Kenya, Nigeria, Tanzania, and Mali).

T;T

Resides within the glucose-6-phosphate dehydrogenase (G6PD) gene. The rs1050829 A allele is associated with G6PD 'type B', as well as, the production of 'normal' levels of G6PD enzyme.

C;T

Associated with glucose-6-phosphate dehydrogenase (G6PD) enzyme production. Located on the X chromosome; only females can be heterozygous for both the A (rs1050829(A;A)) and G (rs1050829(G;G)) allele. While the A allele is associated with 'normal' G6PD levels, the G allele is linked to a reduction of G6PD enzyme. Therefore, females who are possess both alleles will vary in G6PD deficiency status.

C;C

Located within the G6PD gene. The G allele is associated with reduced levels of glucose-6-phosphate dehydrogenase production and is therefore linked to G6PD deficiency.