| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
G6PD Type B
|
| (A;G)
|
2.2
|
G6PD Type A/B; possibly benign though
|
| (G;G)
|
2.1
|
G6PD Type A; possibly benign though
|
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 ([PMID 19546473
]).
The minor allele of this SNP should be reclassified as benign according to [PMID 26990548]
[PMID 22438807] Study of malaria in Gambian children uses the rs1050829 allele to help detect G6PD deficient individuals.
[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 rs105829 G allele were less susceptible to malarial infection (p=0.02).
[PMID 22906837] 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%.
[PMID 21849081] 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).
| ClinVar
|
| Risk
|
Rs1050829(G;G) rs1050829(T;T) |
| Alt
|
Rs1050829(G;G) rs1050829(T;T) |
| Reference
|
Rs1050829(A;A) |
| Significance |
Other |
| Disease |
G6PD A+ Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD SANTAMARIA not provided Anemia Favism Susceptibility to malaria not specified |
| Variation | info |
|---|
| Gene |
G6PD |
| CLNDBN |
G6PD A+ Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD SANTAMARIA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency Favism, susceptibility to Susceptibility to malaria not specified |
| Reversed |
1 |
| HGVS |
NC_000023.10:g.153763492T>C |
| CLNSRC |
HGMD OMIM Allelic Variant |
| CLNACC |
RCV000011073.5, RCV000011075.12, RCV000011076.7, RCV000011077.7, RCV000011078.7, RCV000011079.7, RCV000011109.3, RCV000079405.4, RCV000178823.3, RCV000307631.1, RCV000477820.1, RCV000490096.1, |
]).
