rs60910145

This is a variant in the APOL1 gene that changes a isoleucine to an methionine.

▶

GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

calcium metabolic disease, phosphorus metabolism disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.30
p 4.0e-22
N 616,938
Major Consortium StudyLarge GWAS
multi-ancestry

phosphorus metabolism disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.36
p 2.0e-19
N 624,264
Major Consortium StudyLarge GWAS
multi-ancestry

kidney disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.44
p 9.0e-16
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

drug use measurement, kidney disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.40
p 4.0e-13
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

hypertensive heart disease, kidney disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.11
p 4.0e-18
N 112,649
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

kidney failure

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.11
p 6.0e-20
N 113,022
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
▶

ClinVar annotation

Pathogenic★★★☆
8 submitters20 publications

APOL1-associated kidney disease; Focal segmental glomerulosclerosis (FSGS); Focal segmental glomerulosclerosis 4, susceptibility to (FSGS4); Focal segmental glomerulosclerosis, susceptibility to; Glomerulonephritis; Hyalinosis, Segmental Glomerular; Nephrotic range proteinuria; Proteinuria; Sickled erythrocytes; Steroid-resistant nephrotic syndrome; not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
AssociationN=955Shay Tzur et al.(2010)· Human Genetics

Two APOL1 missense mutations (S342G and I384M, rs73885319 and rs60910145) are identified as strongly associated with end-stage kidney disease risk in African and Hispanic American populations, with odds ratios of 2.22-6.7 and p-values as low as 2.38E-08, explaining genetic associations previously attributed to nearby MYH9 variants. The mutations show strong additive inheritance patterns and geographic distribution consistent with African ancestry risk.

Traits studied:End-stage kidney diseaseFocal segmental glomerulosclerosisHIV-associated nephropathyHypertension-affiliated chronic kidney disease
PubMedDOIMetascience Observatory

About APOL1

This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

View all APOL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…