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APOL1

From SNPedia
is agene
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EntrezGene8542
PheGenI8542
VariationViewer8542
ClinVarAPOL1
GeneCardsAPOL1
dbSNP8542
DiseasesAPOL1
SADR8542
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wikipediaAPOL1
googleAPOL1
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EVSAPOL1
HEFalMpAPOL1
MyGene2APOL1
23andMeAPOL1
# SNPs9
 Max MagnitudeChromosome positionSummary
rs12106505036,259,617
rs136161036,261,386
rs136175036,265,520
rs136176036,265,600
rs2239785036,265,284
rs4419330036,262,809
rs609101455.536,265,988
rs717853135.536,266,000
rs738853195.536,265,860

Two APOL1 alleles have been shown to be strongly associated with focal segmental glomerulosclerosis and end-stage renal disease in African Americans, Hispanic Americans and in individuals of African descent. The APOL1 G1 allele, defined by the derived alleles of coding SNPs rs73885319 (p.S342G) and rs60910145 (p.I384M), and the APOL1 G2 allele, defined by the derived allele for indel rs71785313 (p.NYK388K). [PMID 20647424OA-icon.png] and [PMID 20635188OA-icon.png].

Customers of 23andMe can use the presence of the A allele for coding SNP rs2239785 (p.E150K) or the presence of the G allele for coding SNP rs136175 (p.M228I) or coding SNP rs136176 (p.R255K) to exclude the presence of alleles G1 and G2, although absence of these alleles does not imply presence of either G1 or G2. Furthermore, presence of the T allele for SNP rs4419330 excludes the presence of allele G2 and presence of the C allele for SNP rs4419330 excludes the presence of allele G1.

In 2017, a study of US African-Americans addressed the question of why only about half of the 15 to 20 percent of blacks carrying G1 and G2 mutations actually go on to develop chronic kidney disease. They concluded that high plasma levels of a certain protein, soluble urokinase plasminogen activator receptor (suPAR), predicted the individuals at higher risk, and that smoking, weight gain and even frequent infections can add up and send suPAR to high levels. Weight loss and smoking cessation can help bring levels down, but once elevated, suPAR may not recede to a healthy level again, so individuals carrying G1 and G2 mutations should aim to live a healthy life to keep suPAR levels low.[PMID 28650456OA-icon.png]