Table 3.

The distribution of UMOD-PDILT SNPs in African and European populations from the 1000 Genomes Project, the African-PREDICT and the PURE cohorts

Locus		Allele frequency			Genotype frequency
		UMOD		PDILT	UMOD		PDILT
Population	N	rs4293393	rs12917707	rs12446492	rs4293393	rs12917707	rs12446492
1000 Genomes Project
Global	2504	T: 80.0%a C: 20.0%	G: 90.2%a T: 9.8%	T: 42.3%a A: 57.7%	TT: 65.1% CT: 29.9% CC: 5.0%	GG: 82.1% GT: 16.1% TT: 1.8%	TT: 20.4% AT: 43.8% AA: 35.8%
African	661	T: 80.7%a C: 19.3%	G: 97.7%a T: 2.3%	T: 50.2%a A: 49.8%	TT: 65.2% CT: 31.0% CC: 3.8%	GG: 95.5% GT: 4.5% TT: 0%	TT: 26.8% AT: 46.9% AA: 26.3%
European	503	T: 79.9%a C: 20.1%	G: 79.9%a T: 20.1%	T: 55.8%a A: 44.2%	TT: 64.4% CT: 31.0% CC: 4.6%	GG: 64.4% GT: 31.0% TT: 4.6%	TT: 32.4% AT: 46.7% AA: 20.9%
African-PREDICT Study
Total population	1202	T: 74.5%a C: 25.5%	G: 88.6%a T: 11.4%	T: 45.5%a A: 53.5%	TT: 55.7% CT: 37.6% CC: 6.7%	GG: 78.6% TG: 20.0% TT: 1.4%	TT: 21.8% TA: 49.4% AA: 28.8%
Black	606	T: 67.5%a C: 32.5%	G: 93.8%a T: 6.2%	T: 37.2%a A: 62.8%	TT: 45.0% CT: 45.0% CC: 10.0%	GG: 87.8% TG: 12.0% TT: 0.2%	TT: 13.0% TA: 48.2% AA: 38.7%
White	596	T: 81.6%a C:18.4%	G: 83.3%a T: 16.7%	T: 55.9%a A: 44.1%	TT: 66.5% CT: 30.1% CC: 3.4%	GG: 69.3% TG: 28.1% TT: 2.6%	TT: 30.5% TA: 50.7% AA: 18.8%
PURE study
Black	1943	T: 66.0%a C: 34.0%	G: 94.4%a T: 5.6%	T: 40.5%a A: 59.5%	TT: 43.6% CT: 44.8% CC: 11.6%	GG: 88.9% TG: 11.0 % TT: 0.1%	TT: 15.1% TA: 50.8% AA: 34.1%

CKD, chronic kidney disease; eGFR, estimated glomerular filtration rate.

For rs4293393, alleles T/C on the reverse strand are reported.

rs4293393 (UMOD), rs12917707 (UMOD), and rs12446492 (PDILT) have been strongly associated with urinary levels of uromodulin, eGFR, and risk of CKD in European cohorts.^8,9,20,21 In these studies, kidney-protective alleles and/or UMOD expression reducing alleles are the European minor alleles rs4293393(C), rs12917707(T), and rs12446492(A).

^aRefers to the European “CKD risk” SNP.