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. 2016 Mar 10;27(10):2983–2996. doi: 10.1681/ASN.2015070830

Table 1.

The rs4293393 promoter variant of the UMOD gene

rs4293393 Documented in Archaic Humansa Frequencyb UMOD Expression Urinary Uromodulin Levels GWAS CKD, Hypertension GWAS Kidney Stones Potential Role for UTI Potential Selective Pressure
Ancestral T allele No 0.80 High High Risk (higher >65 yr)c Protective Protective Positive or Neutral
Derived C allele Yes 0.20 Low Low Protective (higher >65 yr)c Risk Deleterious Negative or Neutral
References 19 16,19 1214,17,18,80,81 18
a

Neanderthal and Denisova.

b

1000 Genomes latest release.82

c

Association with renal function significantly higher in individuals over 65 years of age.14