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. Author manuscript; available in PMC: 2024 Feb 17.
Published in final edited form as: Semin Nephrol. 2023 Feb 17;42(5):151314. doi: 10.1016/j.semnephrol.2023.151314

Table 1:

Discovery studies of genetics of CKD from populations with ancestries in resource poor regions of the World

Study Population Method Phenotype Loci/gene
Jarolim et al. Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11022–6. South East Asia Cases: 30
Controls: 30
Positional cloning Distal RTA and ovalocytosis syndrome SLC4A1
Kopp et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008 Oct;40(10):1175–84. African American Cases: 190
Controls: 222
MALD FSGS
ESKD
MYH9
Kao et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet. 2008 Oct;40(10):1185–92. African American Cases: 1372
Controls: 806
MALD Non-diabetic ESKD MYH9
Genovese et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010 Aug 13;329(5993):841–5. African American Cases: 205
Controls: 180
Fine mapping of MYH9 locus FSGS
ESKD
APOL1
Woo et al. Parallel genotyping of 10,204 single nucleotide polymorphisms to screen for susceptible genes for IgA nephropathy. Ann Acad Med Singap. 2009 Oct;38(10):894–9. South East Asian Cases: 28
Controls: 13
GWAS IgA Nephropathy GCM1 TNR TRDN
Nanayakkara et al. An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka. J Occup Health. 2014;56(1):28–38. South Asian Cases: 311
Controls: 504
GWAS CKD of unknown etiology SLC13A3
Gbadegesin et al. HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2015 Jul;26(7):1701–10 South Asian Cases: 214
Controls: 149
Exome association study Childhood steroid Sensitive nephrotic syndrome HLA-DQA1
Pungsrinont et al. Association between intelectin-1 variation and human kidney stone disease in northeastern Thai population. Urolithiasis. 2021 Dec;49(6):521–532 South East Asian Cases: 105
Controls: 105
GWAS Kidney stone ITLN1
Fatumo et al. Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans. Hum Mol Genet. 2021 Jul 28;30(16):1559–1568. African Cases: 3,288
Controls: 8,224
GWAS eGFR GATM

Table showing the major discovery studies of genetic studies from resource poor regions of the world. RTA: renal tubular acidosis, GWAS-genome wide association studies, APOL1-ApoliporotienL1, egfr-estimated glomerular filtration rare, FSGS- focal sclerosing glomerulosclerosis. IgA-Immunoglobulin