Table 1:
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