A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population

Kidney International

Volumn 83, Issue 2, 2013, Pages 285-292

  Park, Hansoo ^a,b   Kim, Hyun Jin ^a   Lee, Seungbok ^a   Yoo, Yun Joo ^a   Ju, Young Seok ^a,c   Lee, Jung Eun ^d   Cho, Sung Il ^a   Sung, Joohon ^a   Kim, Jong Il ^a,e,f   Seo, Jeong Sun ^a,c,e,f  

^a Seoul National University   (South Korea)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c Macrogen Inc   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

^e Psoma Therapeutics   (South Korea)

^f Seoul National University College of Medicine   (South Korea)

Author keywords

family based association test; genome wide linkage study; isolated Mongolian population; renal function

Indexed keywords

GLUCOSE;

ADULT; AGE DISTRIBUTION; ARTICLE; BODY MASS; CHROMOSOME 15; CHROMOSOME 9; CONTROLLED STUDY; FEMALE; FRMD3 GENE; GATM GENE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; GLOMERULUS FILTRATION RATE; HUMAN; KIDNEY FUNCTION; MALE; MONGOLIA; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SPATA5L1 GENE; SYSTOLIC BLOOD PRESSURE;

EID: 84873414024     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2012.389     Document Type: Article

References (41)

1. Zhang R, Zheng LQ, Sun ZQ et al. Decreased glomerular filtration rate is associated with mortality and cardiovascular events in patients with hypertension: a prospective study. PloS One 2011; 6.
2. Stevens LA, Coresh J, Greene T et al. Medical progress-assessing kidney function-measured and estimated glomerular filtration rate. New Engl J Med 2006; 354: 2473-2483.
3. Bochud M, Elston RC, Maillard M et al. Heritability of renal function in hypertensive families of African descent in the Seychelles (Indian Ocean). Kidney Int 2005; 67: 61-69.
4. Langefeld CD, Beck SR, Bowden DW et al. Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus. Am J Kidney Dis 2004; 43: 796-800.
5. Arar NH, Voruganti VS, Nath SD et al. A genome-wide search for linkage to chronic kidney disease in a community-based sample: the SAFHS. Nephrol Dial Transplant 2008; 23: 3184-3191.
6. MacCluer JW, Scavini M, Shah VO et al. Heritability of measures of kidney disease among Zuni Indians: The Zuni Kidney Project. Am J Kidney Dis 2010; 56: 289-302.
7. Fox CS, Yang Q, Cupples LA et al. Genomewide linkage analysis to serum creatinine, GFR, and creatinine clearance in a community-based population: the Framingham Heart Study. J Am Soc Nephrol 2004; 15: 2457-2461.
8. Mottl AK, Vupputuri S, Cole SA et al. Linkage analysis of glomerular filtration rate in American Indians. Kidney Int 2008; 74: 1185-1191.
9. Puppala S, Arya R, Thameem F et al. Genotype by diabetes interaction effects on the detection of linkage of glomerular filtration rate to a region on chromosome 2q in Mexican Americans. Diabetes 2007; 56: 2818-2828.
10. Rao M, Mottl AK, Cole SA et al. Meta-analysis of genome-wide linkage scans for renal function traits. Nephrol Dial Transplant 2012; 27: 647-656.
11. Schelling JR, Abboud HE, Nicholas SB et al. Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND). Diabetes 2008; 57: 235-243.
12. Chambers JC, Zhang W, Lord GM et al. Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 2010; 42: 373-375.
13. Kottgen A, Glazer NL, Dehghan A et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 2009; 41: 712-717.
14. Kottgen A, Pattaro C, Boger CA et al. New loci associated with kidney function and chronic kidney disease. Nat Genet 2010; 42: 376-384.
15. Pattaro C, De Grandi A, Vitart V et al. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC Med Genet 2010; 11: 41.
16. Pezzolesi MG, Poznik GD, Mychaleckyj JC et al. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes 2009; 58: 1403-1410.
17. Maeda S, Araki S, Babazono T et al. Replication study for the association between four loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. Diabetes 2010; 59: 2075-2079.
18. Freedman BI, Langefeld CD, Lu L et al. Differential effects of MYH9 and APOL1 risk variants on FRMD3 association with diabetic ESRD in African Americans. PLoS Genet 2011; 7: e1002150.
19. Ju YS, Park H, Lee MK et al. A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study. BMC Genomics 2008; 9: 554.
20. Lee MK, Woo SJ, Kim JI et al. Replication of a glaucoma candidate gene on 5q22.1 for intraocular pressure in mongolian populations: the GENDISCAN Project. Invest Ophthalmol Vis Sci 2010; 51: 1335-1340.
21. Paik SH, Kim HJ, Lee S et al. Linkage and association scan for tanning ability in an isolated Mongolian population. BMB Rep 2011; 44: 741-746.
22. Paik SH, Kim HJ, Son HY et al. Gene mapping study for constitutive skin color in an isolated Mongolian population. Exp Mol Med 2011.
23. Ott J, Kamatani Y, Lathrop M. Family-based designs for genome-wide association studies. Nat Rev Genet 2011; 12: 465-474.
24. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
25. Levey AS, Bosch JP, Lewis JB et al. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 1999; 130: 461-470.
26. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
27. Pattaro C, Aulchenko YS, Isaacs A et al. Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int 2009; 76: 297-306.
28. Liu CT, Garnaas MK, Tin A et al. Genetic association for renal traits among participants of African ancestry reveals new loci for renal function. PLoS Genet 2011; 7: e1002264.
29. Henikoff S, Henikoff JG. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA 1992; 89: 10915-10919.
30. Qiao J, Uzzo R, Obara-Ishihara T et al. FGF-7 modulates ureteric bud growth and nephron number in the developing kidney. Development 1999; 126: 547-554.
31. Kristiansson K, Naukkarinen J, Peltonen L. Isolated populations and complex disease gene identification. Genome Biol 2008; 9: 109.
32. Arcos-Burgos M, Muenke M. Genetics of population isolates. Clin Genet 2002; 61: 233-247.
33. Lake SL, Blacker D, Laird NM. Family-based tests of association in the presence of linkage. Am J Hum Genet 2000; 67: 1515-1525.
34. Laird NM, Lange C. Family-based designs in the age of large-scale gene-association studies. Nat Rev Genet 2006; 7: 385-394.
35. McPeek MS, Sun L. Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet 2000; 66: 1076-1094.
36. Junge W, Wilke B, Halabi A et al. Determination of reference intervals for serum creatinine, creatinine excretion and creatinine clearance with an enzymatic and a modified Jaffe method. Clin Chim Acta 2004; 344: 137-148.
37. Keen KJ, Elston RC. Robust asymptotic sampling theory for correlations in pedigrees. Stat Med 2003; 22: 3229-3247.
38. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998; 62: 1198-1211.
39. Heath SC. Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 1997; 61: 748-760.
40. Lange C, DeMeo D, Silverman EK et al. PBAT: tools for family-based association studies. Am J Hum Genet 2004; 74: 367-369.
41. Borecki IB, Province MA. Genetic and genomic discovery using family studies. Circulation 2008; 118: 1057-1063.