메뉴 건너뛰기




Volumn 73, Issue 2, 2009, Pages 176-183

Heterogeneous disease modeling for Hardy-Weinberg disequilibrium in case-control studies: Application to renal stones and calcium-sensing receptor polymorphisms

Author keywords

Calcium sensing receptor; Case control study; Disequilibrium; Hardy Weinberg; Heterogeneous disease modeling

Indexed keywords

CALCIUM SENSING RECEPTOR;

EID: 60549086977     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00492.x     Document Type: Article
Times cited : (27)

References (42)
  • 5
    • 0018378042 scopus 로고
    • Familial idiopathic hypercalciuria
    • Coe, F. L., Parks, J. H. & Moore, E. S. (1979) Familial idiopathic hypercalciuria. N Engl J Med 300, 337-340.
    • (1979) N Engl J Med , vol.300 , pp. 337-340
    • Coe, F.L.1    Parks, J.H.2    Moore, E.S.3
  • 6
    • 0001263328 scopus 로고    scopus 로고
    • Calcium excretion is independently associated with the vitamin D receptor (VDR) and calcium-sensing receptor (CASR) polymorphisms in a nephrolithiasis population
    • Cole, D. E., Trang, H. M., Vieth, R., Peltekova, V. D., Pierratos, A., Wong, B. Y., Rubin, L. A. & Hendy, G. N. (1998) Calcium excretion is independently associated with the vitamin D receptor (VDR) and calcium-sensing receptor (CASR) polymorphisms in a nephrolithiasis population. Bone 23 Suppl 1, S248.
    • (1998) Bone , vol.23 , Issue.SUPPL. 1
    • Cole, D.E.1    Trang, H.M.2    Vieth, R.3    Peltekova, V.D.4    Pierratos, A.5    Wong, B.Y.6    Rubin, L.A.7    Hendy, G.N.8
  • 8
    • 0035718923 scopus 로고    scopus 로고
    • Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene
    • Cole, D. E., Vieth, R., Trang, H. M., Wong, B. Y., Hendy, G. N. & Rubin, L. A. (2001) Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Genet Metab 72, 168-174.
    • (2001) Mol Genet Metab , vol.72 , pp. 168-174
    • Cole, D.E.1    Vieth, R.2    Trang, H.M.3    Wong, B.Y.4    Hendy, G.N.5    Rubin, L.A.6
  • 10
    • 6344221588 scopus 로고    scopus 로고
    • Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria
    • Favus, M. J., Karnauskas, A. J., Parks, J. H. & Coe, F. L. (2004) Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. J Clin Endocrinol Metab 89, 4937-4943.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4937-4943
    • Favus, M.J.1    Karnauskas, A.J.2    Parks, J.H.3    Coe, F.L.4
  • 11
    • 9344242934 scopus 로고    scopus 로고
    • Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms
    • Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A. & Borghi, L. (2004) Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms. Am J Kidney Dis 44, 963-986.
    • (2004) Am J Kidney Dis , vol.44 , pp. 963-986
    • Gambaro, G.1    Vezzoli, G.2    Casari, G.3    Rampoldi, L.4    D'Angelo, A.5    Borghi, L.6
  • 12
    • 4444313733 scopus 로고    scopus 로고
    • Standardizing a composite measure of linkage disequilibrium
    • Hamilton, D. C. & Cole, D. E. (2004) Standardizing a composite measure of linkage disequilibrium. Ann Hum Genet 68, 234-239.
    • (2004) Ann Hum Genet , vol.68 , pp. 234-239
    • Hamilton, D.C.1    Cole, D.E.2
  • 13
    • 33744477610 scopus 로고    scopus 로고
    • Approximate variance for a composite measure of linkage disequilibrium
    • Hamilton, D. C., Liu, Q. & Cole, D. E. (2006) Approximate variance for a composite measure of linkage disequilibrium. Ann Hum Genet 70, 535-540.
    • (2006) Ann Hum Genet , vol.70 , pp. 535-540
    • Hamilton, D.C.1    Liu, Q.2    Cole, D.E.3
  • 14
    • 38949189261 scopus 로고    scopus 로고
    • Testing for equality of standardized composite measure of linkage disequilibrium
    • Hamilton, D. C. & Cole, D. E. (2008) Testing for equality of standardized composite measure of linkage disequilibrium. Ann Hum Genet 72, 292-296.
    • (2008) Ann Hum Genet , vol.72 , pp. 292-296
    • Hamilton, D.C.1    Cole, D.E.2
  • 16
    • 0012772816 scopus 로고    scopus 로고
    • Idiopathic hypercalciuria
    • In: 2nd edn. (Eds. Coe, F. L. & Favus, M. J.). Lippincott Williams & Wilkins: Philadelphia
    • Lemann, J. (2002) Idiopathic hypercalciuria. In: Disorders of Bone and Mineral Metabolism, 2nd edn. (Eds. Coe, F. L. & Favus, M. J.). pp. 673-697, Lippincott Williams & Wilkins: Philadelphia.
    • (2002) Disorders of Bone and Mineral Metabolism , pp. 673-697
    • Lemann, J.1
  • 17
    • 34447333156 scopus 로고    scopus 로고
    • Association of vitamin D receptor (Fok I) polymorphism with the clinical presentation of calcium urolithiasis
    • Liu, C. C., Huang, C. H., Wu, W. J., Huang, S. P., Chou, Y. H., Li, C. C., Chai, C. Y. & Wu, M. T. (2007) Association of vitamin D receptor (Fok I) polymorphism with the clinical presentation of calcium urolithiasis. BJU Int 99, 1534-1538.
    • (2007) BJU Int , vol.99 , pp. 1534-1538
    • Liu, C.C.1    Huang, C.H.2    Wu, W.J.3    Huang, S.P.4    Chou, Y.H.5    Li, C.C.6    Chai, C.Y.7    Wu, M.T.8
  • 18
    • 32644467947 scopus 로고    scopus 로고
    • Segregation of urine calcium excretion in families ascertained for nephrolithiasis: Evidence for a major gene
    • Loredo-Osti, J. C., Roslin, N. M., Tessier, J., Fujiwara, T. M., Morgan, K. & Bonnardeaux, A. (2005) Segregation of urine calcium excretion in families ascertained for nephrolithiasis: Evidence for a major gene. Kidney Int 68, 966-971.
    • (2005) Kidney Int , vol.68 , pp. 966-971
    • Loredo-Osti, J.C.1    Roslin, N.M.2    Tessier, J.3    Fujiwara, T.M.4    Morgan, K.5    Bonnardeaux, A.6
  • 19
    • 20544455158 scopus 로고    scopus 로고
    • Genetic hypercalciuria
    • Moe, O. W. & Bonny, O. (2005) Genetic hypercalciuria. J Am Soc Nephrol 16, 729-745.
    • (2005) J Am Soc Nephrol , vol.16 , pp. 729-745
    • Moe, O.W.1    Bonny, O.2
  • 20
    • 4544366160 scopus 로고    scopus 로고
    • The relationship of 3′ vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis
    • Mossetti, G., Rendina, D., Viceconti, R., Manno, G., Guadagno, V., Strazzullo, P. & Nunziata, V. (2004) The relationship of 3′ vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. Nephrol Dial Transplant 19, 2259-2265.
    • (2004) Nephrol Dial Transplant , vol.19 , pp. 2259-2265
    • Mossetti, G.1    Rendina, D.2    Viceconti, R.3    Manno, G.4    Guadagno, V.5    Strazzullo, P.6    Nunziata, V.7
  • 21
    • 0032231375 scopus 로고    scopus 로고
    • Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
    • Nielsen, D. M., Ehm, M. G. & Weir, B. S. (1999) Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 63, 1531-1540.
    • (1999) Am J Hum Genet , vol.63 , pp. 1531-1540
    • Nielsen, D.M.1    Ehm, M.G.2    Weir, B.S.3
  • 22
    • 0035528930 scopus 로고    scopus 로고
    • Association studies under general disease models
    • Nielsen, D. M. & Weir, B. S. (2001) Association studies under general disease models. Theor Popul Biol 60, 253-263.
    • (2001) Theor Popul Biol , vol.60 , pp. 253-263
    • Nielsen, D.M.1    Weir, B.S.2
  • 23
    • 0033790661 scopus 로고    scopus 로고
    • Alleles of the estrogen receptor alpha gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound
    • Patel, M. S., Cole, D. E., Smith, J. D., Hawker, G. A., Wong, B., Trang, H., Vieth, R., Meltzer, P., & Rubin, L. A. (2000) Alleles of the estrogen receptor alpha gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound. J Bone Miner Res 15, 2231-2239.
    • (2000) J Bone Miner Res , vol.15 , pp. 2231-2239
    • Patel, M.S.1    Cole, D.E.2    Smith, J.D.3    Hawker, G.A.4    Wong, B.5    Trang, H.6    Vieth, R.7    Meltzer, P.8    Rubin, L.A.9
  • 24
    • 35748938755 scopus 로고    scopus 로고
    • Health related quality of life differs between male and female stone formers
    • Penniston, K. L. & Nakada, S. Y. (2007) Health related quality of life differs between male and female stone formers. J Urol 178, 2435-2440.
    • (2007) J Urol , vol.178 , pp. 2435-2440
    • Penniston, K.L.1    Nakada, S.Y.2
  • 25
  • 26
    • 0032994727 scopus 로고    scopus 로고
    • Determinants of peak bone mass: Clinical and genetic analyses in a young female Canadian cohort
    • Rubin, L. A., Hawker, G. A., Peltekova, V. D., Fielding, L. J., Ridout, R. & Cole, D. E. (1999) Determinants of peak bone mass: Clinical and genetic analyses in a young female Canadian cohort. J Bone Miner Res 14, 633-643.
    • (1999) J Bone Miner Res , vol.14 , pp. 633-643
    • Rubin, L.A.1    Hawker, G.A.2    Peltekova, V.D.3    Fielding, L.J.4    Ridout, R.5    Cole, D.E.6
  • 28
    • 0032779033 scopus 로고    scopus 로고
    • Nephrolithiasis
    • Scheinman, S. J. (1999) Nephrolithiasis. Semin Nephrol 19, 381-388.
    • (1999) Semin Nephrol , vol.19 , pp. 381-388
    • Scheinman, S.J.1
  • 31
    • 0032952453 scopus 로고    scopus 로고
    • Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation
    • Scott, P., Ouimet, D., Valiquette, L., Guay, G., Proulx, Y., Trouv, M. L., Gagnon, B. & Bonnardeaux, A. (1999) Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. J Am Soc Nephrol 10, 1007-1013.
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1007-1013
    • Scott, P.1    Ouimet, D.2    Valiquette, L.3    Guay, G.4    Proulx, Y.5    Trouv, M.L.6    Gagnon, B.7    Bonnardeaux, A.8
  • 32
    • 0037408101 scopus 로고    scopus 로고
    • Time trends in reported prevalence of kidney stones in the United States: 1976-1994
    • Stamatelou, K. K., Francis, M. E., Jones, C. A., Nyberg, L. M. & Curhan, G. C. (2003) Time trends in reported prevalence of kidney stones in the United States: 1976-1994. Kidney Int 63, 1817-1823.
    • (2003) Kidney Int , vol.63 , pp. 1817-1823
    • Stamatelou, K.K.1    Francis, M.E.2    Jones, C.A.3    Nyberg, L.M.4    Curhan, G.C.5
  • 33
    • 9644273945 scopus 로고    scopus 로고
    • Dietary factors and the risk of incident kidney stones in men: New insights after 14 years of follow-up
    • Taylor, E. N., Stampfer, M. J. & Curhan, G. C. (2004) Dietary factors and the risk of incident kidney stones in men: New insights after 14 years of follow-up. J Am Soc Nephrol 15, 3225-3232.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 3225-3232
    • Taylor, E.N.1    Stampfer, M.J.2    Curhan, G.C.3
  • 34
    • 18244363907 scopus 로고    scopus 로고
    • The calcium-sensing receptor in normal physiology and pathophysiology: A review
    • Tfelt-Hansen, J. & Brown, E. M. (2005) The calcium-sensing receptor in normal physiology and pathophysiology: A review. Crit Rev Clin Lab Sci 42, 35-70.
    • (2005) Crit Rev Clin Lab Sci , vol.42 , pp. 35-70
    • Tfelt-Hansen, J.1    Brown, E.M.2
  • 35
    • 27844543454 scopus 로고    scopus 로고
    • The G protein-coupled receptors: Pharmacogenetics and disease
    • Thompson, M. D., Burnham, W. M. & Cole, D. E. (2005) The G protein-coupled receptors: Pharmacogenetics and disease. Crit Rev Clin Lab Sci 42, 311-392.
    • (2005) Crit Rev Clin Lab Sci , vol.42 , pp. 311-392
    • Thompson, M.D.1    Burnham, W.M.2    Cole, D.E.3
  • 36
    • 0035988247 scopus 로고    scopus 로고
    • Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones
    • Vezzoli, G., Soldati, L., Proverbio, M. C., Adamo, D., Rubinacci, A., Bianchi, G. & Mora, S. (2002a) Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones. J Nephrol 15, 158-164.
    • (2002) J Nephrol , vol.15 , pp. 158-164
    • Vezzoli, G.1    Soldati, L.2    Proverbio, M.C.3    Adamo, D.4    Rubinacci, A.5    Bianchi, G.6    Mora, S.7
  • 39
    • 0003752712 scopus 로고    scopus 로고
    • Sinauer Associates Inc.: Sunderland, MA
    • Weir, B. J. (1996) Genetic Data Analysis II. Sinauer Associates Inc.: Sunderland, MA.
    • (1996) Genetic Data Analysis II
    • Weir, B.J.1
  • 40
    • 18944370235 scopus 로고    scopus 로고
    • Rational inferences about departures from Hardy-Weinberg equilibrium
    • Wittke-Thompson, J., Pluzhnikov, A. & Cox, N. (2005) Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet 76, 967-986.
    • (2005) Am J Hum Genet , vol.76 , pp. 967-986
    • Wittke-Thompson, J.1    Pluzhnikov, A.2    Cox, N.3
  • 41
    • 0036942338 scopus 로고    scopus 로고
    • Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: Hint for genotyping error
    • Xu, J., Turner, A., Little, J., Bleecker, E. R. & Meyers, D. A. (2002) Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: Hint for genotyping error? Hum Genet 111, 573-574.
    • (2002) Hum Genet , vol.111 , pp. 573-574
    • Xu, J.1    Turner, A.2    Little, J.3    Bleecker, E.R.4    Meyers, D.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.