CYP3A variation and the evolution of salt-sensitivity variants

American Journal of Human Genetics

Volumn 75, Issue 6, 2004, Pages 1059-1069

  Thompson, E E ^a   Kuttab Boulos, H ^a   Witonsky, D ^a   Yang, L ^b   Roe, B A ^b   Di Rienzo, A ^a,c  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF OKLAHOMA   (United States)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARCINOGEN; CYTOCHROME P450 3A; CYTOCHROME P450 3A5; DRUG;

ARTICLE; COMPARATIVE GENOMICS; CYP3A GENE; CYP3A5 GENE; DRUG METABOLISM; DRUG RESPONSE; ENVIRONMENTAL FACTOR; ETHNIC GROUP; GENE; GENE FREQUENCY; GENE SEQUENCE; GENE STRUCTURE; GENETIC RISK; GENETIC VARIABILITY; GENOMICS; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HOMEOSTASIS; HUMAN; HYPERTENSION; INTERPOPULATION DIFFERENCE; LATITUDE; MAJOR CLINICAL STUDY; METABOLISM; NUCLEOTIDE SEQUENCE; PHARMACOGENETICS; PHENOTYPIC VARIATION; POPULATION RESEARCH; PREECLAMPSIA; PRIORITY JOURNAL; SALT HOMEOSTASIS; SALT SENSITIVE HYPERTENSION; SALT SENSITIVITY; SEQUENCE ANALYSIS; SODIUM RETENTION; WATER RETENTION; XENOBIOTIC METABOLISM;

STAPHYLOCOCCUS PHAGE 3A;

EID: 8844271778     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/426406     Document Type: Article

References (45)

1. Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L (2004) Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol 2:E286
2. Akey JM, Zhang G, Zhang K, Jin L, Shriver MD (2002) Interrogating a high-density SNP map for signatures of natural selection. Genome Res 12:1805-1814
3. Ebersberger I, Metzler D, Schwarz C, Pääbo S (2002) Genome-wide comparison of DNA sequences between humans and chimpanzees. Am J Hum Genet 70:1490-1497
4. Fay JC, Wu CI (2000) Hitchhiking under positive Darwinian selection. Genetics 155:1405-1413
5. Frantz AG, Katz FH, Jailer JW (1960) 6-β-hydroxy-cortisol: high levels in human urine in pregnancy and toxemia. Proc Soc Exp Biol Med 105:41-43
6. Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, Di Rienzo A (2001) Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet 69:831-843
7. Frith MC, Li MC, Weng Z (2003) Cluster-Buster: finding dense clusters of motifs in DNA sequences. Nucleic Acids Res 31:3666-3668
8. Fukuen S, Fukuda T, Maune H, Ikenaga Y, Yamamoto I, Inaba T, Azuma J (2002) Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A5*3 and *6, in a Japanese population. Pharmacogenetics 12:331-334
9. Ghosh SS, Basu AK, Ghosh S, Hagley R, Kramer L, Schuetz J, Grogan WM, Guzelian P, Watlington CO (1995) Renal and hepatic family 3A cytochromes P450 (CYP3A) in spontaneously hypertensive rats. Biochem Pharmacol 50:49-54
10. Givens RC, Lin YS, Dowling AL, Thummel KE, Lamba JK, Schuetz EG, Stewart PW, Watkins PB (2003) CYP3A5 genotype predicts renal CYP3A activity and blood pressure in healthy adults. J Appl Physiol 95:1297-1300
11. Gleibermann L (1973) Blood pressure and dietary salt in human populations. Ecol Food Nutr 2:143-156
12. Goodwin B, Hodgson E, Liddle C (1999) The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module. Mol Pharmacol 56:1329-1339
13. Hamblin MT, Thompson EE, Di Rienzo A (2002) Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet 70:369-383
14. Hill WG (1974) Estimation of linkage disequilibrium in randomly mating populations. Heredity 33:229-239
15. Hudson RR (2001) Two-locus sampling distributions and their application. Genetics 159:1805-1817
16. Hudson RR, Bailey K, Skarecky D, Kwiatowski J, Ayala FJ (1994) Evidence for positive selection in the superoxide dismutase (SOD) region of Drosophila melanogaster. Genetics 136:1329-1340
17. Hudson RR, Kreitman M, Aguade M (1987) A test of neutral molecular evolution based on nucleotide data. Genetics 116:153-159
18. Hustert E, Haberl M, Burk O, Wolbold R, He YQ, Klein K, Nuessler AC, Neuhaus P, Klattig J, Eiselt R, Koch I, Zibat A, Brockmoller J, Halpert JR, Zanger UM, Wojnowski L (2001) The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics 11:773-779
19. Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J, Watkins PB, Daly A, Wrighton SA, Hall SD, Maurel P, Relling M, Brimer C, Yasuda K, Venkataramanan R, Strom S, Thummel K, Boguski MS, Schuetz E (2001) Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet 27:383-391
20. Lamba JK, Lin YS, Schuetz EG, Thummel KE (2002a) Genetic contribution to variable human CYP3A-mediated metabolism. Adv Drug Deliv Rev 54:1271-1294
21. Lamba JK, Lin YS, Thummel K, Daly A, Watkins PB, Strom S, Zhang J, Schuetz EG (2002b) Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics 12:121-132
22. Lifton RP, Warnock D, Acton RT, Harman L, Lalouel JM (1993) High prevalence of hypertension-associated angiotensinogen variant T235 in African Americans. Clin Res 260A
23. Luft FC (2001) Molecular genetics of salt-sensitivity and hypertension. Drug Metab Dispos 29:500-504
24. Matsumura K, Saito T, Takahashi Y, Ozeki T, Kiyotani K, Fujieda M, Yamazaki H, Kunitoh H, Kamataki T (2004) Identification of a novel polymorphic enhancer of the human CYP3A4 gene. Mol Pharmacol 65:326-334
25. Nakajima T, Wooding S, Sakagami T, Emi M, Tokunaga K, Tamiya G, Ishigami T, Umemura S, Munkhbat B, Jin F, Guanjun J, Hayasaka I, Ishida T, Saitou N, Pavelka K, Lalouel J-M, Jorde LB, Inoue I (2004) Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet 74:898-916
26. Nebert DW (1997) Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist? Am J Hum Genet 60:265-271
27. Ozdemir V, Kalowa W, Tang BK, Paterson AD, Walker SE, Endrenyi L, Kashuba AD (2000) Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method. Pharmacogenetics 10:373-388
28. Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R, Forrester T, Allison DB, Deka R, Ferrell RE, Shriver MD (1998) Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 63:1839-1851
29. Pennacchio LA, Rubin EM (2001) Genomic strategies to identify mammalian regulatory sequences. Nat Rev Genet 2:100-109
30. Przeworski M (2002) The signature of positive selection at randomly chosen loci. Genetics 160:1179-1189
31. Roe B (2004) Shotgun library construction for DNA sequencing in methods in molecular biology. In: Zhao S, Stodolski M (eds) Bacterial artificial chromosomes, volume 1: library construction, physical mapping, and sequencing, Vol 255: Methods in molecular biology. Humana Press, Totowa, NJ, pp 171-187
32. Rosenberg NA, Li LM, Ward R, Pritchard JK (2003) Informativeness of genetic markers for inference of ancestry. Am J Hum Genet 73:1402-1422
33. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW (2002) Genetic structure of human populations. Science 298:2381-2385
34. Rozas J, Rozas R (1995) DnaSP, DNA sequence polymorphism: an interactive program for estimating population genetics parameters from DNA sequence data. Comput Appl Biosci 11:621-625
35. Russ AP, Maerz W, Ruzicka V, Stein U, Gross W (1993) Rapid detection of the hypertension-associated Met235→Thr allele of the human angiotensinogen gene. Hum Mol Genet 2:609-610
36. Schenkman JB, Thummel KE, Favreau LV (1989) Physiological and pathophysiological alterations in rat hepatic cytochrome P-450. Drug Metab Rev 20:557-584
37. Schuetz EG, Schuetz JD, Grogan WM, Naray-Fejes-Toth A, Fejes-Toth G, Raucy J, Guzelian P, Gionela K, Watlington CO (1992) Expression of cytochrome P450 3A in amphibian, rat, and human kidney. Arch Biochem Biophys 294:206-214
38. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
39. Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595
40. Thomas JW, Prasad AB, Summers TJ, Lee-Lin SQ, Maduro W, Idol JR, Ryan JF, Thomas PJ, McDowell JC, Green ED (2002) Parallel construction of orthologous sequence-ready clone contig maps in multiple species. Genome Res 12:1277-1285
41. Wall JD, Prisse LA, Hudson RR, Di Rienzo A (2003) Comparative linkage-disequilibrium analysis of the β-globin hotspot in primates. Am J Hum Genet 73:1330-1340
42. Ward K, Hata A, Jeunemaitre X, Helin C, Nelson L, Namikawa C, Farrington PF, Ogasawara M, Suzumori K, Tomoda S, Berrebi S, Sasaki M, Corvol P, Lifton RP, Lalouel JM (1993) A molecular variant of angiotensinogen associated with preeclampsia. Nat Genet 4:59-61
43. Watlington CO, Kramer LB, Schuetz EG, Zilai J, Grogan WM, Guzelian P, Gizek F, Schoolwerth AC (1992) Corticosterone 6 β-hydroxylation correlates with blood pressure in spontaneously hypertensive rats. Am J Physiol 262:F927-931
44. Watterson GA (1975) On the number of segregating sites in genetical models without recombination. Theor Popul Biol 7:256-276
45. Wu SJ, Chiang FT, Chen WJ, Liu PH, Hsu KL, Hwang JJ, Lai LP, Lin JL, Tseng CD, Tseng YZ (2004) Three single-nucleotide polymorphisms of the angiotensinogen gene and susceptibility to hypertension: single locus genotype vs. haplotype analysis. Physiol Genomics 17:79-86