Sequence variation in the human angiotensin converting enzyme

Mark J. Rieder; Scott L. Taylor; Andrew G. Clark; Deborah A. Nickerson

doi:10.1038/8760

journal article May 01, 1999

Sequence variation in the human angiotensin converting enzyme

Mark J. Rieder Scott L. Taylor Andrew G. Clark

Deborah A. Nickerson

Nature Genetics Vol. 22 No. 1 pp. 59-62 · Springer Science and Business Media LLC

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References

30

[1]

Rigat, B. et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 86, 1343–1346 (1990). 10.1172/jci114844

[2]

Schunkert, H. Polymorphism of the angiotensin-converting enzyme gene and cardiovascular disease. J. Mol. Med. 75, 867– 875 (1997). 10.1007/s001090050178

[3]

Soubrier, F., Nadaud, S. & Williams, T.A. Angiotensin I converting enzyme gene: regulation, polymorphism and implications in cardiovascular diseases. Eur. Heart J. 15, 24–29 ( 1994). 10.1093/eurheartj/15.suppl_d.24

[4]

Evans, A.E. et al. Polymorphisms of the angiotensin-converting-enzyme gene in subjects who die from coronary heart disease. Q. J. Med. 87, 211–214 (1994).

[5]

O'Malley, J.P., Maslen, C.L. & Illingworth, D.R. Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia. Circulation 97, 1780–1783 ( 1998). 10.1161/01.cir.97.18.1780

[6]

O'Donnell, C.J. et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 97, 1766–1772 (1998). 10.1161/01.cir.97.18.1766

[7]

Schächter, F. et al. Genetic associations with human longevity at the APOE and ACE loci. Nature Genet. 6, 29– 32 (1994). 10.1038/ng0194-29

[8]

Harding, R. et al. Archaic African and Asian lineages in the genetic ancestry of modern humans. Am. J. Hum. Genet. 60, 772–789 (1997).

[9]

Wang, D.G. et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077–1082 (1998). 10.1126/science.280.5366.1077

[10]

Variations on a Theme: Cataloging Human DNA Sequence Variation

Francis S. Collins, Mark S. Guyer, Aravinda Chakravarti

Science 1997 10.1126/science.278.5343.1580

[11]

Nachman, M.W., Bauer, V.L., Crowell, S.L. & Aquadro, C.F. DNA variability and recombination rates at X-linked loci in humans. Genetics 150,1133–1141 ( 1998). 10.1093/genetics/150.3.1133

[12]

Hubert, C., Houot, A., Corvol, P. & Soubrier, P. Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. J. Biol. Chem. 266, 15377–15383 (1991). 10.1016/s0021-9258(18)98626-6

[13]

Clark, A.G. Inference of haplotypes from PCR-amplified samples of diploid populations. Mol. Biol. Evol. 7, 111– 122 (1990).

[14]

Batzer, M.A. et al. African origin of human-specific polymorphic Alu insertions. Proc. Natl Acad. Sci. USA 91, 12288– 12292 (1994). 10.1073/pnas.91.25.12288

[15]

Hey, J. Mitochondrial and nuclear genes present conflicting portraits of human origins. Mol. Biol. Evol. 14, 166–172 (1997). 10.1093/oxfordjournals.molbev.a025749

[16]

Clark, A.G. et al. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63, 595–612 (1998). 10.1086/301977

[17]

Zielenski, J. & Tsui, L.C. Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet. 29, 777– 807 (1995). 10.1146/annurev.ge.29.120195.004021

[18]

Scrivner, C.R., Byck, S., Prevost, L. & Hoang, L. in Variation in the Human Genome (ed. Weiss, K.M.) 73–90 (John Wiley & Sons, Chichester, 1996).

[19]

Long, A.D., Lyman, R.F., Langley, C.H. & Mackay, T.F. Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in Drosophila melanogaster. Genetics 149, 999–1017 (1998). 10.1093/genetics/149.2.999

[20]

Montgomery, H.E. et al. Human gene for physical performance. Nature 393, 221–222 (1998). 10.1038/30374

[21]

Sing, C.F., Haviland, M.B., Zerba, K.E. & Templeton, A.R. Application of cladistics to the analysis of genotype-phenotype relationships. Eur. J. Epidemiol. 8 (suppl. 1), 3– 9 (1992). 10.1007/bf00145343

[22]

Keavney, B. et al. Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum. Mol. Genet. 7, 1745– 1751 (1998). 10.1093/hmg/7.11.1745

[23]

Nickerson, D.A. et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19, 233– 240 (1998). 10.1038/907

[24]

Nickerson, D.A., Tobe, V.O. & Taylor, S.L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25, 2745– 2751 (1997). 10.1093/nar/25.14.2745

[25]

Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy Assessment

Brent Ewing, LaDeana Hillier, Michael C. Wendl et al.

Genome Research 1998 10.1101/gr.8.3.175

[26]

Tajima, F. Evolutionary relationship of DNA sequences in finite populations. Genetics 105, 437–460 ( 1983). 10.1093/genetics/105.2.437

[27]

Tajima, F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphisms. Genetics 123, 585–595 (1989). 10.1093/genetics/123.3.585

[28]

Griffiths, R.C. & Tavaré, S. Ancestral inference in population genetics. Stat. Sci. 9, 307–319 (1994). 10.1214/ss/1177010378

[29]

Tavaré, S., Griffiths, R.C. & Donnelly, P. Inferring coalescence times from DNA sequence data. Genetics 145, 505–518 (1997). 10.1093/genetics/145.2.505

[30]

Hudson, R.R. & Kaplan, N.L. Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics 111, 147–164 ( 1985). 10.1093/genetics/111.1.147

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References

Details

Published: May 01, 1999
Vol/Issue: 22(1)
Pages: 59-62
License: View

Authors

Department of Biology, Penn State University, 208 Mueller Lab, University Park, PA 16802, USA.

D

Deborah A. Nickerson

Cite This Article

Mark J. Rieder, Scott L. Taylor, Andrew G. Clark, et al. (1999). Sequence variation in the human angiotensin converting enzyme. Nature Genetics, 22(1), 59-62. https://doi.org/10.1038/8760

Sequence variation in the human angiotensin converting enzyme

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