The American Journal of Medicine
Volume 118, Issue 8 , Pages 907-911 , August 2005

Polymorphisms of endothelial nitric oxide synthase and angiotensin-converting enzyme in systemic sclerosis

  • Shervin Assassi, MD

      Affiliations

    • Division of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston
    • Corresponding Author InformationRequests for reprints should be addressed to Shervin Assassi, MD, Division of Rheumatology and Clinical Immunogenetics, 6431 Fannin Street, MSB 5.264, Houston, TX 77030.
    • ,
  • Maureen D. Mayes, MD, MPH

      Affiliations

    • Division of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston
    • ,
  • Terry McNearney, MD

      Affiliations

    • Division of Rheumatology, University of Texas Medical Branch
    • ,
  • Michael Fischbach, MD

      Affiliations

    • Division of Rheumatology, University of Texas Health Science Center at San Antonio
    • ,
  • John D. Reveille, MD

      Affiliations

    • Division of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston
    • ,
  • Frank C. Arnett, MD

      Affiliations

    • Division of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston
    • ,
  • Filemon K. Tan, MD, PhD

      Affiliations

    • Division of Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston

References 

  1. Fatini C , Cesini F , Sticchi E , et al.   High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis . Am J Med . 2002;112:540–544
  2. Rigat B , Hubert C , Alhenc-Gelas F , 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 . 1990;86:1343–1346
  3. Hingorani AD , Liang CF , Fatibene J , et al.   A common variant of the endothelial nitric oxide synthase is a major risk factor for coronary artery disease in the UK . Circulation . 1999;100:1515–1520
  4. Wang XL , Sim AS , Wang MX , et al.   Genotype dependent and cigarette specific effects on endothelial nitric oxide synthase gene expression and enzyme activity . FEBS lett . 2000;471:45–50
  5. Reveille JD , Fischbach M , McNearney T , et al.   Systemic sclerosis in three US ethnic groups (a comparison of clinical, sociodemographic, serologic and immunogenetic determinants) . Semin Arthritis Rheum . 2001;30:332–346
  6. Subcommittee for scleroderma criteria of the American Rheumatism Association diagnostic and therapeutic criteria committee . Preliminary criteria for the classification of systemic sclerosis (scleroderma) . Arthritis Rheum . 1980;23:581–590
  7. Rigat B , Hubert C , Corvol P , Soubrier F . PCR detection of the insertion/deletion polymorphism of the human angiotensin-converting enzyme gene (DCP) (depeptidyl carboxypeptidase 1) . Nucl Acids Res . 1992;20:1433
  8. Ribichini F , Steffenino G , Dellavalle A , et al.   Plasma activity and insertion/deletion polymorphism of angiotensin I-converting enzyme. A major risk factor and marker of risk for coronary stent restenosis . Circulation . 1998;97:147–154
  9. Clements P , Lachenbruch P , Seibold J , et al.   Inter- and intraobserver variability of total skin thickness score (modified Rodnan TSS) in systemic sclerosis . J Rheumatol . 1995;22:1281–1285
  10. LeRoy E , Black C , Fleischmajer R , et al.   Scleroderma (systemic sclerosis) (classification, subsets and pathogenesis) . J Rheumatol . 1995;2:202–205
  11. Biondi ML , Marasini B , Leviti S , et al.   Genotyping method for point mutation detection in the endothelial nitric oxide synthase Exon 7 using fluorescent probes. Clinical validation in systemic sclerosis patients . Clin Chem Lab Med . 2001;39:281–282
  12. Allanore Y , Borderie D , Lemarechal H , et al.   Endothelial nitric oxide synthase polymorphism (Glu298Asp) in a French Caucasian cohort of patients with systemic sclerosis . Arthritis Rheum . 2003;48:160; (abstract)
  13. Joung C , kim S , Yun B , et al.   Association of HLA-DRB1, angiotensin-converting enzyme insertion/deletion gene polymorphism with clinical features of systemic sclerosis in Korea . Arthritis Rheum . 2003;48:160; (abstract)
  14. Tan FK . Systemic sclerosis (the susceptible host (genetics and environment)) . Rheumatic Dis Clin N Am . 2003;29:211–237
  15. Cardon LR , Bell JI . Association study designs for complex diseases . Nature Reviews . 2001;2:91–99
  16. Neale BM , Sham PC . The future of association studies (Gene-based analysis and replication) . Am J Hum Genet . 2004;75:353–362
  17. Wacholder S , Rothman N , Caporaso N . Counterpoint (Bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer) . Cancer Epidem Bio Prev . 2002;11:513–520
  18. Thomas DC , Witte JS . Point: Population stratification: A problem for case-control studies of candidate-gene associations? . Cancer Epidem Bio Prev . 2002;11:505–512

 Supported by NIAMS Specialized Center of Research (SCOR) in scleroderma grant (P50AR4448) and University Clinical Research Center grants M01-RR02558 (UTH-HSC), M01-RR00073 (UTMB), M01-RR01346 (UT-SA).

PII: S0002-9343(05)00155-5

doi: 10.1016/j.amjmed.2005.01.055

The American Journal of Medicine
Volume 118, Issue 8 , Pages 907-911 , August 2005

Article Tools