Tags

Type your tag names separated by a space and hit enter

Endothelin axis polymorphisms in patients with scleroderma.
Arthritis Rheum. 2006 Sep; 54(9):3034-42.AR

Abstract

OBJECTIVE

To evaluate the distribution of polymorphisms in the endothelin 1 (EDN1), endothelin receptor A (EDNRA) and endothelin receptor B (EDNRB) genes in systemic sclerosis (SSc; scleroderma) and SSc subsets.

METHODS

Two hundred five patients with SSc and 255 healthy controls were screened for polymorphisms in EDN1, EDNRA, and EDNRB, using sequence-specific primer-polymerase chain reaction. The polymorphisms studied were at the following positions: for EDN1, -1370 (T-1370G) of the promoter, +138 of exon 1 (+138 A/-), +85 of exon 3 (E106E), and +23 of exon 5 (K198N); for EDNRA, -231 of exon 1 (G-231A), and +69(H323H) and +105 (E335E) of exon 6; for EDNRB, +2841 of exon 2 (EDNRB-3), -2547 of exon 3 (EDNRB-2), and -2446 of exon 3 (EDNRB-1).

RESULTS

No significant differences between the SSc group as a whole and control subjects were observed for any of the investigated polymorphisms in EDN1, EDNRA, and EDNRB. However, compared with patients with limited cutaneous SSc, patients with diffuse skin involvement had an increased frequency of allele carriage of EDNRB-1A (76.8% versus 54.4%; P = 0.002), EDNRB-2A (79.7% versus 60.2%; P = 0.006), and EDNRB-3G (79.7% versus 56.6%; P = 0.001). Significantly increased carriage frequencies for EDNRA alleles H323H/C and E335E/A were observed in SSc patients with anti-RNA polymerase (anti-RNAP) antibodies, compared with both anti-RNAP-negative SSc patients (P < 0.05) and control subjects (P < 0.005).

CONCLUSION

The finding of associations between endothelin receptors A and B and distinct clinical and immunologic SSc subsets supports the role of endothelin and its receptors in the pathogenesis of SSc. However, these findings and their functional significance need to be confirmed and investigated in future studies.

Authors+Show Affiliations

Royal Free and University College Medical School, Center for Rheumatology and Connective Tissue Diseases, Department of Medicine, University College London Hampstead Campus, Hampstead, London NW3 2PF, UK. c.fonseca@medsch.ucl.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16947775

Citation

Fonseca, Carmen, et al. "Endothelin Axis Polymorphisms in Patients With Scleroderma." Arthritis and Rheumatism, vol. 54, no. 9, 2006, pp. 3034-42.
Fonseca C, Renzoni E, Sestini P, et al. Endothelin axis polymorphisms in patients with scleroderma. Arthritis Rheum. 2006;54(9):3034-42.
Fonseca, C., Renzoni, E., Sestini, P., Pantelidis, P., Lagan, A., Bunn, C., McHugh, N., Welsh, K. I., Du Bois, R. M., Denton, C. P., Black, C., & Abraham, D. (2006). Endothelin axis polymorphisms in patients with scleroderma. Arthritis and Rheumatism, 54(9), 3034-42.
Fonseca C, et al. Endothelin Axis Polymorphisms in Patients With Scleroderma. Arthritis Rheum. 2006;54(9):3034-42. PubMed PMID: 16947775.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Endothelin axis polymorphisms in patients with scleroderma. AU - Fonseca,Carmen, AU - Renzoni,Elizabeth, AU - Sestini,Piersante, AU - Pantelidis,Panagiotis, AU - Lagan,Anna, AU - Bunn,Christopher, AU - McHugh,Neil, AU - Welsh,Ken I, AU - Du Bois,Ron M, AU - Denton,Christopher P, AU - Black,Carol, AU - Abraham,D, PY - 2006/9/2/pubmed PY - 2006/11/10/medline PY - 2006/9/2/entrez SP - 3034 EP - 42 JF - Arthritis and rheumatism JO - Arthritis Rheum VL - 54 IS - 9 N2 - OBJECTIVE: To evaluate the distribution of polymorphisms in the endothelin 1 (EDN1), endothelin receptor A (EDNRA) and endothelin receptor B (EDNRB) genes in systemic sclerosis (SSc; scleroderma) and SSc subsets. METHODS: Two hundred five patients with SSc and 255 healthy controls were screened for polymorphisms in EDN1, EDNRA, and EDNRB, using sequence-specific primer-polymerase chain reaction. The polymorphisms studied were at the following positions: for EDN1, -1370 (T-1370G) of the promoter, +138 of exon 1 (+138 A/-), +85 of exon 3 (E106E), and +23 of exon 5 (K198N); for EDNRA, -231 of exon 1 (G-231A), and +69(H323H) and +105 (E335E) of exon 6; for EDNRB, +2841 of exon 2 (EDNRB-3), -2547 of exon 3 (EDNRB-2), and -2446 of exon 3 (EDNRB-1). RESULTS: No significant differences between the SSc group as a whole and control subjects were observed for any of the investigated polymorphisms in EDN1, EDNRA, and EDNRB. However, compared with patients with limited cutaneous SSc, patients with diffuse skin involvement had an increased frequency of allele carriage of EDNRB-1A (76.8% versus 54.4%; P = 0.002), EDNRB-2A (79.7% versus 60.2%; P = 0.006), and EDNRB-3G (79.7% versus 56.6%; P = 0.001). Significantly increased carriage frequencies for EDNRA alleles H323H/C and E335E/A were observed in SSc patients with anti-RNA polymerase (anti-RNAP) antibodies, compared with both anti-RNAP-negative SSc patients (P < 0.05) and control subjects (P < 0.005). CONCLUSION: The finding of associations between endothelin receptors A and B and distinct clinical and immunologic SSc subsets supports the role of endothelin and its receptors in the pathogenesis of SSc. However, these findings and their functional significance need to be confirmed and investigated in future studies. SN - 0004-3591 UR - https://www.unboundmedicine.com/medline/citation/16947775/Endothelin_axis_polymorphisms_in_patients_with_scleroderma_ L2 - https://doi.org/10.1002/art.22036 DB - PRIME DP - Unbound Medicine ER -