A two-stage, genome-wide screen for susceptibility loci in primary Raynaud's phenomenon

Jane Worthington, Elene Susol, A. J. MacGregor, J. H. Barrett, H. Wilson, Jacqueline Coulston, C. Black, K. Welsh, AJ Silman, WER Ollier

Research output: Contribution to journalArticlepeer-review


OBJECTIVE: To identify chromosomal regions containing genes involved in the susceptibility to primary Raynaud's phenomenon (RP). METHODS: Six extended families with multiple individuals affected with primary RP (n = 37) were examined for linkage in a 2-stage, whole-genome screen, using a total of 298 microsatellite markers. RESULTS: Multipoint, nonparametric linkage analysis identified 5 areas of possible linkage, with a nominal level of significance of P <or = 0.05. Analysis of a finer map of markers in these regions defined the regions of linkage as 21.4 cM on 6q13-6q23.3 (D6S261; P = 0.0004), 10.2 cM on 7p22-7p15 (D7S664; P = 0.014), 1.6 cM on 9p23-9p22 (D9S156; P = 0.0075), 5.1 cM on 17p13.1-17p12 (D17S1791; P = 0.036), and 11.8 cM on Xp11.4-Xp11.23 (DXS8054; P = 0.006). Three potential candidate genes map to these regions: the beta subunit of the muscle acetylcholine receptor and the serotonin 1B and 1E receptors. CONCLUSION: These results provide evidence of the presence and location of genes that are involved in the genetic susceptibility to primary RP
Original languageEnglish
Pages (from-to)1641-1646
Number of pages6
JournalArthritis & Rheumatism
Issue number7
Publication statusPublished - 2000


  • Support,Non-U.S.Gov't


Dive into the research topics of 'A two-stage, genome-wide screen for susceptibility loci in primary Raynaud's phenomenon'. Together they form a unique fingerprint.

Cite this