Page 139 - The Vasculitides, Volume 1: General Considerations and Systemic Vasculitis

Genetic Aspects of Vasculitis 115

[126] Griffith, M. E., Lovegrove, J. U., Gaskin, G., Whitehouse, D. B., Pusey, C. D. C-
antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with
the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity
with the S allele. Nephrol. Dial. Transplant. 1996; 11:438-443.

[127] Savige, J. A., Chang, L., Cook, L., et al. Alpha 1-antitrypsin deficiency and anti-
proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated
systemic vasculitis. Clin. Exp. Immunol. 1995; 100:194-197.

[128] Baslund, B., Szpirt, W., Eriksson, S., et al. Complexes between proteinase 3, alpha 1-
antitrypsin and proteinase 3 anti-neutrophil cytoplasm autoantibodies: a comparison
between alpha 1-antitrypsin PiZ allele carriers and non-carriers with Wegener's
granulomatosis. Eur. J. of Clin. Invest. 1996; 26:786-792.

[129] Borgmann, S., Endisch, G., Urban, S., et al. A linkage disequilibrium between genes at
the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with
Wegener's granulomatosis. Clin. Immunol. 2001; 98:244-248.

[130] Callea, F., Gregorini, G., Sinico, A., et al. alpha 1-Antitrypsin (AAT) deficiency and
ANCA-positive systemic vasculitis: genetic and clinical implications. Eur. J. Clin.
Invest. 1997; 27:696-702.

[131] Lhotta, K., Vogel, W., Meisl, T., et al. Alpha 1-antitrypsin phenotypes in patients with
anti-neutrophil cytoplasmic antibody-positive vasculitis. Clin. Sci. (Lond.) 1994; 87:
693-695.

[132] Carr, E. J., Niederer, H. A., Williams, J., et al. Confirmation of the genetic association
of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Med. Genet. 2009; 10:
121.

[133] Jagiello, P., Aries, P., Arning, L., et al. The PTPN22 620W allele is a risk factor for
Wegener's granulomatosis. Arthritis Rheum. 2005; 52:4039-4043.

[134] Martorana, D., Maritati, F., Malerba, G., et al. PTPN22 R620W polymorphism in the
ANCA-associated vasculitides. Rheumatology (Oxford) 2012; 51:805-812.

[135] Steiner, K., Moosig, F., Csernok, E., et al. Increased expression of CTLA-4 (CD152) by
T and B lymphocytes in Wegener's granulomatosis. Clin. Exp. Immunol. 2001; 126:
143-150.

[136] Kamesh, L., Heward, J. M., Williams, J. M., et al. CT60 and +49 polymorphisms of
CTLA 4 are associated with ANCA-positive small vessel vasculitis. Rheumatology
(Oxford) 2009; 48:1502-1505.

[137] Slot, M. C., Sokolowska, M. G., Savelkouls, K. G., et al. Immunoregulatory gene
polymorphisms are associated with ANCA-related vasculitis. Clin. Immunol. 2008;
128:39-45.

[138] Zhou, Y., Huang, D., Paris, P. L., et al. An analysis of CTLA-4 and proinflammatory
cytokine genes in Wegener's granulomatosis. Arthritis Rheum. 2004; 50:2645-2650.

[139] Giscombe, R., Wang, X., Huang, D., et al. Coding sequence 1 and promoter single
nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. J.
Rheumatol. 2002; 29:950-953.

[140] Huang, D., Giscombe, R., Zhou, Y., et al. Polymorphisms in CTLA-4 but not tumor
necrosis factor-alpha or interleukin 1beta genes are associated with Wegener's
granulomatosis. J. Rheumatol. 2000; 27:397-401.

Complimentary Contributor Copy