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Welcome to the Barbara Davis Center for Diabetes at the University of Colorado School of Medicine on the Anschutz Medical Campus in Aurora, Colorado.

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Research Division Faculty


 


Pamela Fain, PhD
Associate Professor of Pediatrics
Director, Human Medical Genetics Program, Genotyping Mutation Screening Core Facility
BioSketch

Genetics of type I diabetes, vitiligo and other autoimmune diseases with an emphasis on determining the relationship of these disorders with each other and with HLA,  and other disease susceptibility genes.

Selected Publications:

Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ,

Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo

M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A,

Spritz RA. Common variants in FOXP1 are associated with generalized vitiligo. Nat

Genet. 42(7):576-8, 2010.

 

 Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM,

Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp

EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K,

van Geel N, Lambert J, Overbeck A, Spritz RA. Variant of TYR and autoimmunity

susceptibility loci in generalized vitiligo. N Engl J Med. 362(18):1686-97, 2010

 

Birlea SA, Gowan K, Fain PR, Spritz RA. Genome-wide association study of

generalized vitiligo in an isolated European founder population identifies SMOC2,

in close proximity to IDDM8. J Invest Dermatol. 130(3):798-803, 2010.

 

Triolo TM, Baschal EE, Armstrong TK, Toews CS, Fain PR, Rewers MJ, Yu L, Miao

D, Eisenbarth GS, Gottlieb PA, Barker JM. Homozygosity of the polymorphism

MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency

among 21-hydroxylase antibody-positive patients with type 1 diabetes. J Clin

Endocrinol Metab. 94(11):4517-23, 2009.

 

Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo

susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J

Invest Dermatol. 130(3):774-83, 2010.

 

Zhang L, Gianani R, Nakayama M, Liu E, Kobayashi M, Baschal E, Yu L, Babu S,

Dawson A, Johnson K, Jahromi M, Aly T, Fain P, Barker J, Rewers M, Eisenbarth GS.

Type 1 diabetes: chronic progressive autoimmune disease. Novartis Found Symp.

292:85-94; discussion 94-8, 122-9, 202-3, 2008.

 

Birlea SA, Laberge GS, Procopciuc LM, Fain PR, Spritz RA. CTLA4 and

generalized vitiligo: two genetic association studies and a meta-analysis of

published data. Pigment Cell Melanoma Res. 22(2):230-4, 2009.

 

Redondo MJ, Jeffrey J, Fain PR, Eisenbarth GS, Orban T. Concordance for islet

autoimmunity among monozygotic twins. N Engl J Med. 359(26):2849-50, 2008.

 

Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W)

functional polymorphism is associated with generalized vitiligo in the Romanian

population. Pigment Cell Melanoma Res. 21(2):206-8, 2008.

 

Birlea SA, Fain PR, Spritz RA. A Romanian population isolate with high

frequency of vitiligo and associated autoimmune diseases. Arch Dermatol. 144(3):310-6, 2008.

 

LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated

with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 128(7):1757-62, 2008.

 

Aly TA, Baschal EE, Jahromi MM, Fernando MS, Babu SR, Fingerlin TE, Kretowski

A, Erlich HA, Fain PR, Rewers MJ, Eisenbarth GS. Analysis of single nucleotide

polymorphisms identifies major type 1A diabetes locus telomeric of the major

histocompatibility complex. Diabetes. 57(3):770-6, 2008.

Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA.
NALP1 in Vitiligo-Associated Multiple Autoimmune Disease.
N Engl J Med, 356:1216-25, 2007.

Jin Y, Birlea SA, Fain PR, Spritz RA.
Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol, 127: 2558-62, 2007.

Ying J, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA. Vitiligo-associated autoimmune disease is not association with genetic variation in AIRE. Pigment Cell Res, 20:402-4, 2007.

Eller E, Vardi P, McFann KK, Babu SR, Yu L, Bugawan TL, Erlich HA, Eisenbarth GS, Fain PR.
Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity.
Genes Immun, 8:628-33, 2007.

Eller E, Vardi P, Babu SR, Bugawan TL, Erlich HA, Yu L, Fain PR.
Celiac disease and HLA in a Bedouin kindred.
Hum Immunol. 2006 Nov;67(11):940-50. Epub 2006 Sep 18.

Bilbao JR, Calvo B, Aransay AM, Martin-Pagola A, Perez de Nanclares G, Aly TA, Rica I, Vitoria JC, Gaztambide S, Noble J, Fain PR, Awdeh ZL, Alper CA, Castano L.
Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.
Genes Immun. 2006 Oct;7(7):550-4. Epub 2006 Aug 24.

Aly TA, Ide A, Jahromi MM, Barker JM, Fernando MS, Babu SR, Yu L, Miao D, Erlich HA, Fain PR, Barriga KJ, Norris JM, Rewers MJ, Eisenbarth GS.
Extreme genetic risk for type 1A diabetes.
Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14074-9. Epub 2006 Sep 11.

Aly TA, Eller E, Ide A, Gowan K, Babu SR, Erlich HA, Rewers MJ, Eisenbarth GS, Fain PR.
Multi-SNP analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotype.
Diabetes. 2006 May;55(5):1265-9.

Fain PR, Babu SR, Bennett DC, Spritz RA.
HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset.
Pigment Cell Res. 2006 Feb;19(1):51-7.

Alkhateeb A, Fain PR, Spritz RA.
Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo.
J Invest Dermatol. 2005 Aug;125(2):388-91.

Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, Fain PR, Spritz RA.
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo.
Pigment Cell Res. 2005 Aug;18(4):300-5.

Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL, Rewers M, Fain PR, Eisenbarth GS.
Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives.
J Clin Immunol. 2005 Jul;25(4):303-8.

Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL, Rewers M, Fain PR, Eisenbarth GS.
"Extended" A1, B8, DR3 haplotype shows remarkable linkage disequilibrium but is similar to nonextended haplotypes in terms of diabetes risk.
Diabetes. 2005 Jun;54(6):1879-83.

Fain PR, McFann KK, Taylor MR, Tison M, Johnson AM, Reed B, Schrier RW.
Modifier genes play a significant role in the phenotypic expression of PKD1.
Kidney Int. 2005 Apr;67(4):1256-67.

Barker JM, Ide A, Hostetler C, Yu L, Miao D, Fain PR, Eisenbarth GS, Gottlieb PA.
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
J Clin Endocrinol Metab. 2005 Jan;90(1):128-34. Epub 2004 Oct 13.

Babu SR, Conant GC, Eller E, Roberts CM, Gowan K, Eisenbarth GS, Fain PR, Vardi P.
A second-generation genome screen for linkage to type 1 diabetes in a Bedouin Arab family.
Ann N Y Acad Sci. 2004 Dec;1037:157-60.

Eller E, Vardi P, Daly MJ, Babu S, Roberts C, Yang F, Eisenbarth GS, Fain PR.
IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family.
Ann N Y Acad Sci. 2004 Dec;1037:145-9.

Redondo MJ, Fain PR, Krischer JP, Yu L, Cuthbertson D, Winter WE, Eisenbarth GS; DPT-1 Study Group.
Expression of beta-cell autoimmunity does not differ between potential dizygotic twins and siblings of patients with type 1 diabetes.
J Autoimmun. 2004 Nov;23(3):275-9.

Spritz RA, Gowan K, Bennett DC, Fain PR.
Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis.
Am J Hum Genet. 2004 Jan;74(1):188-91.

To access a more complete listing of publications, please go to PubMed http://www.ncbi.nlm.nih.gov/PubMed/ and use the search term Barbara Davis Center for Childhood Diabetesor enter individual author names.
Please direct inquiries to specific e-mail addresses listed within individual entries. For all other general Research inquiries, please contact:
kathryn.gray@ucdenver.edu