Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2

Asem Alkhateeb, Gary L. Stetler, William Old, Janet Talbert, Cynthia Uhlhorn, Melanie Taylor, Angela Fox, Cynthia Miller, Diana G. Dills, E. Chester Ridgway, Dorothy C. Bennett, Pamela R. Fain, Richard A. Spritz

Research output: Contribution to journalArticle

101 Citations (Scopus)

Abstract

Generalized vitiligo is a common autoimmune disorder in which patchy loss of skin and hair pigmentation results from loss of pigment-forming melanocytes from the involved regions. Vitiligo occurs with a frequency of about 1% in most populations, and is highly associated with other autoimmune disorders, particularly Hashimoto thyroiditis. Most cases of vitiligo are sporadic, although some cases cluster in families, and the disorder is thought to be oligogenic in origin. We have studied a large family cluster in which vitiligo and Hashimoto thyroiditis occur in numerous individuals. A whole-genome scan of 24 family members, including 14 affected with autoimmune disease, showed significant linkage of an oligogenic autoimmune susceptibility locus, termed AIS1, to a 14.4 cM interval in 1p31.3-p32.2. A two-locus analysis of Hashimoto thyroiditis in family members segregating an AIS1 susceptibility allele showed suggestive linkage to markers in chromosome 6p22.3-q14.1, in a region spanning both the major histocompatibility complex and AITD1, a susceptibility locus for autoimmune thyroid disease. Our results indicate that the 1p AIS1 locus is associated with susceptibility to autoimmunity, particularly vitiligo, in this family, and that a chromosome 6 locus, most likely AITD1, may mediate the occurrence of Hashimoto's thyroiditis in AIS1-susceptible family members.

Original languageEnglish
Pages (from-to)661-667
Number of pages7
JournalHuman Molecular Genetics
Volume11
Issue number6
Publication statusPublished - 15 Mar 2002
Externally publishedYes

Fingerprint

Vitiligo
Autoimmunity
Hashimoto Disease
Chromosomes
Autoimmune Diseases
Skin Pigmentation
Chromosomes, Human, Pair 6
Melanocytes
Alopecia
Thyroid Diseases
Major Histocompatibility Complex
Genetic Markers
Alleles
Genome
Population

ASJC Scopus subject areas

  • Genetics

Cite this

Alkhateeb, A., Stetler, G. L., Old, W., Talbert, J., Uhlhorn, C., Taylor, M., ... Spritz, R. A. (2002). Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Human Molecular Genetics, 11(6), 661-667.

Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. / Alkhateeb, Asem; Stetler, Gary L.; Old, William; Talbert, Janet; Uhlhorn, Cynthia; Taylor, Melanie; Fox, Angela; Miller, Cynthia; Dills, Diana G.; Ridgway, E. Chester; Bennett, Dorothy C.; Fain, Pamela R.; Spritz, Richard A.

In: Human Molecular Genetics, Vol. 11, No. 6, 15.03.2002, p. 661-667.

Research output: Contribution to journalArticle

Alkhateeb, A, Stetler, GL, Old, W, Talbert, J, Uhlhorn, C, Taylor, M, Fox, A, Miller, C, Dills, DG, Ridgway, EC, Bennett, DC, Fain, PR & Spritz, RA 2002, 'Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2', Human Molecular Genetics, vol. 11, no. 6, pp. 661-667.
Alkhateeb A, Stetler GL, Old W, Talbert J, Uhlhorn C, Taylor M et al. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Human Molecular Genetics. 2002 Mar 15;11(6):661-667.
Alkhateeb, Asem ; Stetler, Gary L. ; Old, William ; Talbert, Janet ; Uhlhorn, Cynthia ; Taylor, Melanie ; Fox, Angela ; Miller, Cynthia ; Dills, Diana G. ; Ridgway, E. Chester ; Bennett, Dorothy C. ; Fain, Pamela R. ; Spritz, Richard A. / Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. In: Human Molecular Genetics. 2002 ; Vol. 11, No. 6. pp. 661-667.
@article{c96f67676d094aefa0be005716533371,
title = "Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2",
abstract = "Generalized vitiligo is a common autoimmune disorder in which patchy loss of skin and hair pigmentation results from loss of pigment-forming melanocytes from the involved regions. Vitiligo occurs with a frequency of about 1{\%} in most populations, and is highly associated with other autoimmune disorders, particularly Hashimoto thyroiditis. Most cases of vitiligo are sporadic, although some cases cluster in families, and the disorder is thought to be oligogenic in origin. We have studied a large family cluster in which vitiligo and Hashimoto thyroiditis occur in numerous individuals. A whole-genome scan of 24 family members, including 14 affected with autoimmune disease, showed significant linkage of an oligogenic autoimmune susceptibility locus, termed AIS1, to a 14.4 cM interval in 1p31.3-p32.2. A two-locus analysis of Hashimoto thyroiditis in family members segregating an AIS1 susceptibility allele showed suggestive linkage to markers in chromosome 6p22.3-q14.1, in a region spanning both the major histocompatibility complex and AITD1, a susceptibility locus for autoimmune thyroid disease. Our results indicate that the 1p AIS1 locus is associated with susceptibility to autoimmunity, particularly vitiligo, in this family, and that a chromosome 6 locus, most likely AITD1, may mediate the occurrence of Hashimoto's thyroiditis in AIS1-susceptible family members.",
author = "Asem Alkhateeb and Stetler, {Gary L.} and William Old and Janet Talbert and Cynthia Uhlhorn and Melanie Taylor and Angela Fox and Cynthia Miller and Dills, {Diana G.} and Ridgway, {E. Chester} and Bennett, {Dorothy C.} and Fain, {Pamela R.} and Spritz, {Richard A.}",
year = "2002",
month = "3",
day = "15",
language = "English",
volume = "11",
pages = "661--667",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "6",

}

TY - JOUR

T1 - Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2

AU - Alkhateeb, Asem

AU - Stetler, Gary L.

AU - Old, William

AU - Talbert, Janet

AU - Uhlhorn, Cynthia

AU - Taylor, Melanie

AU - Fox, Angela

AU - Miller, Cynthia

AU - Dills, Diana G.

AU - Ridgway, E. Chester

AU - Bennett, Dorothy C.

AU - Fain, Pamela R.

AU - Spritz, Richard A.

PY - 2002/3/15

Y1 - 2002/3/15

N2 - Generalized vitiligo is a common autoimmune disorder in which patchy loss of skin and hair pigmentation results from loss of pigment-forming melanocytes from the involved regions. Vitiligo occurs with a frequency of about 1% in most populations, and is highly associated with other autoimmune disorders, particularly Hashimoto thyroiditis. Most cases of vitiligo are sporadic, although some cases cluster in families, and the disorder is thought to be oligogenic in origin. We have studied a large family cluster in which vitiligo and Hashimoto thyroiditis occur in numerous individuals. A whole-genome scan of 24 family members, including 14 affected with autoimmune disease, showed significant linkage of an oligogenic autoimmune susceptibility locus, termed AIS1, to a 14.4 cM interval in 1p31.3-p32.2. A two-locus analysis of Hashimoto thyroiditis in family members segregating an AIS1 susceptibility allele showed suggestive linkage to markers in chromosome 6p22.3-q14.1, in a region spanning both the major histocompatibility complex and AITD1, a susceptibility locus for autoimmune thyroid disease. Our results indicate that the 1p AIS1 locus is associated with susceptibility to autoimmunity, particularly vitiligo, in this family, and that a chromosome 6 locus, most likely AITD1, may mediate the occurrence of Hashimoto's thyroiditis in AIS1-susceptible family members.

AB - Generalized vitiligo is a common autoimmune disorder in which patchy loss of skin and hair pigmentation results from loss of pigment-forming melanocytes from the involved regions. Vitiligo occurs with a frequency of about 1% in most populations, and is highly associated with other autoimmune disorders, particularly Hashimoto thyroiditis. Most cases of vitiligo are sporadic, although some cases cluster in families, and the disorder is thought to be oligogenic in origin. We have studied a large family cluster in which vitiligo and Hashimoto thyroiditis occur in numerous individuals. A whole-genome scan of 24 family members, including 14 affected with autoimmune disease, showed significant linkage of an oligogenic autoimmune susceptibility locus, termed AIS1, to a 14.4 cM interval in 1p31.3-p32.2. A two-locus analysis of Hashimoto thyroiditis in family members segregating an AIS1 susceptibility allele showed suggestive linkage to markers in chromosome 6p22.3-q14.1, in a region spanning both the major histocompatibility complex and AITD1, a susceptibility locus for autoimmune thyroid disease. Our results indicate that the 1p AIS1 locus is associated with susceptibility to autoimmunity, particularly vitiligo, in this family, and that a chromosome 6 locus, most likely AITD1, may mediate the occurrence of Hashimoto's thyroiditis in AIS1-susceptible family members.

UR - http://www.scopus.com/inward/record.url?scp=18344388283&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18344388283&partnerID=8YFLogxK

M3 - Article

VL - 11

SP - 661

EP - 667

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 6

ER -