Genetic Variations in NALP1 Are Associated with Generalized Vitiligo in a Romanian Population

Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. In Caucasian families from the United States of America and United Kingdom, susceptibility to generalized vitiligo a...

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Published in:	Journal of investigative dermatology Vol. 127; no. 11; pp. 2558 - 2562
Main Authors:	Jin, Ying, Birlea, Stanca A., Fain, Pamela R., Spritz, Richard A.
Format:	Journal Article
Language:	English
Published:	Danvers, MA Elsevier Inc 01-11-2007 Nature Publishing Elsevier Limited
Subjects:	Adaptor Proteins, Signal Transducing - genetics Adult Aged Apoptosis Regulatory Proteins - genetics Biological and medical sciences Case-Control Studies Dermatology Female Gene Frequency - genetics Genetic Predisposition to Disease - genetics Genotype Humans Male Medical sciences Middle Aged Odds Ratio Pigmentary diseases of the skin Polymorphism, Single Nucleotide - genetics Romania Vitiligo - ethnology Vitiligo - genetics Romania Human Skin disease Vitiligo Pigmentation disorder Association Genetic variability Dermatology Genotype Population Generalized Polymorphism
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Abstract	Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. In Caucasian families from the United States of America and United Kingdom, susceptibility to generalized vitiligo and associated autoimmune diseases is genetically associated with variants of NALP1, encoding NACHT leucine-rich repeat protein 1. Here, we describe a population-based case–control association analysis of single-nucleotide polymorphisms (SNPs) distributed through the NALP1 region in Caucasian generalized vitiligo patients and controls from Romania. This study confirms genetic association of generalized vitiligo with variation in NALP1, which contains at least two independent risk signals, one tagged by SNP rs6502867 and another tagged by SNPs rs2670660 and rs8182352. Individuals carrying high-risk alleles of both rs6502867 and rs2670660 had an odds ratio of 4.20 compared with individuals carrying a high-risk allele from only one signal. These findings support the involvement of NALP1 in predisposition to generalized vitiligo.
AbstractList	Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. In Caucasian families from the United States of America and United Kingdom, susceptibility to generalized vitiligo and associated autoimmune diseases is genetically associated with variants of NALP1, encoding NACHT leucine-rich repeat protein 1. Here, we describe a population-based case–control association analysis of single-nucleotide polymorphisms (SNPs) distributed through the NALP1 region in Caucasian generalized vitiligo patients and controls from Romania. This study confirms genetic association of generalized vitiligo with variation in NALP1, which contains at least two independent risk signals, one tagged by SNP rs6502867 and another tagged by SNPs rs2670660 and rs8182352. Individuals carrying high-risk alleles of both rs6502867 and rs2670660 had an odds ratio of 4.20 compared with individuals carrying a high-risk allele from only one signal. These findings support the involvement of NALP1 in predisposition to generalized vitiligo. Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. In Caucasian families from the United States of America and United Kingdom, susceptibility to generalized vitiligo and associated autoimmune diseases is genetically associated with variants of NALP1, encoding NACHT leucine-rich repeat protein 1. Here, we describe a population-based case-control association analysis of single-nucleotide polymorphisms (SNPs) distributed through the NALP1 region in Caucasian generalized vitiligo patients and controls from Romania. This study confirms genetic association of generalized vitiligo with variation in NALP1, which contains at least two independent risk signals, one tagged by SNP rs6502867 and another tagged by SNPs rs2670660 and rs8182352. Individuals carrying high-risk alleles of both rs6502867 and rs2670660 had an odds ratio of 4.20 compared with individuals carrying a high-risk allele from only one signal. These findings support the involvement of NALP1 in predisposition to generalized vitiligo.Journal of Investigative Dermatology (2007) 127, 2558-2562; doi:10.1038/sj.jid.5700953; published online 19 July 2007
Author	Fain, Pamela R. Spritz, Richard A. Birlea, Stanca A. Jin, Ying
Author_xml	– sequence: 1 givenname: Ying surname: Jin fullname: Jin, Ying organization: Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado, USA – sequence: 2 givenname: Stanca A. surname: Birlea fullname: Birlea, Stanca A. organization: Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado, USA – sequence: 3 givenname: Pamela R. surname: Fain fullname: Fain, Pamela R. organization: Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado, USA – sequence: 4 givenname: Richard A. surname: Spritz fullname: Spritz, Richard A. email: richard.spritz@uchsc.edu organization: Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado, USA
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Keywords	Human Skin disease Vitiligo Pigmentation disorder Association Genetic variability Dermatology Genotype Population Generalized Polymorphism
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Snippet	Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying...
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SubjectTerms	Adaptor Proteins, Signal Transducing - genetics Adult Aged Apoptosis Regulatory Proteins - genetics Biological and medical sciences Case-Control Studies Dermatology Female Gene Frequency - genetics Genetic Predisposition to Disease - genetics Genotype Humans Male Medical sciences Middle Aged Odds Ratio Pigmentary diseases of the skin Polymorphism, Single Nucleotide - genetics Romania Vitiligo - ethnology Vitiligo - genetics
Title	Genetic Variations in NALP1 Are Associated with Generalized Vitiligo in a Romanian Population
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