Alopecia Areata Genetic Ancestry Analysis

AA patients were ascertained through the National Alopecia Areata Registry with approval from institutional review boards of the contributing sites and genotyped on the Illumina HumanHap 610-Quadv1 or HumanHap 550 chip for our previous GWAS.^{4 (link)} Controls consisted of individuals that were genotyped on HumanHap550, Illumina HumanHap 610-Quadv1, Illumina HumanHap 1M, Illumina HumanHap iM duo chips for 11 genome-wide association case-control or longitudinal studies unrelated to alopecia areata, as described previously.^{21 (link),22 (link),38 (link),39 (link)} Ancestry-specific SNP genotypes called from the arrays were used in principal component analysis to determine genetic ancestry of each case and control. Only genetically European samples were used in our CNV analysis. Relatedness was also assessed with SNP genotypes to insure that cases and controls were unrelated.

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Petukhova L., Patel A.V., Rigo R.K., Bian L., Verbitsky M., Sanna-Cherchi S., Erjavec S.O., Abdelaziz A.R., Cerise J.E., Jabbari A, & Christiano A.M. (2019). Integrative analysis of rare copy number variants and gene expression data in Alopecia Areata implicates an etiological role for autophagy. Experimental dermatology, 29(3), 243-253.

Publication 2019

HumanHap 550

Alopecia areata Chips Each European Genome Genotypes Gwas Institutional review boards Patients

Corresponding Organization : Columbia University

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Variable analysis

independent variables

Genetic ancestry determined by principal component analysis of SNP genotypes

dependent variables

Alopecia areata presence/status (case vs. control)

control variables

Genetic relatedness between cases and controls, assessed using SNP genotypes
Genotyping platform (Illumina HumanHap 610-Quadv1, HumanHap 550, HumanHap 1M, HumanHap iM duo chips)

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