Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

January 2013 in “ PLoS ONE ”

Seungbok Lee, Seung Hwan Paik, Hyun Jin Kim, Hyeong Ho Ryu, Soeun Cha, Seong Jin Jo, Hee Chul Eun, Jeong‐Sun Seo, Jong‐Il Kim, Oh Sang Kwon

alopecia universalis alopecia areata HLA-DRB5 BTNL2 HLA-DMB TLR1 PMS2 HLA-A single nucleotide polymorphisms AU AA SNPs

TLDR HLA-DRB5 and other genes may be linked to alopecia universalis.

The study used exomic sequencing to explore genetic variants linked to alopecia universalis (AU) in 20 patients, identifying 26 candidate variants in immune-related genes. Six variants showed significant association with AU compared to 155 Asian controls, notably implicating the HLA-DRB5 gene, previously unlinked to alopecia areata (AA), as a potential contributor to AU. The research also reinforced associations with known genes like BTNL2 and HLA-A and discovered new variants in genes such as HLA-DMB, TLR1, and PMS2. Despite the small sample size, the study underscored the importance of rare genetic variants in AU's genetic basis and suggested further research with larger populations.

View this study on journals.plos.org →

Discuss this study in the Community →

Research cited in this study

7 / 7 results

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations, June 2010 in “Nature”

Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.

research Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata

286 citations, August 2007 in “Journal of Clinical Investigation”

Alopecia areata is an autoimmune disease where T cells attack hair follicles.

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

143 citations, January 2007 in “The American Journal of Human Genetics”

Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.

research Familial Aggregation of Alopecia Areata

295 citations, January 2006 in “Journal of the American Academy of Dermatology”

Alopecia areata, a common autoimmune hair loss condition, often runs in families.

research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata

44 citations, December 2005 in “Journal of Investigative Dermatology”

Certain genetic markers, especially the MICA gene, are linked to alopecia areata.

research Noggin Is Required for Induction of the Hair Follicle Growth Phase in Postnatal Skin

211 citations, October 2001 in “The FASEB Journal”

Noggin is necessary to start the hair growth phase in skin after birth.

research Alopecia Areata: Diagnosis and Management

48 citations, May 1999 in “International Journal of Dermatology”

Alopecia areata is an unpredictable autoimmune hair loss condition, treated based on severity, with half of patients regrowing hair within a year without treatment.

Related Research

5 / 5 results

research Case Report of Novel Combination of Anthralin and Calcipotriene Leading to Trichologic Response in Alopecia Areata

6 citations, March 2019 in “JAAD case reports”

A new mix of anthralin and calcipotriene might help treat severe hair loss.

research Alopecia Areata: A Multifactorial Autoimmune Condition

148 citations, December 2018 in “Journal of autoimmunity”

Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.

research Linear Alopecia Areata

4 citations, November 2018 in “JAAD case reports”

Alopecia areata can sometimes appear as a straight line of hair loss instead of round patches.