A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females

March 2015 in “ Nature Communications ”

Swarkar Sharma, Douglas Londono, Walter L. Eckalbar, Xiaochong Gao, Jianhua Zhang, Kristen Mauldin, Ikuyo Kou, Atsushi Takahashi, Morio Matsumoto, Nobuhiro Kamiya, Karl K. Murphy, Reuel Cornelia, John A. Herring, Dennis K. Burns, Nadav Ahituv, Shiro Ikegawa, Derek Gordon, Carol A. Wise

androgenetic alopecia alopecia PAX1 single-nucleotide polymorphisms SNPs genetic locus genome-wide association study GWAS AGA hair loss

TLDR A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

The document presents a study that identified a genetic locus associated with idiopathic scoliosis (IS) in females. Researchers conducted a genome-wide association study (GWAS) involving 3,102 individuals and found significant associations with single-nucleotide polymorphisms (SNPs) at the 20p11.22 locus near the PAX1 gene in females, but not in males. The association was confirmed in independent cohorts from the United States and Japan, with an overall P-value of 2.15 × 10^-10 and an odds ratio of 1.30 for SNP rs6137473. The study also found that the IS risk alleles at this locus had been associated with protection from early-onset alopecia, indicating a potential genetic overlap between IS and androgenetic alopecia (AGA). A sequence within the associated locus was identified as an enhancer in zebrafish muscle and spinal cord, but its activity was disrupted by the IS-associated SNPs. The study suggests that PAX1 may play a role in spinal development and contributes to understanding the sexual dimorphism in IS susceptibility.

View this study on nature.com →

Discuss this study in the Community →

Research cited in this study

3 / 3 results

research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases

87 citations, May 2012 in “PLOS Genetics”

Six new genetic regions linked to early hair loss also connect to Parkinson's disease and prostate cancer, possibly leading to new treatments.

research Male-Pattern Baldness Susceptibility Locus at 20p11

111 citations, October 2008 in “Nature Genetics”

Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.

research Androgenetic Alopecia in Women

139 citations, June 2003 in “Journal of Investigative Dermatology Symposium Proceedings”

Androgenetic alopecia in women needs more research and better management strategies.

Related Community Posts Join

6 / 1000+ results

community Evidenced Based Meta-Analyses and Systemic Reviews of Androgenic Alopecia and Treatments

in Research/Science 14 upvotes 4 years ago

Evidence-based treatments for androgenic alopecia, such as minoxidil, finasteride, low-level laser light therapy, dutasteride, platelet-rich plasma, and topical ketoconazole. It discusses the efficacy, safety, and mechanism of action of these treatments, as well as future developments in understanding this polygenic condition.

community WOMEN on Spironolactone - experiences?

6 upvotes 9 years ago

Hair loss treatments discussed: Minoxidil, Finasteride, RU58841, and Spironolactone. Woman with androgenetic alopecia and alopecia areata shares experience using Spironolactone.

community AGA evaluation and first steps - BEGINNER MEGAPOST

in Chat 76 upvotes 3 months ago

The conversation discusses androgenic alopecia (AGA) and its treatments, focusing on finasteride, minoxidil, and ketoconazole shampoo. Finasteride is recommended as essential for preventing further hair loss.

community Diffuse hair loss and scalp biopsies

in Research 692 upvotes 4 months ago

Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

community If follicles became miniaturized and haven’t grown in 3 years, are they dead ?

in Chat 2 years ago

Hair loss and its potential treatments, such as minoxidil, finasteride, RU58841, dermarolling, and supplements. It discusses whether miniaturized follicles can be revived to grow again or must shed for new growth to appear.

community Redensyl (The Ordinary Serum)

in Treatment 20 upvotes 4 years ago

Redensyl, a hair loss treatment that has been claimed to be 80% more effective than minoxidil, but users have not experienced any results from using it.

Similar Research

5 / 1000+ results

Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population

research Relationship of Hypothyroidism with Alopecia Areata and Androgenetic Alopecia: Insights from a Two-Sample Mendelian Randomization Study

August 2024 in “Clinical Cosmetic and Investigational Dermatology”

Hypothyroidism may cause certain types of hair loss.

research Prediction of Male-Pattern Baldness from Genotypes

37 citations, October 2015 in “European Journal of Human Genetics”

Genetic data can predict male-pattern baldness with moderate accuracy, especially for early-onset cases in some European men.