Polymorphisms in P53 and VEGFA genes in different subtypes of periorbital hyperpigmentation in a Malaysian Chinese population

Polymorphisms in P53 and VEGFA genes in different subtypes of periorbital hyperpigmentation in a Malaysian Chinese population

Background/Objectives The unknown pathogenesis of periorbital hyperpigmentation makes its treatment difficult. Existing evidence links p53 and VEGFA genes with skin hyperpigmentation. This study was aimed at (i) identifying the clinical pattern of periorbital hyperpigmentation; and (ii) detecting th...

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Bibliographic Details
Published in:Australasian journal of dermatology Vol. 60; no. 2; pp. e99 - e104
Main Authors: Amini, Farahnaz, Thazin Oo, Naw May, Okechukwu, Patrick Nwabueze, Seghayat, Marjan Sadat, Ng, Edmond Siah Chye
Format: Journal Article
Language:English
Published: Australia Wiley Subscription Services, Inc 01-05-2019
Subjects:
Allergic rhinitis
Asian Continental Ancestry Group - genetics
Cross-Sectional Studies
DNA sequencing
Erythema - pathology
Eyelid Diseases - genetics
Eyelids - abnormalities
Female
Gene polymorphism
Genotype
Genotype & phenotype
Humans
Hyperpigmentation
Hyperpigmentation - genetics
Malaysia
Male
Melanins - metabolism
P53 gene
p53 Protein
periorbital hyperpigmentation
pigmentation, SNP
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
polymorphisms
Population studies
Rhinitis, Allergic - genetics
Saliva
Single-nucleotide polymorphism
Skin
Skin - metabolism
Tumor Suppressor Protein p53 - genetics
Vascular Endothelial Growth Factor A - genetics
VEGFA gene
Young Adult
Malaysia
VEGFA gene
pigmentation, SNP
periorbital hyperpigmentation
P53 gene
polymorphisms
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Summary:Background/Objectives The unknown pathogenesis of periorbital hyperpigmentation makes its treatment difficult. Existing evidence links p53 and VEGFA genes with skin hyperpigmentation. This study was aimed at (i) identifying the clinical pattern of periorbital hyperpigmentation; and (ii) detecting the presence of VEGFA and P53 single nucleotide polymorphism (SNPs) in different subtypes of periorbital hyperpigmentation in Malaysian Chinese. Methods A cross‐sectional study was conducted among Malaysian Chinese. Clinical assessments were performed, and medical history was collected. Three regions of p53 and two of VEGFA were amplified by PCR followed by direct sequencing using saliva‐extracted DNA. Results Eighty‐four participants were recruited (average age 22.2 years). In the majority (n = 62), both eyelids were affected. Facial pigmentary, demarcation lines, tear trough and eye bags were not observed. Mixed (pigmented–vascular) was the most common subtype. Thirteen SNPs were found, nine of which are new. Only three out of 13 SNPs showed significant association with periorbital hyperpigmentation presentation. TA genotype in rs1437756379 (p53) was significantly more prevalent among participants with mixed subtype (P = 0.011) while AC genotype in rs1377053612 (VEGFA) was significantly more prevalent among pigmented subtype (P = 0.028). AA genotype in rs1479430148 (VEGFA) was significantly associated with allergic rhinitis in mixed subtype (P = 0.012). Conclusion Mixed subtype was the most prevalent type of periorbital hyperpigmentation in the study population. Three polymorphisms in p53 and VEGFA genes were statistically linked with different clinical presentations of periorbital hyperpigmentation.
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ISSN:0004-8380
1440-0960
DOI:10.1111/ajd.12918