Haplotype analysis and linkage disequilibrium of ApoB gene polymorphisms and its relationship with hyperlipidemia in patients with acne vulgaris

J Gene Med. 2024 Jan;26(1):e3578. doi: 10.1002/jgm.3578. Epub 2023 Aug 18.

Abstract

Background: Acne vulgaris (AV) is a chronic, multifactorial inflammatory disease of the pilosebaceous unit brought on by hormonal imbalance, excessive sebum production, follicular hyperkeratinization, inflammation and Cutibacterium acne. Acne patients are characterized by alteration of the lipid profile. Apolipoprotein B gene (ApoB) plays an essential role in lipoprotein biosynthesis and multiple single-nucleotide polymorphisms (SNPs) in ApoB are associated with dyslipidemia.

Aim: The aim of this study was to estimate the alteration of lipid profiles in AV, determine the genetic association with lipid profile alteration by studying the ApoB gene polymorphisms, and to identify the exact haplotypes associated with acne and lipid profile alteration.

Subjects and methods: In a case-control study consisting of 63 non-obese acne patients and 43 healthy controls, all participants underwent biochemical, anthropological assessments, and genetic analysis for ApoB polymorphisms.

Result: Our results indicate that serum ApoB and the lipid profile were higher in acne patients compared with healthy subject. The most common haplotypes in acne patients were rs562338 A/rs17240441 I/c.12669 A/rs1042034 G, whereas the most common haplotypes in healthy subjects were rs562338 G/rs17240441 D/c.12669 A/rs1042034 G. Patients with mild acne had higher serum ApoB levels p = 0.005. Also, the low-density lipoprotein cholesterol (LDL-C) level was higher in mild acne compared with other acne groups, with a highly significant variation of p ≤ 0.001.

Conclusion: We found a significant variation between the acne group and healthy controls in serum ApoB, triglycerides, total cholesterol and LDL-C. The most common haplotypes in acne patients are rs562338 A/, rs17240441 I/, c.12669 A/ and rs1042034 G, and there is a linkage disequilibrium between the four selected SNPs.

Keywords: ApoB gene; acne vulgaris; dyslipidemia; haplotypes analysis; linkage disequilibrium; non-obese; serum Apo B.

MeSH terms

  • Acne Vulgaris* / genetics
  • Apolipoproteins B / genetics
  • Case-Control Studies
  • Cholesterol, LDL / genetics
  • Gene Frequency
  • Haplotypes
  • Humans
  • Hyperlipidemias*
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide

Substances

  • Apolipoproteins B
  • Cholesterol, LDL
  • APOB protein, human