Association of a single nucleotide polymorphism (rs27434) in the ERAP1 gene with plural tissue weight

• Published in: Legal medicine (Tokyo, Japan) Vol. 68; p. 102419
• Main Authors: Sasaki, Takamitsu, Razia, Sultana, Kimura-Kataoka, Kaori, Araki, Takeshi, Kusaka, Akari, Takeshita, Haruo, Fujihara, Junko
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier B.V 01.05.2024
• Subjects: Adult; Aged; Aged, 80 and over; Aminopeptidases - genetics; Asian People - genetics; Autopsy; Brain - metabolism; ERAP1; Female; Genotype; Humans; Japan; Liver; Male; Middle Aged; Minor Histocompatibility Antigens - genetics; Organ Size - genetics; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Single nucleotide polymorphism; Tissue weight; Japan; Tissue weight; SNPs; AS; Single nucleotide polymorphism; ERAP1
• ISSN: 1344-6223; 1873-4162; 1873-4162
• DOI: 10.1016/j.legalmed.2024.102419

•ERAP1 gene optimizes peptide size.•SNPs in ERAP1 associate to disease susceptibility.•rs27434 in ERAP1 associate with plural tissue weight.•A allele link to higher organ weight coefficient.•G allele link to appendix length coefficient. Our study was designed to examine the correlation between single nucleotide polymorphism (SNP) in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene, specifically focusing on rs27434, and plural tissue weight. We conducted this investigation using autopsy samples from the Japanese population. Blood samples were collected from 178 Japanese subjects who had undergone autopsies in Shimane Prefecture. Genomic DNA was subsequently extracted from these samples. SNP (rs27434, G＞A substitution) was analyzed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. In the present study, rs27434 exhibited a statistically significant association with brain weight (g) in both female and male individuals. Among males, rs27434 displayed significant relationships with liver weight (g), and body surface area (m2). In females, rs27434 was significantly related to the length of the appendix. Across both genders, individuals with GA and AA genotypes tended to exhibit higher levels in these respective measurements compared to those with the GG genotype. These results suggest that genetic variant of ERAP1 gene may influence the weight of the organs. To the best of our knowledge, this is the first study investigating the interaction between the association of rs27434 in the ERAP1 gene and data routinely measured at autopsy, such as tissue weight. However, conducting further investigations with larger population samples could provide more comprehensive insights to clarify this issue.