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Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array.

ABSTRACT: Renal dysfunction is a long-term complication associated with an increased mortality after lung transplantation (LT). We investigated the association of single-nucleotide polymorphisms (SNPs) with the development of renal dysfunction after LT using a Japanese-specific SNP array. First, eligible samples of 34 LT recipients were genotyped using the SNP array and divided into two groups, according to the presence of homozygous and heterozygous combinations of mutant alleles of the 162 renal-related SNPs. To identify candidate SNPs, the renal function tests were compared between the two groups for each SNP. Next, we investigated the association between the candidate SNPs and the time course of changes of the estimated glomerular filtration rate (eGFR) in the 99 recipients until 10 years after the LT. ΔeGFR was defined as the difference between the postoperative and preoperative eGFR values. Eight SNPs were identified as the candidate SNPs in the 34 recipients. Validation analysis of these 8 candidate SNPs in all the 99 recipients showed that three SNPs, namely, rs10277115, rs4690095, and rs792064, were associated with significant changes of the ΔeGFR. Pre-transplant identification of high-risk patients for the development of renal dysfunction after LT based on the presence of these SNPs might contribute to providing personalized medicine.

SUBMITTER: Tomioka Y

PROVIDER: S-EPMC10235026 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature

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Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array.

Tomioka Yasuaki Y Sugimoto Seiichiro S Yamamoto Haruchika H Tomida Shuta S Shiotani Toshio T Tanaka Shin S Shien Kazuhiko K Suzawa Ken K Miyoshi Kentaroh K Otani Shinji S Yamamoto Hiromasa H Okazaki Mikio M Yamane Masaomi M Toyooka Shinichi S

Scientific reports 20230601 1

Renal dysfunction is a long-term complication associated with an increased mortality after lung transplantation (LT). We investigated the association of single-nucleotide polymorphisms (SNPs) with the development of renal dysfunction after LT using a Japanese-specific SNP array. First, eligible samples of 34 LT recipients were genotyped using the SNP array and divided into two groups, according to the presence of homozygous and heterozygous combinations of mutant alleles of the 162 renal-related ...[more]

PMID: 37264212

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Project description:Although LGALS3 has been widely studied, the genotypes of the LGALS3 single nucleotide polymorphism (SNP) loci in skull base chordoma (SBC) have been not well defined. The aim of the current study was to analyze two LGALS3 SNP genotypes in patients with SBC. A total of 48 patients with SBC who underwent surgical treatment in Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University (Beijing, China) and 66 healthy participants were included in the present study. A total of two SNPs (LGALS3+191 C>A and LGALS3 +292 A>C) were selected for sequencing analysis of amplified target fragments from DNA that was extracted from blood samples. The clinical features of the patients were recorded, follow-up was conducted and statistical analysis was performed with SPSS 20.0. There were no differences in age and sex between the patients and control group. In addition, there were no significant differences in the distribution of genotypes (P=0.662) and allelic frequencies (P=0.638) at LGALS3+191 C>A between the two groups. However, significant difference was observed in the allelic distributions at LGALS3 +292 A>C between them (P=0.016), and allele A was associated with the occurrence of SBC. The distribution of the genotypes at LGALS3 +292 A>C was not significantly different in the additive model (CC vs. AC vs. AA, P=0.083) but was significantly different in the dominant model (CC+AC vs. AA, P=0.043). In the Kaplan-Meier analysis, there were no significant differences in the overall survival and progression analysis between different genotypes at LGALS3 +191 C>A (P=0.168 and P=0.120) in patients with SBC. There was no significant difference in overall survival was observed between the genotypes at +292 A>C (P=0.595). However, the progression-free survival (PFS) time of the CC+AC genotype group was longer compared with the AA genotype group (P<0.001). In the univariate and multivariate analysis of tumor progression, PFS was shorter in the AA genotype group compared with the CC+AC genotype group (P<0.001). The allele A and AA genotype at LGALS3 +292 A>C were observed to be associated with a higher risk of SBC, and the AA genotype at +292 A>C was associated with a shorter PFS time.

Dataset Information

Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array.

Publications

Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array.

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