Objective: Genetic polymorphisms in ALDH2 and C12orf30 genes have been reported to increase the risk of developing esophageal squamous cell carcinoma (ESCC). This study aims to investigate the relationship between ALDH2 rs671 and c12orf30 rs4767364 polymorphisms in the chromosome 12q24 gene, and risk and prognosis of individuals developing esophageal cancer (ESCC) in Xinjiang Kazak and Han populations.
Methods: The case group consisted of 127 ESCC patients. The control group comprised of 125 healthy individuals. Subjects that were recruited all come from Xinjiang province. TaqMan and the Hardy-Weinberg equilibrium were the main methods employed to detect and examine the distribution of genotypes of rs671 and rs4767364.
Results: The genotype frequencies of ALDH2 rs671 between the Kazak case and control groups were statistically significant, while no significant difference was observed between the Han case and control groups (P>.05). Moreover, ALDH2 rs671 (G>A) was associated with poor prognosis of ESCC in both Kazak and Han populations, and c12orf30 rs4767364 (A>G) was also connected with poor prognosis of ESCC in Kazak but not in Han population.
Conclusion: In the chromosome 12q24 locus, ALDH2 rs671 (G>A) is related to the susceptibility to ESCC in Kazak populations, and it is also associated with poor prognosis of EC in Kazak and Han populations. Furthermore, c12orf30 rs4767364 (A>G) may be correlated with poor ESCC prognosis in Kazak population.
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http://dx.doi.org/10.1002/jcla.22248 | DOI Listing |
World J Biol Psychiatry
January 2025
Division of Human Genetics, Department of Pathology, University of Cape Town, South Africa.
Objective: The aetiology of epilepsy is known to have genetic contributions, yet results from genome-wide association studies (GWAS) have not always been consistent. We undertook a systematic review in order to identify risk variants for epilepsy.
Methods: This systematic review was conducted in accordance with the PRISMA protocol.
Int J Mol Sci
November 2024
Institute of Advanced Technology, Theragen Health Co., Ltd., Seongnam 13493, Republic of Korea.
Insulin resistance is a major indicator of cardiovascular diseases, including hypertension. The Metabolic Score for Insulin Resistance (METS-IR) offers a simplified and cost-effective way to evaluate insulin resistance. This study aimed to identify genetic variants associated with the prevalence of hypertension stratified by METS-IR score levels.
View Article and Find Full Text PDFPharmacogenet Genomics
December 2024
PhD Program in Environmental and Occupational Medicine, College of Medicine, Kaohsiung Medical University.
Alcohol Clin Exp Res (Hoboken)
January 2025
Center for Birth Cohort Studies, University of Yamanashi, Chuo, Japan.
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