본 연구에서는 ALK receptor tyrosine kinase (ALK) 유전자의 단일염기다형성이 뇌출혈의 발병에 관여하는 지를 연구하였다. 156명의 뇌출혈 환자와 425명의 정상인를 모집하였으며 네 개의 단일염기다형성에 대하여 상관성을 살펴보았다. 통계분석에서는 SNPstats, SPSS22.0, Haploview 프로그램을 활용하였다. Odd ratio, 95% 신뢰구간에서는 genotype 모델 및 allele 모델에서 계산하였다. 통계분석결과, rs1881421, rs1881420, rs3795850, rs2246745 의 단일염기다형성이 뇌출혈과 관련하여 유의성을 보였다. (rs1881421, OR=2.02, 95% CI=1.54-2.64, p<0.001; rs1881420, OR=0.53, 95% CI=1.16-2.01, p=0.003; rs3795850, OR=1.54, 95% CI=1.17-2.02, p=0.002; rs2246745, OR=1.95, 95% CI=1.46-2.60, p<0.001 in each allele analysis). CC, GT, and GC haplotypes 빈도 역시 유의성을 보였다. 네 개의 단일염기다형성의 minor allele 가 뇌출혈의 발병을 증가시키는데 기여하였다. 이러한 연구 결과는 ALK 유전자가 뇌출혈의 위험성과 관련 있음을 시사한다.
I investigated that ALK receptor tyrosine kinase (ALK) gene polymorphisms were contributed to susceptibility to ICH in Korean population. I recruited 156 ICH patients and 425 healthy controls for this study, respectively. rs1881421, rs1881420, rs3795850, and rs2246745 single nucleotide polymorphisms (SNPs) were genotyped. The genotype and allele distributions of tested four SNPs was analyzed using the SNPStats, SPSS 22.0, and the Haploview v.4.2 software. The Odd's ratios (OR), 95% confidence intervals (CI), and P values were calculated in allele and genotype models. I found that rs1881421, rs1881420, rs3795850, and rs2246745 SNPs of ALK gene (rs1881421, OR=2.02, 95% CI=1.54-2.64, p<0.001; rs1881420, OR=0.53, 95% CI=1.16-2.01, p=0.003; rs3795850, OR=1.54, 95% CI=1.17-2.02, p=0.002; rs2246745, OR=1.95, 95% CI=1.46-2.60, p<0.001 in each allele analysis). And distributions of CC, GT, and GC haplotypes between the ICH group and the control group also showed significant association with ICH (CC haplotype, p<0.001; GT haplotype, p=0.006; GC haplotype, p<0.001). These minor alleles of tested four SNPs in ALK gene were contributed to increased risk of development for ICH. Our findings suggested that the ALK gene may be a risk factor for susceptibility to ICH.The Korea Internet of Things Society.