AUTHOR=Wang Dongsen , Hu Xuemei , Yang Xue , Yang Mingfeng , Wu Qingjian 

TITLE=Variants rs2200733 and rs6843082 Show Different Associations in Asian and Non-Asian Populations With Ischemic Stroke

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.905560

DOI=10.3389/fgene.2022.905560

ISSN=1664-8021

ABSTRACT=<p>A previous genome-wide association study (GWAS) has reported that variants rs2200733 and rs6843082 in the paired-like homeodomain transcription factor 2 (<italic>PITX2</italic>) gene may be one of the risk factors for ischemic stroke (IS) in European populations. However, more recently, studies in Asia have reported that rs2200733 and rs6843082 are only weakly or not associated with increased risk of IS. This difference may be caused by the sample size and genetic heterogeneity of rs2200733 and rs6843082 among different races. For this study, we selected eight articles with nine studies from the PubMed and Embase databases, including five articles from Asian and three articles from non-Asian, to evaluate the risk of IS caused by rs2200733 and rs6843082. Then, we investigated rs2200733 and rs6843082 single-nucleotide polymorphisms (SNPs) by analysis using allele, recessive, dominant, and additive models. We identified that rs2200733 and rs6843082 are weakly significantly associated with IS for the allele model (<italic>p</italic> = 0.8), recessive model (<italic>p</italic> = 0.8), dominant model (<italic>p</italic> = 0.49), and additive model (<italic>p</italic> = 0.76) in a pooled population. Next, we performed a subgroup analysis of the population, the result of which showed that rs2200733 and rs6843082 covey genetic risk for IS in a non-Asian population, but not in an Asian population. In conclusion, our analysis shows that the effect of <italic>PITX2</italic> rs2200733 and rs6843082 SNPs on IS risk in Asia is inconsistent with the effect observed in European IS cohorts.</p>