A Novel Variant with Positive Natural Selection Influenced Hb A(2) Levels in Chinese Individuals with beta-Thalassemia

作者：Yu, Shanjuan; Chen, Yang; Lai, Ketong; Dewan, Roma Kajal; He, Yunyan^*

来源：Hemoglobin, 2017, 41(3): 193-197.

DOI：10.1080/03630269.2017.1358177

• beta-Thalassemia (beta-thal)
• Hb A(2)
• positive natural selection
• rs231841 polymorphism

beta-Thalassemia (beta-thal) is the most common inherited hemolytic anemia worldwide. Elevated Hb A(2) is a mark of -thal carriers. The aim of this study was to identify the pathogenic variants associated with the Hb A(2) levels. One thousand and thirty -thal carriers were recruited for this study. Using positive natural expression quantitative trait loci (eQTL) analysis, a significant variant was selected. Genotyping for the rs231841 polymorphism was performed by the Sequenom MassARRAY IPLEX platform. All genetic association analyses were performed with the PLINK program. The linear regression analysis showed that rs231841 in the intron region of the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene on chromosome 11p15 was significantly associated with Hb A(2) levels. The presence of the C allele was associated with elevated Hb A(2) levels. Our results suggest that rs231841 on the KCNQ1 gene with positive natural selection is related to Hb A(2) levels in Chinese -thal carriers, and KCNQ1 is probably associated with the expression of the -like globin gene cluster.

• 出版日期2017
• 单位广西医科大学