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Volume 49, Number 3, June 2016

SNP rs4331426 in 18q11.2 is associated with susceptibility to tuberculosis among female Han Taiwanese 

Shih-Wei Lee, Chia-Yin Lin, Tzu-Yi Chuang, Hsiu-Han Huang, Yung-Hsi Kao, Lawrence Shih-Hsin Wu


Corresponding author:

Corresponding author. Yung-Hsi Kao, Department of Life Sciences, National Central University, Number 300, Jhongda Road, Jhongli City, Taoyuan County 32001, Taiwan. 


Background and purpose: 

A single nucleotide polymorphism (SNP) rs4331426 located in a gene-poor region on chromosome 18q11.2 has been associated with tuberculosis (TB) by genome-wide association studies in Ghana and Gambia. In this study, we analyzed the SNP rs4331426 for its association with the risk of TB in the Taiwanese population. The SNP rs4331426 was genotyped in a case-control design that included 377 Han Taiwanese (200 TB patients and 177 controls) and was associated with TB (marginally significant p = 0.078). An increasingly significant association was observed after adjusting for sex in the logistic regression analysis (p = 0.029). Furthermore, the G carrier (AG genotype) conferred the risk of TB in females (p = 0.011), but not in males. These findings indicate that the SNP rs4331426 associated with TB in the Han Taiwanese population, especially in females. Further investigations on its role and that of the genomic region surrounding it are warranted. 


Key words:

rs4331426, single nucleotide polymorphism, tuberculosis