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

Lee, Shih Wei; Lin, Chih-Hsien; Chuang, Tsu‐Yi; Huang, Hsiu Han; Kao, Ying-Jer; Wu, Lawrence Shih Hsin

doi:10.1016/j.jmii.2014.11.007

Cited by 10 publications

(5 citation statements)

References 8 publications

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“…However, no report has indicated that this genotype is related to regulation of IFI16 gene expression and the development of disease. Similar to previous studies in the Han Taiwanese population, SOCS3 SNPs rs4331426 in women and rs35037722 in men were associated with TB 6,34 and NLRP3 SNPs rs3806268 and rs34298354 in women and TLR2 SNP rs3804100 in men were associated with MAC 33 . In addition, bisphenol A, an environmental estrogen, stimulates IFI16 protein expression in human peripheral blood mononuclear cells 35 , suggesting a possible gender-dependent association of IFI16 gene polymorphism with TB risk.…”

Section: Discussionsupporting

confidence: 87%

The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population

Liu

Lin

et al. 2020

Sci Rep

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Pulmonary tuberculosis (TB) caused by Mycobacterium tuberculosis (Mtb) is a global public health concern. Although inflammasome and the toll-like receptor 2 (TLR2) genes play an important role in host defense against Mtb, the associations of polymorphisms in these genes with TB risk are incompletely understood. A total of 230 TB patients and 213 individuals without TB were enrolled in this study. A significant difference in the frequencies of different AIM2 rs2276405 genotypes between the non-TB and TB groups was detected. When the patients were stratified by gender or age, significant differences in genotype frequencies at NLRP3 rs34298354 in men and in non-aged (≤65-year-old) subjects and at IFI16 rs1772408 in women were found. OR analysis showed that the TC rs34298354 genotype in NLRP3 was associated with reduced risk of TB. In women, the AG rs1772408 genotype in IFI16 was associated with decreased TB risk. Haplotype analysis showed that, in comparison with the most common haplotype (T-T) of rs3804099-rs3804100 in the TLR2 gene, the C-T haplotype was associated with an increased risk for TB. Our study indicates that rs34298354 in NLRP3 and rs1772408 in IFI16 protect individuals from TB, and that the less common TLR2 haplotype is associated with increased TB susceptibility.

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Section: Discussionsupporting

confidence: 87%

The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population

Liu

Lin

et al. 2020

Sci Rep

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“…The OR analysis showed a sex-dependent association of the rs13170556 TC genotype with TB risk. Sex-dependent associations of rs4331426 and rs35037722 with TB risk have been reported previously, similar to studies in the Han Taiwanese population [ 3 , 33 ]. The GTExPortal database indicates an association of rs13170556 with HAVCR2 expression in testis tissue ( https://gtexportal.org/home/snp/rs13170556 ) [ 30 ].…”

Section: Discussionsupporting

confidence: 87%

Association of tuberculosis risk with genetic polymorphisms of the immune checkpoint genes PDCD1, CTLA-4, and TIM3

Liu,

Wu,

Lin

et al. 2024

PLoS ONE

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The immune checkpoint proteins were reported to involve to host resistance to Mycobacteria tuberculosis (Mtb). Here, we evaluated 11 single nucleotide polymorphisms (SNPs) in PDCD1, CTLA4, and HAVCR2 genes between participants with and without TB infection. Genomic DNA isolated from 285 patients with TB and 270 controls without TB infection were used to perform the genotyping assay. Odds ratios were used to characterize the association of 11 SNPs with TB risk. In this study, the various genotypes of the 11 SNPs did not differ significantly in frequency between the non-TB and TB groups. When patients were stratified by sex, however, men differed significantly from women in genotype frequencies at HAVCR2 rs13170556. Odds ratios indicated that rs2227982, rs13170556, rs231775, and rs231779 were sex-specifically associated with TB risk. In addition, the combinations of rs2227982/rs13170556 GA/TC in men and the A-C-C haplotype of rs231775-rs231777-rs231779 in women were significantly associated with TB risk. Our results indicate that rs2227982 in PDCD1 and rs13170556 in HAVCR2 are associated with increased TB susceptibility in men and that the CTLA4 haplotype appears protective against TB in women.

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“…However, these SNPs were not associated with TB . In contrast, SNP rs4331426A/G was in a case–control study (200 TB patients, 177 controls) associated with TB in the Han Taiwanese population . A subsequent meta‐analysis of SNP rs4331426A/G at 18q11.2 included five studies in Chinese populations with a total of 3118 cases and 3226 control and showed that variant rs4331426A/G was also not associated with TB .…”

Section: Candidate Gene Studies In Tuberculosismentioning

confidence: 97%

Human genetic factors in tuberculosis: an update

Tong

Velavan

Thye

et al. 2017

Tropical Med Int Health

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Tuberculosis (TB) is a major threat to human health, especially in many developing countries. Human genetic variability has been recognised to be of great relevance in host responses to Mycobacterium tuberculosis infection and in regulating both the establishment and the progression of the disease. An increasing number of candidate gene and genome-wide association studies (GWAS) have focused on human genetic factors contributing to susceptibility or resistance to TB. To update previous reviews on human genetic factors in TB we searched the MEDLINE database and PubMed for articles from 1 January 2014 through 31 March 2017 and reviewed the role of human genetic variability in TB. Search terms applied in various combinations were 'tuberculosis', 'human genetics', 'candidate gene studies', 'genome-wide association studies' and 'Mycobacterium tuberculosis'. Articles in English retrieved and relevant references cited in these articles were reviewed. Abstracts and reports from meetings were also included. This review provides a recent summary of associations of polymorphisms of human genes with susceptibility/resistance to TB.

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

Cited by 10 publications

References 8 publications

The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population

The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population

Association of tuberculosis risk with genetic polymorphisms of the immune checkpoint genes PDCD1, CTLA-4, and TIM3

Human genetic factors in tuberculosis: an update

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