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논문분류	춘계학술대회 초록집
제목	3’UTR Variants of TNS3, PHLDB1, NTN4 and GNG2 Genes are associated with IgA Nephropathy Risk in Chinese Han Population
저자	Hui Han, Jiali Wei
출판정보	2019; 2019(1):
키워드	IgA nephropathy \| Polymorphisms \| NTN4 \| GNG2 \| PHLDB1
초록	IgA nephropathy (IgAN) is the most common primary glomerulonephritis and characterized by mesangial cells proliferation and accumulation of the mesangial matrix. In the present study, we aimed to evaluate the associations of 3’UTR variants of TNS3, PHLDB1, NTN4 and GNG2 genes with the risk of IgAN in Chinese Han population. In this study, a case-control study was performed to explore the role of TNS3, PHLDB1, NTN4 and GNG2 3’UTR region polymorphisms with IgAN risk in a Chinese Han cohort. A logistic recession model was used to calculated candidate SNPs effects on IgAN risk with adjustment for age and gender. In silico prediction was performed to identify potential functions of SNPs. The analysis revealed a significant relationship between the homozygotic genotype for NTN4 rs1362970 A/A and higher risk of IgAN (p = 0.003). Statistically significant associations were found when the sample was stratified by gender and Lee’s grade. As a result, NTN4 rs1362970 A/A and GNG2 rs3204008 G/G genotypes were associated with enhanced IgAN risk in males (p = 0.006, p = 0.023, respectively). However, PHLDB1 rs7389 G/T genotypes and higher IgAN risk was found in females (p = 0.008). In Lee’s grade III-V subgroup, the rs1369270 in NTN4 was significantly correlated with the risk of IgAN (p = 0.004). Bioinformatics prediction suggested that rs1362970 within NTN4 3’UTR was located in the potential target sequence of hsa-miR-483-5p. The results from our study to demonstrated that NTN4, GNG2 and PHLDB1 genes polymorphisms were implicated in IgAN susceptibility in Chinese Han population. Further research should be addressed to investigate and validate the mechanism of how these abovementioned polymorphisms affect IgAN.
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