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PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.

Journal of human genetics - 1 Nov 2016

Sujjitjoon Jatuporn, Kooptiwut Suwattanee, Chongjaroen Nalinee, Semprasert Namoiy, Hanchang Wanthanee, Chanprasert Kanjana, Tangjittipokin Watip, Yenchitsomanus Pa-Thai, Plengvidhya Nattachet

Abstract excerpt

We have previously identified PAX4 mutations causing MODY9 and a recent genome-wide association study reported a susceptibility locus of type 2 diabetes (T2D) near PAX4. In this study, we aim to investigate the association between PAX4 polymorphisms and T2D in Thai patients and examine functions of PAX4 variant proteins. PAX4 rs2233580 (R192H) and rs712701 (P321H) were genotyped in 746 patients with T2D and 562...

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Identifiers

PMID: 27334367
DOI: 10.1038/jhg.2016.80

Genes

PAX4

Variants

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