ArticleDiabetologia2017
Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals.
Article in Diabetologia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 28 citations in OpenAlex.
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- Pathophysiology of type 2 diabetes: A focus on the metabolic differences among southeast Asian, Chinese and Indian populations and how this impacts treatment.Diabetes, obesity & metabolism · 2025Review
- Vagal sensory neuron-derived FGF3 controls insulin secretion.Developmental cell · 2025Article
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- Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.Nature communications · 2023Article
- Pax4 in Health and Diabetes.International journal of molecular sciences · 2023Review
- The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.Frontiers in endocrinology · 2023Article
- Article
- Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry.Current diabetes reports · 2021Review
- Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus.Diabetes & metabolism journal · 2021Article
- Micro-ribonucleic acid-binding site variants of type 2 diabetes candidate loci predispose to gestational diabetes mellitus in Chinese Han women.Journal of diabetes investigation · 2018Article
- Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population.BMC medical genetics · 2018Article
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Authors and funding
25 authors at 4 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisGenome-wide association studies (GWASs) have identified many common type 2 diabetes-associated variants, mostly at the intronic or intergenic regions. Recent advancements of exome-array genotyping platforms have opened up a novel means for detecting the associations of low-frequency or rare coding variants with type 2 diabetes. We conducted an exomechip association analysis to identify additional type 2 diabetes susceptibility variants in the Chinese population.
methodsAn exome-chip association study was conducted by genotyping 5640 Chinese individuals from Hong Kong, using a custom designed exome array, the Asian Exomechip. Single variant association analysis was conducted on 77,468 single nucleotide polymorphisms (SNPs). Fifteen SNPs were subsequently genotyped for replication analysis in an independent Chinese cohort comprising 12,362 individuals from Guangzhou. A combined analysis involving 7189 cases and 10,813 controls was performed.
resultsIn the discovery stage, an Asian-specific coding variant rs2233580 (p.Arg192His) in PAX4, and two variants at the known loci, CDKN2B-AS1 and KCNQ1, were significantly associated with type 2 diabetes with exome-wide significance (p CONCLUSIONS/
interpretationWe identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes. Our findings suggest PAX4 is a possible effector gene of the 7q32 locus, previously identified from GWAS in Asians.
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