ArticleDiabetologia2011
Replication of 13 genome-wide association (GWA)-validated risk variants for type 2 diabetes in Pakistani populations.
Article in Diabetologia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 11 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 11 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Quantitative Relationship Between Cumulative Risk Alleles Based on Genome-Wide Association Studies and Type 2 Diabetes Mellitus: A Systematic Review and Meta-analysis.Journal of epidemiology · 2018Pooled it
- Linking Alzheimer's disease and type 2 diabetes: Novel shared susceptibility genes detected by cFDR approach.Journal of the neurological sciences · 2017Pooled it
- Association between IGF2BP2 Polymorphisms and Type 2 Diabetes Mellitus: A Case-Control Study and Meta-Analysis.International journal of environmental research and public health · 2016Pooled it
- Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.PloS one · 2015Pooled it
- Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations?Diabetologia · 2014Pooled it
- Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.The pharmacogenomics journal · 2014Pooled it
- Quantitative assessment of the effect of KCNJ11 gene polymorphism on the risk of type 2 diabetes.PloS one · 2014Pooled it
- Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.PloS one · 2014Pooled it
- Meta-analysis of the effect of KCNQ1 gene polymorphism on the risk of type 2 diabetes.Molecular biology reports · 2013Pooled it
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- The KLF14 Variant is Associated with Type 2 Diabetes and HbABiochemical genetics · 2021Trial
- Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.Genetic testing and molecular biomarkers · 2015Trial
- MAP kinase phosphatases in metabolic diseases.Trends in endocrinology and metabolism: TEM · 2026Review
- KLF14 inhibits tumor progression via FOSL1 in glioma.Biochemistry and biophysics reports · 2025Article
- The NuA4/TIP60 histone-modifying complex and Hr78 modulate theOpen life sciences · 2025Article
- Biochemical Activation and Regulatory Functions of Trans-Regulatory KLF14 and Its Association with Genetic Polymorphisms.Metabolites · 2023Review
- JAZF1: A metabolic actor subunit of the NuA4/TIP60 chromatin modifying complex.Frontiers in cell and developmental biology · 2023Review
- Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India.PloS one · 2023Article
- Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisRecent genome-wide association (GWA) studies and subsequent replication studies have greatly increased the number of validated type 2 diabetes susceptibility variants, but most of these have been conducted in European populations. Despite the high prevalence of the disease in South Asians, studies investigating GWA-validated type 2 diabetes risk variants in this ethnic group are limited. We investigated 30 single nucleotide polymorphisms (SNPs), predominantly derived from recent GWA studies, to determine if and to what extent these variants affect type 2 diabetes risk in two Punjabi populations, originating predominantly from the District of Mirpur, Pakistan.
methodsThirty SNPs were genotyped in 1,678 participants with type 2 diabetes and 1,584 normoglycaemic control participants from two populations; one resident in the UK and one indigenous to the District of Mirpur.
resultsSNPs in or near PPARG, TCF7L2, FTO, CDKN2A/2B, HHEX/IDE, IGF2BP2, SLC30A8, KCNQ1, JAZF1, IRS1, KLF14, CHCHD9 and DUSP9 displayed significant (p < 0.05) associations with type 2 diabetes, with similar effect sizes to those seen in European populations. A constructed genetic risk score was associated with type 2 diabetes (p = 5.46 × 10(-12)), BMI (p = 2.25 × 10(-4)) and age at onset of diabetes (p = 0.002). CONCLUSIONS/
interpretationWe have demonstrated that 13 variants confer an increased risk of type 2 diabetes in our Pakistani populations; to our knowledge this is the first time that SNPs in or near KCNQ1, JAZF1, IRS1, KLF14, CHCHD9 and DUSP9 have been significantly associated with the disease in South Asians. Large-scale studies and meta-analyses of South Asian populations are needed to further confirm the effect of these variants in this ethnic group.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.