rs11871109 - JUP - P3H4

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia. - The Journal of clinical endocrinology and metabolism (2021) · Chai JF, Kao SL, Wang C, Lim VJ, Khor IW, Dou J, Podgornaia AI, Chothani S, Cheng CY, Sabanayagam C, Wong TY, van Dam RM, Liu J, Reilly DF, Paterson AD, Sim X · PubMed 32936915

  Glycated hemoglobin A1c (HbA1c) level is used to screen and diagnose diabetes. Genetic determinants of HbA1c can vary across populations and many of the genetic variants influencing HbA1c level were specific to populations. To discover genetic variants associated with HbA1c level in nondiabetic Malay individuals. We conducted a genome-wide association study (GWAS) analysis for HbA1c using 2 Malay studies, the Singapore Malay Eye Study (SiMES, N = 1721 on GWAS array) and the Living Biobank study (N = 983 on GWAS array and whole-exome sequenced). We built a Malay-specific reference panel to impute ethnic-specific variants and validate the associations with HbA1c at ethnic-specific variants. Meta-analysis of the 1000 Genomes imputed array data identified 4 loci at genome-wide signific

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