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Sequence Variant Analysis of the APOCII Locus among an Arab Cohort.
Al-Bustan, Suzanne A; Alrashid, Maryam H; Al-Serri, Ahmad E; Annice, Babitha G; Bahbahani, Hussain M.
Afiliación
  • Al-Bustan SA; Department of Biological Sciences, College of Science, Kuwait University, Farwaniya 85700, Kuwait.
  • Alrashid MH; Department of Biological Sciences, College of Science, Kuwait University, Farwaniya 85700, Kuwait.
  • Al-Serri AE; Unit of Human Genetics, Department of Pathology, Faculty of Medicine, Kuwait University, Hawally 46300, Kuwait.
  • Annice BG; Department of Biological Sciences, College of Science, Kuwait University, Farwaniya 85700, Kuwait.
  • Bahbahani HM; Department of Biological Sciences, College of Science, Kuwait University, Farwaniya 85700, Kuwait.
Int J Mol Sci ; 24(22)2023 Nov 14.
Article en En | MEDLINE | ID: mdl-38003484
Apolipoprotein CII (ApocII) plays a key role in regulating lipoprotein lipase (LPL) in lipid metabolism and transport. Numerous polymorphisms within APOCII are reportedly associated with type 2 diabetes mellitus (T2DM), dyslipidemia, and aberrant plasma lipid levels. Few studies have investigated sequence variants at APOCII loci and their association with metabolic disorders. This study aimed to identify and characterize genetic variants by sequencing the full APOCII locus and its flanking sequences in a sample of the Kuwaiti Arab population, including patients with T2DM, hypertriglyceridemia, non-Arab patients with T2DM, and healthy Arab controls. A total of 52 variants were identified in the noncoding sequences: 45 single nucleotide polymorphisms, wherein five were novel, and seven insertion deletions. The minor allele frequency (MAF) of the 47 previously reported variants was similar to the global MAF and to that reported in major populations. Sequence variant analysis predicted a conserved role for APOCII with a potential role for rs5120 in T2DM and rs7133873 as an informative ethnicity marker. This study adds to the ongoing research that attempts to identify ethnicity-specific variants in the apolipoprotein gene loci and associated LPL genes to elucidate the molecular mechanisms of metabolic disorders.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Kuwait Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Kuwait Pais de publicación: Suiza