ABCMdb

PMID: 17342155

Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen AL, Wass JA, Jarvelin MR, Zeggini E, Franks S, McCarthy MI
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
Eur J Hum Genet. 2007 Jun;15(6):679-84. Epub 2007 Mar 7., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC8 p.Ala1369Ser Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD40.9) is responsible for the known association between KCNJ11 and T2D. Login to comment 15 ABCC8 p.Ala1369Ser Rare mutations in KCNJ1114 can lead to neonatal diabetes and hyperinsulinaemia of infancy (depending on the direction of their effect on channel function).15 Previous comprehensive tagging studies have demonstrated that common variation within the single exon of KCNJ11, in particular the E23K variant (which is in almost complete LD (40.9) with the A1369S variant within the neighbouring ABCC8 but with no other nonsynonymous variants in KCNJ11), is heavily implicated in susceptibility to multifactorial T2D.16 Furthermore, E23K is the polymorphism within KCNJ11 most likely to be aetiological for T2D, on both statistical and functional grounds.16-19 Given the strong metabolic, physiological and epidemiological overlap between PCOS and T2D (thereby obviating the need for retagging of KCNJ11 in PCOS), we set out to test the hypothesis that the E23K polymorphism might impact on PCOS risk, through case-control studies and analysis of androgen levels as a continuous phenotype relevant to PCOS. Login to comment