title: Insertion/Deletion polymorphisms do play any role in G6PD deficiency individuals in the Kingdom of the Saudi Arabia.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme in the pentose phosphate pathway (PPP) that plays an important role in protecting cells from oxidative damage by producing NADPH and reduced glutathione. G6PD deficiency is considered one of the most common genetic disorders present in the X chromosome and is the most common of enzymopathic red blood cell disorder. Angiotensin converting enzyme (ACE) plays an essential role in two physiological systems, one leading to the production of angiotensin II and the other to the degradation of bradykinin. Most studies focused on an insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene as a marker for a functional polymorphism. The α(2B)-adrenergic receptor gene (α(2B)AR) is a three-amino acid deletion (12Glu9) polymorphism is located on chromosome 2. (Glu(9)/Glu(9)) of this polymorphism has been first time studies in G6PD individuals. We have selected 39 G6PD deficiency male individuals and PCR was carried out with the I/D polymorphisms. ACE I/D polymorphism study was carried out in G6PD individuals and showed strong association with DD genotypes and D alleles OR=39.38, p<0.0001 (95% CI=8.80-176.1) and OR=38.58, p<0.0001 (95% CI=13.21-112.6). Another gene of α(2B)AR I/D polymorphism study cannot show any association in DD genotype OR-0.6882,p=0.9388 (95% CI=0.2035-2.327) and with D allele OR-0.9614,p=0.9388 (95% CI=0.3482-2.653). Our study shows that G6PD deficiency is showing strong association in DD genotype and D allele of ACE gene and α(2B)AR gene have not shown any important role and one of the reason could be the low sample size.
authors: Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Kingdom of Saudi Arabia.
authors: Khalid K
authors: KK
authors: Alharbi
authors: Imran Ali
authors: IA
authors: Khan
authors: Alaa Salem A
authors: AS
authors: Abed
authors: Rabbani
authors: R
authors: Syed
keywords: ACE; G6PD; Insertion/ Deletion; PCR and Saudi Arabia; α2BAR
references: J Clin Invest. 1990 Oct;86(4):1343-6
references: 1976655
references: BMC Genet. 2008 Jan 22;9:8
references: 18211670
references: Obes Res. 2003 Aug;11(8):962-70
references: 12917501
references: Biol Direct. 2006 Aug 30;1:24
references: 16942619
references: Chin Med J (Engl). 2005 Nov 5;118(21):1797-802
references: 16336817
references: Ann Saudi Med. 2001 May-Jul;21(3-4):174-7
references: 17264545
references: Int J Lab Hematol. 2010 Feb;32(1 Pt 2):17-21
references: 20447239
references: Singapore Med J. 2010 Jul;51(7):576-81
references: 20730398
references: Malar J. 2011 Aug 17;10:241
references: 21849081
references: Lancet. 2008 Jan 5;371(9606):64-74
references: 18177777
references: Hematology Am Soc Hematol Educ Program. 2005;:19-23
references: 16304354
references: Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):152-8
references: 22770933
references: J Neurol Sci. 2008 Sep 15;272(1-2):132-5
references: 18586276