PMID- 30318704 OWN - NLM STAT- MEDLINE DCOM- 20191104 LR - 20211204 IS - 1552-485X (Electronic) IS - 1552-4841 (Linking) VI - 177 IP - 7 DP - 2018 Oct TI - Ethnic variation of IL-4 intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects. PG - 635-640 LID - 10.1002/ajmg.b.32647 [doi] AB - Type 2 diabetes mellitus (T2DM) has multigenetic and environmental interactive factors. Although diabetic neuropathies (DPN) are the most common, but at the same time, the least recognized and understood long-term complication of diabetes. This study aimed to investigate the association of IL-4 VNTR gene polymorphism with T2DM complicated with neuropathy in Egyptian subjects. This is a case control study including 102 T2DM Egyptian patients, plus 188 unrelated healthy individuals as controls. They were evaluated for variable number tandem repeat (VNTR); 70 base pair repeats located in the intron 3; of IL-4 gene using the PCR technique. Homozygote frequency of the three-repeat allele (A1/A1) genotype of IL-4 VNTR was nearly equal among diabetic cases and controls (60.8% vs. 62.2%, respectively). Heterozygous frequency of (A1/A2) genotype was higher among controls compared to cases (33.5% vs. 19.6%, respectively) but not statistically significant. The (A2) allele had a significantly higher frequency in diabetic cases compared to controls (29.3% vs. 21.0%, respectively) while the (A1) allele had lower frequency but not significant one (70.7% vs. 79.0%, respectively). Comparing cases complicated with diabetic neuropathy vs. noncomplicated cases regarding their polymorphic IL-4 (VNTR) genotypes revealed a nonsignificant lower frequency of (A1A1) genotype (57.1% vs. 65.1%, respectively, p = .57) with a higher combined (A2A2 + A1/A2) genotype frequency (42.9% vs. 34.9%, respectively). Only two haplotypes (A1) & (A2) of IL-4 (VNTR) gene were recognized among Egyptian population; (A2) allele may influence in diabetes but not its complication (neuropathy) among Egyptian diabetic patients. CI - (c) 2018 Wiley Periodicals, Inc. FAU - Ali, R AU - Ali R AUID- ORCID: 0000-0003-3703-0548 AD - Clinical Laboratory Sciences Department, Faculty of Applied Medical Sciences, Taibah University, Al-Madinah Al Monawara, Kingdom of Saudi Arabia. AD - Genetics Unit, Children Hospital, Faculty of medicine, Mansoura University, Mansoura, Egypt. FAU - El-Said, A AU - El-Said A AD - Genetics Unit, Children Hospital, Faculty of medicine, Mansoura University, Mansoura, Egypt. FAU - El-Baz, H AU - El-Baz H AD - Biochemistry Dept., Genetic Engineering and Biotechnology Division, National Research Centre, Cairo, Egypt. AD - Clinical Biochemistry Department, Faculty of Medicine, University of Jeddah, Jeddah, Kingdom of Saudi Arabia. FAU - Settin, A AU - Settin A AD - Pediatrics and Genetics Department, Faculty of Medicine, Mansoura University, Egypt. LA - eng PT - Journal Article DEP - 20181014 PL - United States TA - Am J Med Genet B Neuropsychiatr Genet JT - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics JID - 101235742 RN - 0 (IL4 protein, human) RN - 207137-56-2 (Interleukin-4) SB - IM MH - Adult MH - Aged MH - Case-Control Studies MH - Diabetes Mellitus, Type 2/*genetics/metabolism MH - Diabetic Neuropathies/*genetics/metabolism MH - Egypt/epidemiology MH - Ethnicity/genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - Genetic Variation MH - Genotype MH - Humans MH - Interleukin-4/*genetics/metabolism MH - Introns MH - Male MH - Middle Aged MH - Minisatellite Repeats MH - Polymorphism, Genetic OTO - NOTNLM OT - IL-4 (VNTR) neuropathy OT - alleles OT - diabetes mellitus OT - polymorphism EDAT- 2018/10/16 06:00 MHDA- 2019/11/05 06:00 CRDT- 2018/10/16 06:00 PHST- 2018/02/26 00:00 [received] PHST- 2018/04/30 00:00 [revised] PHST- 2018/05/04 00:00 [accepted] PHST- 2018/10/16 06:00 [pubmed] PHST- 2019/11/05 06:00 [medline] PHST- 2018/10/16 06:00 [entrez] AID - 10.1002/ajmg.b.32647 [doi] PST - ppublish SO - Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):635-640. doi: 10.1002/ajmg.b.32647. Epub 2018 Oct 14.