THE ATP-BINDING CASSETTE TRANSPORTER A1 GENE POLYMORPHISMS AND TYPE 2 DIABETES MELLITUS.

Insulin resistance (IR), secretion of insulin, and abnormalities of lipid metabolism are all markers of type 2 diabetes (T2DM), which is a progressive and complex metabolic disorder. Major risk factors for the development of T2DM were identified as genetic, environmental, and lifestyle factors. Several studies found that many genes contribute to T2DM susceptibility after glucose tolerance. Adenosine Binding Cassette Transporter Proteins 1 is a member of the ABC gene superfamily that is involved in cholesterol transport and HDL cholesterol (HDL-C) biosynthesis. Abnormal cholesterol metabolism, particularly high-density lipoprotein, has been related to genetic variations in the ABCA1 gene (HDL-C). Previous research suggested that ABCA1 gene polymorphisms may a hereditary risk factor for type 2 diabetes, along with lower HDL levels in various populations.

Association of the ATP-binding Cassette Transporter A1 Gene Polymorphismo with Lipid Profile and Tye 2 Diabetes Mellitus

Diabetes remains unique among the main non-communicable ailments (NCDs) recognized by the World Health Organization (WHO), apart from the circulatory diseases, tumours, and long-lasting respiratory ailments. The current study aimed to determine the correlation between ABCA1 gene polymorphismo and lipid profile in type 2 diabetes mellitus patients. Serum samples from 100 type 2 diabetes mellitus patients (46 males and 54 females) and 50 standard subjects (26 males and 24 females) were colected from Najaf province/Irak. Fasting blood sugar (FBS), and lipid profiles (total cholesterol (TC), triglycerides (TH), HDL, LDL, and VLDL) were meassured. Plymerase chain reaction (PCR) with the Taq1 enzye was used for the amplification of the ABCA1 gene, which contains 525bp of the AABCA1 gene in the locus V825I. The present study revaled a positive corrrelation between FBS and body mass index (BMI) (r= 0.2390, p= 0.0463), TG (r = 0.1836, p= .01743), and VLDL (r = 0.1836, p = 0.1839). The frequencies of the GG genotype and the G allele were higher in the normal groups compared to the patientes (58% vs. 56% and 70% vs. 67%, respectively); conversely, the frequencies of the AA genotype (18% vs. 22%) and the A allele (30% vs. 33%) were higher in the patients compared to the normal groups. The data also showed a significant relationship between ABCA1 gene polymorphim and both TG and VLDL (P=0.007 for cach). There is relationship between the ABCA1 gene and HDL level. Additiionally, the G allele could be a defensive factor against diabetes mellitus in Iraqi peole (AU)

Association of ABCA1 rare nonsynonymous variants with primary open angle glaucoma / 中华实验眼科杂志

Objective To explore the rare nonsynonymous variants of ABCA1 gene in primary open angle glaucoma (POAG).Methods A prospective cohort study was carried out.Three hundred and ninety-eight POAG patients and 198 healthy controls matched in age and gender were recruited from March 2017 to March 2018 in Eye and Ear Nose Throat (ENT) Hospital of Fudan University.The periphery blood of 2-5 ml from all the subjects was collected for extraction of DNA,and rare variant analysis of the ABCA1 gene was conducted by whole exome sequencing (WES) data of these subjects.The study protocol was approved by Ethic Committee of Eye and Ear Nose Throat Hospital of Fudan University and Sichuan Provincial People's Hospital (No.2016-32-1,and written informed consent was obtained from each subject prior to entering the study cohort.Results A total of 21 rare nonsynonymous variants (minor allele frequency MAF＜0.O1) were detected in the coding regions of ABCA1 gene in 27 subjects of the 398 POAG,with the detection rate of 6.8％.Among them,c.4310C＞A (p.Thr1437Asn),c.3772G＞T(p.Asp1258Tyr),c.775A＞G (p.Lys259Glu) and c.1507_1508insGAGGT (p.Glu503GlyfsX7) were four novel variants.In the 198 healthy controls,five rare nonsynonymous variants were detected in the ABCA1 gene from five subjects respectively,with the detection rate of 2.5％,the detection rate of nonsynonymous in POAG group was higher than that in healthy control group,showing a significant difference (x2=4.72,P =0.03,OR =2.81).Conclusions Rare nonsynonymous variants in ABCA1 is associated with the pathogenesis of POAG.These variants can enrich the variation spectrum of ABCA1.