GENEtic hyperchylomicronemia is a rare autosomal recessive disorder of LIPOPROTEIN metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’ s a GENEtic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The GENEtic study found a mutation of the LIPOPROTEIN Lipase (LPL) GENE: homozygous pathogenic variant c. 1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration of <12 g/l, after a digestive rest of five days. This mutation is the second case discovered in the world and the first case in children. The identification of the molecular etiology of these dyslipidemias explain the wide variety of phenotypes observed, some of which are accessible to targeted therapies.

BACKGROUND: ApoLIPOPROTEIN E (ApoE) GENE encodes an important protein in reforming injuries of central nervous system (CNS). It is assumed that various ApoE alleles may be functionally different. The purpose of this study was to investigate the distribution of ApoE genotypes in multiple sclerosis (MS) patients in a small cohort of Iranians.METHODS: In this case-control study, blood samples of patients and healthy volunteers were collected (n=40) from Neurology Clinic of Alzahra Medical Complex. The ApoE genotypes were determined using DNA extracted from the samples by polymerase chain reaction (PCR) techniques followed by digestion with HhaI restriction enzyme. The results were adjusted for age of MS onset, sex, expanded disability status scale (EDSS), and type of MS (primary or secondary progressive). Results were statistically analyzed using chi-square test.RESULTS: The ApoE3/E3 genotype was detected in the majority of MS patients and the control group. Frequency distribution of E4 allele did not differ significantly between the two groups. There was no difference between ApoE allele and age of disease onset, sex, expanded disability status, or type of multiple sclerosis.CONCLUSIONS: We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. Despite the fact that small sample size was a limitation for our study, it seems that ApoE polymorphism may not be useful as a marker for screening patients with multiple sclerosis.

The study designed to assess the association of LIPOPROTEIN Lipase GENE polymorphism with CAD. The study consists of two groups, the first group includes 93 patients with CAD and the second group includes 81 subjects with no sign, no symptom and no history of CAD. Genotyping of LPL GENE polymorphism [HindIII T↔G (SNP)] was done by PCR-RFLP. The results of present study revealed study show that TT and TG genotypes of LPL GENE polymorphism [HindIII T↔G (SNP)] was found to be non-significantly increase  the risk of CAD with respect to those of the GG genotypes of LPL GENE polymorphism [HindIII T↔G (SNP)] respectively. Moreover, the outcomes of the study show that a significant increase of serum triglycerides concentration in the TT genotype of LPL GENE polymorphism [HindIII T↔G (SNP)] when compared with GG genotype of LPL GENE polymorphism [HindIII T↔G (SNP)] in patients with CAD. This study conclude that the LPL GENE polymorphism [HindIII T↔G (SNP)] was not associated with CAD and the TT genotype of LPL GENE polymorphism [HindIII T↔G (SNP)] associated with increase triglycerides in patients with CAD.

Objective(s): Stroke is the most common neurological disorder and GENEtic susceptibility has an important role in its etiology. Polymorphism in several GENEs such as LIPOPROTEIN lipase (LPL) is propounded as a risk for stroke. This meta-analysis investigated the association of rs285 and rs320 LPL polymorphism with stroke risk. Materials and Methods: We searched PubMed, Clarivate Analytics Web of Science, Google Scholar, and Science Direct databases for appropriate studies. The odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to estimate the strength of this association. Also, the effects of four common polymorphisms (rs268, rs285, rs320, and rs328) on the molecular aspects of LPL were evaluated by in silico tools. Five studies were included in meta-analysis after screening. Results: Our data indicated that rs320 significantly decreased the risk of stroke (G vs. T: OR= 0. 64, 95%CI=0. 54-0. 76; GG vs. TT: OR=0. 47, 95%CI=0. 29-0. 75; TG vs. TT: OR=0. 65, 95%CI=0. 53-0. 80; TG+GG vs. TT: OR=0. 62, 95%CI=0. 51-0. 75; GG vs. TT+TG: OR=0. 51, 95%CI=0. 32-0. 82). Moreover, a significant association between rs285 and diminution of stroke risk was seen (P-vs. P+: OR=0. 72, 95%CI=0. 58-0. 91; P-P-vs. P+P+: OR=0. 50, 95%CI=0. 31-0. 82; P+P-+P-P-vs. P+P+: OR=0. 72, 95%CI=0. 53-0. 96; P-P-vs. P+P++P+P-: OR=0. 581, 95%CI=0. 369-0. 916). Also, the same results were observed after stratifying, without any publication bias (PEgger>0. 05). Furthermore, computational analysis revealed that rs268 and rs328 may affect the protein structure (prediction: non-neutral; score=19; expected accuracy=59%) while rs320 could affect the RNA structure (distance=0. 2264, P-value=0. 0534; P<0. 2 is significant). Conclusion: This meta-analysis indicated that risk of stroke was decreased in rs320 and rs285 polymorphisms in the LPL GENE.

Background: LIPOPROTEIN (a) [Lp(a)], as an independent risk factor for cardiovascular disease, is more likely to be GENEtically determined according to the increasing evidence of epidemiologic and clinical studies in recent years. Peroxisome proliferator-activated receptor (PPAR)γ , the ligand-activated transcription factors, was con-sidered as an indispensable role in the process of lipid metabolism. This study was designed to explore the as-sociations of three single-nucleotide polymorphisms (SNPs) and the haplotypes of the peroxisome proliferator-activated receptor (PPAR)γ GENE with the level of Lp(a). Methods: Participants were recruited under the framework of the PMMJS (The Prevention of Metabolic Syn-drome (MS) and Multi-metabolic Disorders in Jiangsu Province of China Study) from Apr 1999 to Jun 2004. Overall, 644 subjects were randomly selected and 3 SNPs of PPARγ GENE (rs10865710, rs1805192, rs4684847) were genotyped. Results: After adjusting for age, sex, cigarette smoking, alcohol drinking, waist circumference and body mass index, rs4684847 was significantly associated with Lp (a). The presence of the rs4684847 T allele (CT+TT) have a lower level of Lp (a) than the allele (CC) in the dominant model, mean difference was-27. 30 (95%CI:-52. 88~-1. 73) mg/L, P<0. 05. G-P-T and G-A-T haplotype were associated with lower levels of Lp (a) (P=0. 0041 and<0. 0001), mean difference was 49. 79(95%CI:-97. 52~-2. 06) mg/L and 17. 75(95%CI:-25. 75~-9. 75) mg/L. Conclusion: PPAR gamma polymorphisms (rs10865710, rs1805192, rs4684847) and haplotypes may be the GENEtic risk factors for Lp (a) level.

Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density LIPOPROTEIN Receptor (LDLR) GENE. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR and hence cholesterol metabolism disorder. The aim of this study was identifying genotype of possible mutation in an Iranian FH patient. Materials and Methods: Promoter and all 18 exons including exon-intron boundaries of LDLR GENE were scanned. Polymerase chain reaction - single strand conformation polymorphism (PCRSSCP) was used as mutation scanning method. DNA sequencing was used to identify any nucleotide change(s). Results: A new frameshift mutation (660-661InsCC) was found in proband. Conclusion: This mutation causes a truncated, non-functional protein, which results in hypercholesterolemia. The mutation can be screened in proband's relatives to find other FH patients.