Study of rs693 and rs515135 in APOB in people with familial hypercholesterolemia

Objective: APOB-related familial hypercholesterolemia [FH] is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Small changes in the structure and function of APOB can cause major problems in lipid metabolism. Two forms of APOB are produced by an editing process of gene replication. APOB48 is required for the production of chylomicrons in the small intestine and APOB100 is essential in liver for the production of very low density lipoprotein [VLDL] and is also a ligand for LDL receptor [LDLR] that mediates LDL endocytosis

Materials and Methods: In this case-control study, rs693 [in exon 26 of APOB] and rs515135 [5 'end of APOB] single nucleotide polymorphisms [SNPs] were analyzed in 120 cases of familial hypercholesterolemia and 120 controls. Both SNPs were genotyped by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] where PCR products were digested with specific restriction enzymes recognising each single nucleotide polymorphism

Results: This study was analyzed by odds-ratio [OR] and its 95% confidence interval [CI] to examine the association of the two SNPs with familial hypercholostermia susceptibility. Statistical analysis showed that both SNPs were in Hardy- Weinberg equilibrium

Conclusion: We found no significant relationship between rs515135 and familiar hypercholesterolemia. However, there was a significant association between the C allele of rs693 and high familial cholesterol levels. Furthermore, it seems the dominant model of T allele occurrence has a protective role in emergence of disease

Keloid Scarring: Understanding the Genetic Basis, Advances, and Prospects

Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.

Chromosomal abnormalities in Iranian infertile males who are candidates for assisted reproductive techniques

The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs. Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belonging to male partner of each couple were classified as follows: azoospermic, oligozoospermic and patients with low sperm quality in respect of morphology and motility. Chromosomal abnormalities were observed in 136[15.5%] individuals of the whole population studied including 12.0%, 1.2% and 2.0% of azoospermic, oligozoospermic and patients with low sperm quality, respectively. Of those, 116 [13.2%] had sex chromosome abnormalities and 20[2.3%] had autosomal chromosome abnormalities. We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. We suggested that type of chromosomal abnormalities had an inverse relation to sperm count. So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. Chromosomal abnormalities are a major cause of male infertility. Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques