We investigated genetic susceptibility to coronary artery disease (CAD) by studying the association of MKL1 gene polymorphisms with CAD in the Chinese Han population. We performed a case-control study with 476 unrelated CAD patients and 325 non-CAD controls. All SNPs were genotyped with a TaqMan SNP genotyping assay. The distribution of MKL1-184C>T gene polymorphism in each group was in Hardy-W...

The gene of Cytotoxic T Lymphocyte-associated Antigen 4 (CTLA4), a negative regulator of T lymphocytes, contains a single-nucleotide polymorphism (SNP) at position +6230A->G (ct60A->G), which has been found associated with several autoimmune diseases and appears to reduce T-cell inhibitory activity. In Ghana, West Africa, we compared the frequencies of CTLA4 +6230 A/G and 6 haplotype-tagging SN...

The coronary artery disease (CAD) is one of the most severe cardiovascular diseases. MicroRNA-146a (miR-146a) influences the pathology of cardiovascular diseases. Two single nucleotide polymorphisms (SNPs) of miR-146a (rs2431697 and rs2910164) have been reported to alter the function or expression of microRNA. The purpose of this study is to evaluate the association between miR-146a gene polymo...

Aim: Irritable bowel syndrome (IBS) defined by chronic or recurrent abdominal pain discomfort and changes in habits, is the most common functional gastrointestinal disorder. Studies proved that polymorphisms genes were one of key roles underlying IBS. This study aimed to investigate genotypes allele frequencies IBS-associated single nucleotide polymorphism (SNP) from GNB3 (rs54443) SCN5A (rs801...

Apolipoprotein E (apo E) is a structural constituent of several serum lipoprotein classes. It plays an important role in lipid metabolism by acting as a ligand for low-density lipoprotein (LDL) and chylomicron remnant receptors. Three common alleles called e2, e3 and e4 have been described, which code for three protein isoforms (E2, E3 and E4). The polymorphism is clinically significant, and it...

At present WHO considers arterial hypertension (AH) as the most frequent cause of death that can potentially be prevented. Timely diagnosis, preventive measures, and use adequate pharmacotherapy delays progression disease, reduces risk complications, improves quality life helps to maintain working capacity. The onset is associated with numerous factors, including environmental, genetic factors ...

The homeobox A (HOXA) region of protein-coding genes impacts female reproductive system embryogenesis and ovarian carcinogenesis. The 5-prime end of HOXA includes three long non-coding RNAs (lncRNAs) (HOXA10-AS, HOXA11-AS, and HOTTIP) that are underexplored in epithelial ovarian cancer (EOC). We evaluated whether common genetic variants in these lncRNAs are associated with EOC risk and/or have ...

Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients. Here we expand the role of GRN in FTLD-U and demonstrate that a common genetic variant (rs5848), located in the 3'-untranslated region (UTR) of GRN...