OBJECTIVE A recent genome-wide association study meta-analysis identified an intronic single nucleotide polymorphism in SMAD3, rs56062135C>T, the minor allele (T) which associates with protection from coronary artery disease. Relevant to atherosclerosis, SMAD3 is a key contributor to transforming growth factor-β pathway signaling. Here, we seek to identify ≥1 causal coronary artery disease-asso...

background: cells have complex network of antioxidant enzymes that protect cells from induced damages by reactive oxygen species (ros). catalase and superoxide dismutase are known for their role as primary protection against oxidative stress. oxidative damage is an important risk factor in age-related macular degeneration disease (amd). for the first time in this study the impact of genetic pol...

Genome-wide association studies have revealed a large number of genetic associations with autoimmune diseases. Despite this progress, the mechanisms underlying the contribution of allelic variants to the onset of immune-related diseases remain mostly unknown. Our recent meta-analysis of genome-wide association studies of multiple sclerosis (MS) identified a new susceptibility locus tagged by a ...

BACKGROUND The microsomal triglyceride transfer protein (MTP) is involved in hepatic and intestinal apoB secretion. We studied the effect of the functional MTP-493G/T polymorphism on fasting and postprandial lipoproteins in patients with familial combined hyperlipidemia (FCH) before and after treatment with atorvastatin. METHODS Eight FCH heterozygote carriers of the rare -493T allele were co...

PCR-based solid-phase minisequencing method was used to analyze the steady-state mRNA levels of the porphobilinogen deaminase gene in eight patients with acute intermittent porphyria. The patients had the earlier characterized mutations 517C --> T (R173W), 518G --> A (R173Q), 673C --> G (R225G), 673C --> T (R225X), 713T --> G (L278P), and 1073delA (frame shift). All mutations, except the missen...

OBJECTIVE To investigate whether polymorphism in the transforming growth factor beta1 (TGFbeta1) gene is associated with disease outcome in rheumatoid arthritis. METHODS 208 patients with established rheumatoid arthritis were genotyped for the TGFbeta1 T869C polymorphism using an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method. Disease severity was assesse...

We examined linkage between markers at and near the IL4 gene and atopic dermatitis (AD) in 88 Japanese nuclear families. Affected sib pair analysis suggested linkage between the IL4 gene and AD (SPLINK lod=2.28). Transmission disequilibrium testing showed a significantly preferential transmission to AD offspring of the T allele of the -590C/T polymorphism of the IL4 gene (p=0.001). A case-contr...

Prohibitin is a candidate tumor suppressor gene located on human chromosome 17q21, a region of frequent loss of heterozygosity in breast cancers. We showed previously that microinjection of RNA encoded by the prohibitin gene 3'untranslated region (3'UTR) blocks the G(1)-S transition causing cell cycle arrest in several human cancer cell lines, including MCF7. Two allelic forms (C versus T) of t...

The taste of sensitivity Phenylthiocarbamide (PTC), is autosomal dominant trait inherited. taster controled by allele while the non-taster determinated recessive allele. purpose this study was to determine prevalence and frequency alleles for PTC, as well inheritance patterns at population Gili Ketapang island, Probolinggo district. Determination sample or respondents carried out randomly, tota...

Surfactant protein B (SP-B) is essential for lung function. Previous studies have indicated that a SP-B 1580C/T polymorphism (SNP rs1130866) was associated with lung diseases including pneumonia. The SNP causes an altered N-linked glycosylation modification at Asn129 of proSP-B, e.g. the C allele with this glycosylation site but not in the T allele. This study aimed to generate humanized SP-B t...