BACKGROUND The Gγ-158(C→T) polymorphism plays important function in the clinical variability of HbE/β-thalassemia. There is little known about Gγ-158(C→T) polymorphism in HbE/β-thalassemia major in Southern China. This study aimed to explore the association between HbE/β-thalassemia major and this polymorphism in Southern China. METHODS AND RESULTS The frequency of the Gγ-158(C→T) polymorphis...

OBJECTIVE We studied the association between type 1 diabetes with autoimmune thyroid disease (AITD) and A/G allele polymorphism in exon 1 of the CTLA-4 gene in a Japanese population. RESEARCH DESIGN AND METHODS We studied 74 Japanese type 1 diabetic patients with or without AITD and 107 normal subjects to identify the association between CTLA-4 polymorphism and type 1 diabetes using polymeras...

Single-Nucleotide Polymorphism of rs11061971 (+219 A>T) in Adiponectin Receptor 2 (AdipoR2) Gene and its Association with Risk Type Diabetes among Iranian Population

Several investigations have focused on the relationship between paraoxonase-1 (PON-1) polymorphisms and the risk of polycystic ovary syndrome (PCOS); however, the result remains conflicting. To obtain a more precise estimation of the correlation between PON-1 polymorphisms [rs705379 C>T (-108C/T), rs854560 T>A (55Leu/ Met) and rs662 A>G (192Gln/Arg)] and the risk of PCOS, we performed a meta-an...

The development of microsatellite loci has become more efficient using next-generation sequencing (NGS) approaches, and many studies imply that the amount of applicable loci is large. However, few studies have sought to quantify the number of loci that are retained for use out of the thousands of sequence reads initially obtained. We analyzed the success rate of microsatellite loci development ...

BACKGROUND To investigate the association of single-nucleotide polymorphisms (SNPs) in matrix metalloproteinases (MMPs)-2, -3, and -9 and tissue inhibitor of metalloproteinase (TIMP)-2 with moyamoya disease (MMD). We conducted a case-control study of MMD patients by assessing the prevalence of six SNPs of MMP-2 -1575G > A [rs243866], MMP-2 -1306C > T [rs243865], MMP-3 -1171 5a/6a [rs3025058], M...

BACKGROUND Prohibitin 3' untranslated region 1630 C>T (rs6917) polymorphism creates a variant T allele that lacks the antiproliferative activity of the more common functional C allele. Previous studies indicate that women carrying the prohibitin T allele have an increased susceptibility to breast cancer. However, the role of 1630 C>T polymorphism in mRNA expression of prohibitin and its contrib...

It has been proposed that paraoxonase1 (PON1), a high density lipoprotein (HDL)-associated esterase/lactonase, has anti-atherosclerotic properties. The activity of PON1 is influenced by PON1 polymorphisms. However, the influence of PON1 polymorphisms on PON1 activity and oxidative stress in response to lipid-lowering drugs remains poorly understood. The objective of the present study was to inv...

background: pulmonary tuberculosis (ptb) has recently become a major problem in developed countries especially in immune compromised hiv infected individuals. cytokines, their genes and receptors have been implicated in the protective immunity, pathophysiology and development of tuberculosis.   material & methods: in the present study the genotype frequencies of a number of polymorphic genes co...