The effect of UGT1A1 promoter polymorphism in the development of hyperbilirubinemia and cholelithiasis in hemoglobinopathy patients.

Present study was aimed to explore the effect of (TA)n UGT1A1 gene promoter polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in Sickle-Cell Anemia (SCA) and beta-Thalasemia major (bTH) in Kuwaiti subjects compared to other population. This polymorphism was analyzed and correlated to total bilirubin and cholelithiasis in 270 age, gender, ethnically matched subjects (92 bTH, 116 SCA and 62 Controls) using PCR, dHPLC, fragment analysis and direct sequencing. Four genotypes of UGT1A1 were detected in this study (TA6/6, TA6/7, TA6/8 and TA7/7). (TA)6/8 was found only in four individuals; hence it was not included in the analysis. There was a statistically significant association of genotypes with serum total bilirubin levels in both bTH and SCA groups (p<0.001). Subjects with (TA)7/7 had the highest total serum bilirubin level (178.7 ± 3.5 µmole/l). A significant association was observed between allele (TA)7 and cholelithiasis development (p = 0.0001). The 40%, 67.5% and 100% of SCA with (TA)6/6, (TA)6/7 and (TA)7/7 respectively developed cholelithiasis and were subsequently cholecystectomized. Our results confirm UGT1A1 (TA)7 allele as one of the factors accounting for the hyperbilirubinemia and cholelithiasis observed in SCA and bTH

Research and Development as a Moderating Variable for Sustainable Economic Performance: The Asian, European, and Kuwaiti Models

The research and development (R&amp;D) expenditure in Kuwait is insufficient to lead to innovation and a knowledge economy. Investment in R&amp;D has been shown to sustain elevated economic performance. The objective of this study is to explore the association between three competing dimensions of R&amp;D indicators that lead to sustainable economic performance within any given country, namely, R&amp;D expenditure, the number of researchers, and the number of patent rights, using time-series data collected over a 20-year period (1996&ndash;2016) by the World Bank Group. R&amp;D indicators were compared between high- and middle-income countries including models from Asian (South Korea, Singapore, and Malaysia) and European (Finland and Ireland) countries as well as the State of Kuwait. Moreover, a case study describing R&amp;D investments in Kuwait is presented. Overall, the results reveal higher R&amp;D spending, number of researchers, and gross domestic product (GDP) per capita for the Asian and European models. Current R&amp;D expenditure in Kuwait is estimated at 0.08% of GDP (2016), which is significantly lower than the mean of the middle-income countries (1.58%). Furthermore, the number of researchers (per million) in Kuwait (386) is less than half of the mean number of researchers in middle-income countries (775) (2015). Low R&amp;D investments in the State of Kuwait has gradually led to a decreased GDP per capita. Regression analysis shows that GDP per capita can be predicted solely based on the number of researchers (beta = 0.780, R2 = 0.608). The number of researchers is the most crucial variable to predict GDP per capita, and the R&amp;D expenditure is a good indicator of the number of researchers. These findings offer invaluable insight into the sustainable development goals (SDG 9). To our knowledge, this paper presents the first application of the effect of R&amp;D on sustainable economic performance with reference to the SDG target 9.5 &ldquo;Research &amp; Development&rdquo;. Thus, in order to enhance scientific research (both academic, professional, and industrial), countries need to increase the number of researchers, and these actions are necessary to introduce sustainable growth to GDP

Bilirubin levels ( µmol/L) in SCA patients with and without gallstone disease.

<p>Bilirubin levels ( µmol/L) in SCA patients with and without gallstone disease.</p

Characteristics of study subjects.

<p>Characteristics of study subjects.</p

Allele and genotype frequencies of <i>UGT1A1</i> promoter polymorphism in SCA diagnosed with or without gall stone.

<p>Allele and genotype frequencies of <i>UGT1A1</i> promoter polymorphism in SCA diagnosed with or without gall stone.</p

Analysis of <i>UGT1A1</i> promoter polymorphism in SCA and bTH subjects using logistic regression.

<p>Analysis of <i>UGT1A1</i> promoter polymorphism in SCA and bTH subjects using logistic regression.</p