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Aim: This cross-sectional study investigated the effect of the vitamin D receptor (VDR) FokI polymorphism and its interactions with smoking/drinking on the proportions of periodontal pathogens and periodontitis severity., Materials and Methods: FokI genotyping and bacterial quantification were performed using real-time polymerase chain reaction. Periodontitis severity was determined using mean clinical attachment level (CAL). Regression analyses examined the associations between the FokI polymorphism (rs2228570) and bacterial proportions or periodontitis severity. Effect modification by smoking or drinking was assessed., Results: The study population comprised 1,460 individuals, aged 39-66 years. After multivariable adjustment, the FokI risk genotypes (CC + CT) were associated with elevated Porphyromonas gingivalis proportions (regression coefficient (β) =0.294 ± 0.139; p = .034) and increased mean CAL (β = 0.130 ± 0.048; p = .007). The effect of the FokI polymorphism on P. gingivalis proportions was greater in smokers (β = 0.897 ± 0.328; p = .006) compared to non-smokers (β = 0.164 ± 0.153; p = .282) and in drinkers (β = 0.668 ± 0.242; p = .006) compared to non-drinkers (β = 0.114 ± 0.169; p = .500). The genotype*smoking interaction for P. gingivalis proportions was significant (p = .043), whereas the genotype*drinking interaction was not (p = .061). Similar results were found for the effect of the genotype*smoking/drinking interaction on mean CAL., Conclusions: These findings suggest that the interplay between the host genotype and smoking is important in determining the subgingival microbial composition and periodontitis severity., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training programs are in academic training centers where exposure to patients in the clinics or in the hospital is a major component. This setting provides trainees with knowledge and skills to be competent geneticists and genetic counselors in a variety of patient care interactions. Majority of the training programs combine clinical and research training which provide trainees a broad and integrated approach in the diagnosis and management of patients while providing opportunities for research discoveries that can be translated to better patient care. The background on how the training programs in clinical genetics and genetic counseling in Asia evolved to their current status are described. Each of these countries can learn from each other through sharing of best practices and resources., (© 2019 Wiley Periodicals, Inc.)

Bone marrow transplantation is the only therapeutic option that can potentially eliminate thalassemic disease. Early results indicated that children in Class 3 Lucarelli had a much worse outcome because of high nonrejection mortality and high rejection rate. In the present study, reduced intensity stem cell transplantation (RIT) was performed in eight Class 3 Lucarelli patients conditioned by busulfan, fludarabine, and antilymphpcute globulin. One of the eight patients additionally received thiotepa, and total lymphoid irradiation (TLI), while one only received TLI. All patients received hydroxyurea 20 mg/kg/day daily >/=3 months before RIT. Peripheral blood stem cell (PBSCs) were given to a target number of CD34(+) cells more than 5 x 10(6) cells/kg of recipient weight. Seven patients received T cell nondepleted PBSCs from matched siblings while one patient received purified CD34(+) cells from two HLA antigen mismatched maternal PBSCs. The graft-versus-host disease (GvHD) prophylaxis included cyclosporine or tacrolimus and mycophenolate mofetil. Initially, an engraftment of donor cells was observed in all eight patients, but subsequently only six of eight patients had stable full donor engraftment. There were no deaths or Grade 3-4 acute GvHD in our patients. The present study lends support that the regimens described here produced minimal toxicity and resulted in stable full donor engraftment in the majority of the severe Class 3 Lucarelli thalassemia patients.

We investigated the prevalence of a genetic variation in the factor V gene (G1691A Leiden mutation) and the prothrombin gene (G20210A) using polymerase chain reaction techniques in samples from 500 normal Thai population and among 50 unselected Thai patients with an objectively confirmed history of deep venous thrombosis. The prevalence of factor V Leiden and the prothrombin G20210A gene mutation in a group of 500 healthy controls was 0.2% in both groups (allele frequency of 0.1%). Of the 50 adult patients studied, none was a carrier of factor V Leiden or the prothrombin G20210A gene mutation. Our findings confirm that the prevalence of factor V Leiden and prothrombin G20210A gene mutation is lower among Asians than Caucasians and that the distribution of factor V Leiden is similar to that of the prothrombin G20210A variant. The low prevalence of these two mutations can, at least in part, account for the lower frequency of deep venous thrombosis reported in the Thai population. Screening for factor V Leiden and prothrombin gene mutation is of limited benefit and may not be cost-effective in Thai patients with the first episode of deep venous thrombosis., (Copyright 2000 Wiley-Liss, Inc.)

We have defined the molecular basis of normal HbA2 beta-thalassaemia associated with Hb Knossos. DNA sequence analysis of the delta globin gene in cis with beta Knossos showed deletion of a single A in codon 59 leading to a premature termination at codon 60. This delta 0/beta Knossos allele has been observed in three unrelated Egyptian families and associated with a single beta haplotype (+----++). One individual who was homozygous for the delta 0/beta Knossos allele as well as heterozygous for a non-deletional alpha thalassaemia, was completely clinically asymptomatic, while others have coinherited the delta 0/beta Knossos allele with different beta and alpha thalassaemia determinants. A study of the different genetic interactions giving rise to a spectrum of clinical phenotypes is reported.