Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Haemophilus influenzae type b colonization in children in a hospital-based day care center

We sought to assess the effect of day care center (DCC) attendance and parental health care work environment on the prevalence of Haemophilus influenzae type b (Hib) pharyngeal colonization in children in Turkey. Children of health care workers were evaluated by nasopharyngeal culture specimens obtained prior to enrollment at a hospital-based DCC at Cerrahpasa Medical Faculty (CMF-DCC) and then again after 3 months of attendance. A larger cohort from this same DCC was evaluated after 6 months of attendance and compared to a group of children of non-health care workers enrolled in Bahcelievler-DCC. As is standard of care in Turkey, none of these children had received the Hib vaccine. Fifty children of health care workers were evaluated prior to their enrollment and then again after 3 months at CMF-DCC. The incidence of Hib carrier state at enrollment was 4% and increased to 22% after 3 months at the DCC. To assess the affect of parental health care employment on Hib carriage rates, 103 children from CMF-DCC and 40 children of non-medical families at Bahcelievler-DCC were evaluated. Hib carrier state was identified in 40.7 and 47.5% after more than 6 months of attendance at CMF-DCC and Bahcelievler-DCC, respectively. No significant difference was observed between carriage rates of children coming from medical and non-medical families and the average carriage rate was 42.6% when duration of day-care attendance exceeded 6 months. Our results demonstrate that Hib carriage rates are affected by the duration of DCC attendance. Parents' employment in a health care facility does not affect carriage rates

Impaired Th17 differentiation is a common attribute of genetically distinct forms of the hyper IgE syndrome in a cohort of Turkish children

28th Congress of the European-Academy-of-Allergy-and-Clinical-Immunology -- JUN 06-10, 2009 -- Warsaw, POLAND[Abstract not Available]European Acad Allergy & Clin Immuno

Impaired Th17 differentiation is a common attribute of genetically distinct forms of the hyper IgE syndrome in a cohort of Turkish children

28th Congress of the European-Academy-of-Allergy-and-Clinical-Immunology -- JUN 06-10, 2009 -- Warsaw, POLANDWOS: 000266171500956…European Acad Allergy & Clin Immuno

Clinical and genetic heterogeneity of hyper IgE syndrome in a Turkish cohort

13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting -- OCT 16-19, 2008 -- Hertogenbosch, NETHERLANDSWOS: 000262727500122…European Soc Immunodeficiencies, Int Patient Org Primary Immunodeficiencies, Int Nursing Grp Immunodeficiencie