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DISCUSSION AND CONCLUSION

5th Eurasia Congress of Infectious Diseases- Tirana 2013, May 15-18. P-134 Frequency and Association of some Phenotypes in Patients with H1N1 in Kosova Shemsedin Dreshaj 1 , Avdulla Alija 2 , Teuta Doda 1 , Njomeza Geca 1 , Ismet Bajraktari 2 , Nikolaus Bresgen 3 and Peter M Eckl 3 .

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DISCUSSION AND CONCLUSION

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  1. 5th Eurasia Congress of Infectious Diseases- Tirana 2013, May 15-18. P-134 Frequency and Association of some Phenotypes in Patients with H1N1 in Kosova Shemsedin Dreshaj1, Avdulla Alija2, Teuta Doda1, Njomeza Geca1, Ismet Bajraktari2, Nikolaus Bresgen3 and Peter M Eckl3. 1 University of Prishtina, University Clinical Centre, Clinic for Infectious Diseases, Nena Tereze, n.n., 10000, Prishtina, Kosova 2 University of Prishtina, Department of Biology, Nena Tereze, n.n., Prishtina, Kosova 3 University of Salzburg, Department of Cell Biology, Hellbrunnerstr. 34, A-5020 Salzburg, Austria METHODOLOGY This investigation was carried out on the frequency of specific phenotypes as well as their eventual association in patients with H1N1. Data were obtained in the Clinics for Infectious Diseases – University Clinical Centre Prishtina, from the examination of 77 patients infected with H1N1 in the period 2011-2012 and compared with 101 control individuals. The selected alternative phenotypes analysed were: ear lobe free / ear lobe attached, normal chin /cleft chin, tongue roller/non roller, hand clasping right thumb over/ hand clasping left thumb over, righthanded /lefthanded, dark eyes/blue eyes. The blood group from ABO and Rh system as phenotypical markers were observed too. Table 1. Individuals from all regions of Kosovo's were examined for the following morpho- and physiological alternative phenotypes (Table 1): ear lobe free - vs. ear lobe attached, (OMIM number 128900); normal chin vs. cleft chin (OMIM number 119000); tongue roller vs non-roller (inability of tongue rolling) (OMIM number 189300); right-handed vs. left-handed (OMIM number 139900, gene location 2p12-q22); hand clasping – right thumb over vs. hand clasping- left thumb over (OMIM number 139800); blood groups: ABO system (OMIM number 110300, gene location 9q34); Rhesus factor (OMIM number 111680, gene location 1p36.2-p34). • RESULTS • The results obtained show that the percentage of the individuals with attached ear lobe is significantly higher in patients (P≤0.01) compare to the control individuals. In addition, individuals with blue eyes are significantly more frequent (P≤0.05) among patients compare to control group whereas a tongue non-rollers are more represented in patients group (P<0.1). Although there was a difference in the percentage also in other characteristics, this was not statistically significant. There was no significant difference on the frequency of blood groups from the ABO and Rh system observed. The average age of the patients was 30.57 years. • The average age of the patients = 30.57 years • From 78 patients, 28 developed complications. Among 28 patients which developed complications, left-handed develop complications (mainly bronchopneumonia) more often than right-handed (p<0.005). Table 2. The frequency of analysed phenotypes Table 3. The frequency (%) of the blood groups from ABO and Rh system DISCUSSION AND CONCLUSION The genetic structure of human populations is of a special interest in genetic risk assessment, prediction and predisposition of different diseases. In this context, there are reports showing various degrees of susceptibility to infectious diseases. Our data support the evidence that genetic variation contributes the variation of the susceptibility and severity of the H1N1. The recessive phenotypes are shown to be more frequent in H1N1 patients compare to control individuals indicating to eventually increased levels of homozygosity in some gene loci. Together with the fact that among 28 patients which developed complications, left-handed develop complications (mainly bronchopneumonia) significantly more often than right-handed (p<0.005), these preliminary data could serve as a good basis for further in depth investigations for better understanding of predispositions and susceptibility to H1N1. • References • Anstee, D.J. (2010) The relationship between blood groups and disease. Blood, 115 (23) 4635-4643. • Bishop, D. V. M. (2001) Individual differences in handedness and specific speech and language impairment: evidence against a genetic link. Behavioural Genetics. 31: 339-351. • Hadziselimovic, R. and Lelo, S. (1998) Bioantropoloskipraktikum. PMF, Sarajevo. • Keynan, Y., Malik, S., and Fowke, K.R. (2013) The Role of Polymorphisms in Host Immune Genes in Determining the Severity of Respiratory Illness Caused by Pandemic H1N1 Influenza. Public Health Genomics 16:9–16 • OMIM (2011) Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore. • Saha, N. and Banerjee, N. (1968) Incidence of ABO and RH Blood Groups in pulmonary Tuberculosis in different ethnic group. Journal of Medical Genetics, 5 (4) 306. • Sandford, A.J. Weir, T.D. and Paré, P.D . (1997) Genetic risk factors for chronic obstructive pulmonary disease. European Respiratory Journal, 10:1380-1391. • Trikalinos, A.Th., Evangelia, E.E., Contopoulos-Ioannidis G.D., and Ioannidis, J.P.A. (2004) Establishment of genetic associations for complex diseases is independent of early study findings. European Journal of Human Genetics.12, 762–769. • Vogel,F. and Matulsky, A. G. (1997) Human Genetics. Springer-Verlag. Berlin, Heidelberg, New York. • Wagener, D.K., and Cavalli-Sforza, L.L. (1975) Ethnic Variation in Genetic Disease: Possible Roles of Hitchhiking and Epistasis. American Journal of Human Genetics, 27:348-364.

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