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Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. In this study, we investigated the possible association of vitamin D levels and rs703842 in the CYP27B1 gene with MS. Methodology: We used blood samples of 99 patients (65 female, 35 male) with an magnetic resonance imaging (MRI)-confirmed definitive diagnosis of MS and 99 controls (70 female, 29 male) between the ages of 18-55 years. We measured their vitamin D levels, isolated their DNA, and scanned rs703842 polymorphism in the CYP27B1 gene. Results: Rs703842 polymorphism in the CYP27B1 gene in humans was found as three different genotypes: CC, CT, and TT. Among them, CC genotype was found higher in the patient group and CT genotype was found higher in the control group. The statistical analysis showed that the probability of a C allele having an association with MS to be 1.5189 times of the probability of T allele. Also, the vitamin D levels in the patient group were detected lower than the control group. Conclusion: Low levels of vitamin D and low expression of CYP27B1 were found to have an association with MS.

Obesity is a complex disorder with nearly epidemic proportions in many parts of the world. Genome-wide association studies have demonstrated high heritability for obesity and body mass, with associations of certain candidate genes and their variations with respect to race, geographical location/country of origin. However, the functional mechanisms and different ethnic data of these loci are still poorly understood. In this case-control study, we investigated two single nucleotide polymorphisms, rs2815752 in the neuronal growth regulator 1 (NEGR1) gene and rs6548238 in the transmembrane protein 18 (TMEM18) gene, for association in a group of obese residents of Afyonkarahisar province (Turkey). Polymorphisms were genotyped in 172 obese subjects and 77 healthy controls. The results showed no significant differences between the obese subjects and the controls in terms of the allele and genotype frequencies of the NEGR1 gene rs2815752 and the TMEM18 gene rs6548238 polymorphisms. There were no significant associations of the rs2815752 polymorphism in obese subjects and controls with regard to anthropometric measurements and body composition parameters. However, several significant associations were found for the rs6548238 polymorphism with regard to anthropometric measurements and body composition. Consequently, there were no significant differences between the genotype and allele frequencies of NEGR1 gene rs2815752 and TMEM18 gene rs6548238 polymorphisms in the obese group and the controls. There were significant associations for the rs6548238 polymorphism, but not the rs2815752 polymorphism, with the anthropometric measurements and body composition parameters in the group of obese subjects.

Vitiligo is a disease characterized by sharply limited white macular depigmentation as a result of melanocyte loss. Disease is divided into three types according to prevalence and localization as localized, general and universal. Etiology of vitiligo is unknown, but clearly shows a complex structure. Genetic predisposition, stress, many influencing factors such as systemic diseases and physical trauma causes vitiligo. In our study, MYG1 gene rs1465073 (-119C/ G) and CTLA4 gene rs231775 (49A/G) polymorphisms were evaluated in 106 patients diagnosed with vitiligo and 97 controls. Genotyping was performed using real time PCR method. There is no statistically significant differences between patients and controls in terms of allele frequencies of MYG1 gene rs1465073 and ve CTLA4 gene rs231775 polymorphisms. Beside, there is no statistically significant differences between patients and controls in terms of genotype frequencies of CTLA4 gene rs231775 polymorphism. On contrary to this there is statistically significant differences between patients and controls in terms of genotype frequencies of MYG1 gene rs1465073 polymorphism. In conclusion, consistent with the literature data, there is a significant association between MYG1 gene rs1465073 polymorphism and vitiligo. But there is no directly association between CTLA4 gene rs231775 polymorphism and vitiligo. Journal of Advances in Internal Medicine 2016;05(01):1-5

Cam, F. S., Gul, D., Tunca, Y., Fi´sti´k, T., Erdogan, M. O., Yi´ldi´z, H., Erdem, S. and Solak, M. 2008. Analysis ofthe dermatoglyphics in Turkish patients with Klinefelter’s syndrome. *Hereditas 145: 163 166. Lund, Sweden. eISSN1601-5223. Received December 21, 2007. Accepted May 5, 2008The word ‘‘dermatoglyphics’’ indicates study of epidermal ridge configuration on palms, soles and fingertips. Thisinvestigation was aimed to analyze dermatoglyphic patterns in Klinefelter’s syndrome (KS) patients. The study cohortconsisted of 57 cases and 25 controls. The prints were taken by using the ink method. Fingertip patterns, triradial counts, a-t-d angle and a-b ridge count were studied. There were significant differences in radial loops and whorls (pB0.05), and therewere very highly significant differences in arches (pB0.001) in KS patients as compared to controls. Dermatoglyphicpatterns at the hypothenar area (pB0.05), and areas between at the I. interdigital and thenar sites (pB0.001) have beenfound to be significantly different in KS patients compared to controls. Total ridge counts (TRC), a-b, a-t-d angels were notdifferent in the two groups (p 0.05). A definite correlation between the dermatoglyphic patterns and the KS has beenshown.Davut Gul, Department of Medical Genetics, Gulhane Military Medical Faculty, TR-06018 Etlik, Ankara, Turkey. E-mail:guld@gata.edu.tr

Apolipoprotein E ( ApoE) gene polymorphisms are thought to be the most important genetic risk factor in the pathogenesis of late onset and sporadic Alzheimer’s disease (AD). Moreover, interleukin-1α ( IL-1α) is found to be associated with the pathogenesis of AD. In this research, ∊2, ∊3, and ∊4 polymorphisms of ApoE gene and C889T polymorphism of IL-1α gene were genotyped in patients with AD and controls. Genotyping was performed by real-time polymerase chain reaction. ∊3/∊3 and ∊3/∊4 genotype frequencies were significantly higher in control and case groups, respectively. While ∊3 allele frequencies were significantly higher in the control group, ∊2 and ∊4 allele frequencies were significantly higher among the cases with AD. No difference was found between the groups according to C889T polymorphism of IL-1α. In conclusion, we demonstrated that there was a strong association between ApoE ∊4 allele and AD, while there was no relation with IL-1α C889T polymorphisms for this study.

WOS: 000295823500062, PubMed: 21948754, We investigated a possible association between aggrecan gene polymorphism and lumbar degenerative disc disease in Turkish patients. One hundred 20-30-year-old patients with or without low back pain were selected for the study. Lumbar magnetic resonance imaging was performed on all patients. The patient group had low back pain clinically and degenerative disc disease radiographically. The control group included patients with and without low back pain: all were negative radiographically for degenerative disc disease. Genomic DNA was extracted from all participants. A PCR assay were used to evaluate variable number of tandem repeat polymorphism of aggrecan gene alleles to determine if there was any correlation with degenerative disc disease. Significant associations were found between short repeated alleles of the aggrecan gene and severe disc degeneration. A significant association was also found between short repeated alleles of the aggrecan gene and multilevel disc herniation as well as extrusion and sequestration types of disc herniation. In Turkish population, short repeated alleles of the aggrecan gene are associated with increased disc degeneration and disc herniation., Kocatepe University Scientific Research CommitteeAfyon Kocatepe University [051.TIP.44], The authors thank Murat Acar and Bumin Degirmenci for help with visual assessment of magnetic resonance images. Research supported by the Kocatepe University Scientific Research Committee (Project #051.TIP.44).

WOS: 000280396600061, PubMed: 20589617, Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B-12 and methionine, whereas homocysteine levels are increased. We examined folate, vitamin B-12 and homocysteine serum concentrations and polymorphism of the C677T MTHFR gene in Turkish children with neural tube defects. Thirty-three children with NTDs, 26 mothers and 48 healthy individuals were studied. C677T MTHFR polymorphism was determined by melting curve analyses (LightCycler (R)). The levels of folate, vitamin B-12 and homocysteine serum concentrations in NTDs were evaluated and compared, along with information concerning alleles of the MTHFR gene. C677T allele frequencies in NTD children and their mothers were similar to those found in controls. Serum folate and vitamin B-12 concentrations were significantly higher in NTD children than that of controls. Serum homocysteine concentrations were not significantly higher in NTD children and mothers. We concluded that C677T MTHFR gene polymorphism does not affect folic acid, vitamin B-12 and homocysteine metabolism in Turkish children with NTDs. C677T polymorphism of the MTHFR gene cannot be regarded as a major risk factor for NTDs in Turkish children., Afyon Kocatepe University Scientific Research Projects CommissionAfyon Kocatepe University [051.TIP.40], Research supported by the Afyon Kocatepe University Scientific Research Projects Commission (#051.TIP.40).