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ABSTRACT. Coronary artery disease (CAD) is a multifactorial disease influenced by genetic and environmental factors. Major risk factors of CAD are hypertension, hyperlipidemia, smoking, family history and obesity. Also polymorphisms in the angiotensin-I converting enzyme (ACE) gene can associate with CAD. The relationship between ACE polymorphisms and other risk factors is not well understood in CAD, likely due to the complex interrelation of genetic and environmental risk factors. The aim of this study was to investigate the associations of CAD risk factors and ACE polymorphisms in patients with CAD. We enrolled 203 consecutive patients and 140 healthy subjects in the study. The severity of CAD was evaluated according to the number of vessels with significant stenosis. ACE insertion (I)/deletion (D) genotype was determined by PCR. The frequency of the DD genotype was significantly higher in patients. D allele frequency was higher among CAD subjects when compared to the control group. The number of stenotic vessels were found to be statistically associated with a high frequency of DD polymorphism and D allele and a low frequency of I allele in patients, especially in male patients. The control group displayed II and ID genotypes more frequently than did the patients. The ACE I/D genotype was associated with hyperlipidemia and smoking history. We consider that the DD polymorphism and D allele may affect the severity of CAD, while I allele may have a protective effect. In conclusion, the ACE I/D genotype may interact with conventional risk criteria in determining the risk of CAD.

ABSTRACT. Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA) rearrangements. To investigate the etiology of decreased sperm fertility and motility of sperm and to develop an appropriate therapeutic strategy, the molecular basis of these defects must be elucidated. In this study, we aimed to reveal the relationships between the genetic factors including sperm mtDNA mutations, Y chromosome microdeletions, and sperm parameters that can be regarded as candidate factors for male infertility. Thirty men with a history of infertility and 30 fertile men were recruited to the study. Y chromosome microdeletions were analyzed by multiplex PCR. Mitochondrial genes ATPase6, Cytb, and ND1, were amplified by PCR and then analyzed by direct sequencing. No Y chromosome microdeletions were detected in either group. However, a total of 38 different nucleotide substitutions were identified in the examined mitochondrial genes in both groups, all of which are statistically non-significant. Fifteen substitutions caused an amino acid change and 12 were considered novel mutations. As a conclusion, mtDNA mutations and Y chromosome microdeletions in male infertility should be examined in larger numbers in order to clarify the effect of genetic factors.

Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE. For ACE genotype, 16%, 44%, and 40% of the players had insertion/insertion (II), insertion/deletion (ID), and deletion/deletion (DD) genotypes, respectively, whereas 20% had XX, 36% had RX, and 44% had RR genotypes for ACTN3. When we examined the allelic percentages, for ACE, D allele was recorded as 62 and I as 38, and for ACTN3, R allele was 62 and X was 38. Our results were in agreement with the previous reports, indicating the presence of ACTN3 D and ACE X allele in soccer players. We suggest that ACE and ACTN3 genotypes are important biomarkers for genetic counseling for the individuals who are prone to be successful soccer players.

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These data indicate that gene-gene and gene-environmental risk interactions form significant models in predicting early onset CAD.

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Obeziteyle ilişkili beslenme alışkanlıklarının araştırılmasında yeni bir yöntem "Üç faktörlü beslenme anketi" Amaç: Literatürde TFEQ "Three-factor eating questionnaire" olarak bilinen anket, bireylerin beslenme alışkanlıklarını ölçmektedir. Bu çalışmada, grubumuz tarafından «Üç Faktörlü Beslenme Anketi» adıyla Türkçeye çevrilmiş olan anketin geçerlik ve güvenirliğinin kanıtlanarak ülkemizde kullanımının sağlaması amaçlanmaktadır. Yöntemler: Vücut kitle indeksi 30'un üzerinde olan 50 obez hasta, vücut kitle indeksi 25-30 arasında olan 50 fazla kilolu kişi ve 18'den büyük 25'ten küçük olan 50 sağlıklı birey çalışmaya dahil edilmiştir. Tüm bireylerin yaş, cinsiyet, bel çevresi, kilo, boy ve vücut kitle indeksi değerleri kaydedilmiş ve bireylere anket uygulaması gerçekleştirilmiştir. Bulgular: İstatistiksel analizler sonucunda anketin güvenirliğinin yüksek olduğu tespit edilmiştir. Ek olarak, anketin kişilerin bilinçli olarak yemek yemelerini kısıtlama derecesini, kontrolsüz olarak yemek yeme seviyesini ve duygusal oldukları anlardaki yemek yeme derecesini ölçmenin yanında, açlığa duyarlılık seviyesini de ölçtüğü tespit edilmiştir. Sonuç: Anketin Türkçe versiyonu, beslenme alışkanlıklarının incelenmesi amacıyla ülkemizde diğer araştırmacılar tarafından kullanılabilir. Anahtar sözcükler: Üç Faktörlü Beslenme Anketi, obezite, beslenme alışkanlıkları ABS TRACTA new method in investigation of obesity-related eating behaviors 'three-factor eating questionnaire' Objective: TFEQ "Three-factor eating questionnaire » evaluates eating behaviours of individuals. In this study, it was aimed to provide the usage of this questionnaire, which was translated into Turkish and named as «Üç Faktörlü Beslenme Anketi» by verifying the validity and reliability. Methods: Fifty obese patients with a body mass index greater than 30, 50 overweight individuals with a body mass index between 25 and 30, and 50 healthy individuals with a body mass index smaller than 25 were recruited to the study. Age, gender, waist circumference, weight, height and body mass index values were recorded and the questionnaire was filled up by all individuals. Results: Reliability of the questionnaire was found to be high. In addition, it was detected that, besides the evaluation of cognitive restraint of eating, disinhibition of eating control and emotional eating, the questionnaire also evaluates susceptibility to hunger. Conclusion: Turkish version of the questionnaire could be used for the investigation of eating behaviours by other researchers in our country.