On one end of the spectrum we can find genetic factors leading to an orofacial cleft without any significant environmental involvement. In other cases, genetic factors may provide a background that makes an individual susceptible Nutlin 3a to the development of the anomaly. For other patients, environmental factors may play a large role in the etiology of orofacial cleft 8., 9., 10. and 11.. Because past research indicates that most cases of spina bifida are preventable,

identifying the contribution by which modifiable risk factors in the environment influence the risk of other structural malformations is important [11, 14]. There is an agreement in the literature regarding the need for identification of the specific factors which predispose an individual to abnormal palatogenesis as an important step leading to a reduction of the disability [9, 11, 15]. The relationship between maternal dietary intake and embryonic/fetal nutrition is not fully understood. Nutrient supply to the embryo can be influenced by a number

of adaptive physiological changes that occur during pregnancy, including alternations in maternal intestinal absorption, and transfer mechanisms. Environmental exposures act through their impact Buparlisib price on the mother and embryo and they can be studied using markers of exposure but also of susceptibility [4]. Variations in single nucleotide polymorphisms (SNPs) can have functional consequences ranging from severe to none. Variants Demeclocycline can either increase or decrease case risk. In most individuals, these variants do not adversely affect the phenotypic appearance of their carrier.

In others, however, a single gene variant or a combination of SNPs may lead to effects that exceed our normal structural variations. The risk of CL/P is expected to be heavily influenced by the patterns of SNPs 7., 8. and 9.. Among various common types of alternation in DNA sequence such as insertions (e.g. cystathionine-beta synthase CBS 844ins68), deletions, and large-scale copy-number variations, SNPs are the most usually studied. The technology for detecting many SNPs in large populations has become feasible and affordable [4, 12]. However to date, there are no published reviews of studies devoted to genetic polymorphic variants as well as nutritional risk factors contributing to the etiology of orofacial clefts in the Polish population. Unfortunately, extrapolating data according to risk factors for CL/P from different populations is not always straightforward. Differences in risk estimates for candidate genes and environmental risk factors can be caused by etiologic heterogeneity between populations, differences in ethnic background and lifestyle 15., 16. and 17.. Variation of CL/P expression in ethnic groups indicates genetic differences in susceptibility.