**5.2 p53 mutations**

Genomic alterations may represent important events in the development of endometriosis. Tumour suppressor genes play a role in the regulation of cell growth and prevention of carcinogenesis. The altered tumour suppressor genes might be related with the development of endometriosis. p53, a representative tumour suppressor, is involved in cell proliferation and progression of various tumour types (Akahane et al., 2007).

Current Insights and Future Advances in Endometriosis Diagnostics 431

precursor androgens that are subsequently converted to estrogens. In fact, C allele is associated with high levels of estradiol in young women. CYP19 gene lies on chromosome 15 and encodes cytochrome P450, a major component of aromatase. Aromatase is a key enzyme in the conversion of androgens to estrogens, and mediates the rate-limiting step in the metabolism of C19 androgens to estrogens. Different polymorphisms of CYP19 are present in the gene and have been related to variations of aromatase activity (Gennari et al., 2004). A silent SNP, C1558T, corresponding to the 3' untraslated region of the mRNA, has been correlated to the level of aromatase mRNA in breast tumour cells. Another polymorphism, GA at Val80, has been previously associated with breast cancer risk. Few studies have been published on the association between CYP17 T>C polymorphism with risk of endometriosis, showing controversial data. Some studies connected C1558T polymorphism with endometriosis risk (Huber et al., 2005), while no report relates Val80

The **CYP19 genotype** may play a role in increased risk of endometriosis lying on an environmental and genetic background. The polymorphisms of CYP19 are significantly represented in Val80 and C1558T in patients affected with endometriosis. Despite endometriosis is a multifactorial disease, identifying Val80 and C1558T polymorphisms of CYP19 could help to comprehend the mechanisms of endometriosis. The assessment of these polymorphisms could help to anticipate the diagnosis or expect it in asymptomatic women to elaborate a follow up program. Other than that, a follow up by ultrasound and blood markers could be proposed in these patients, in order to define unclear symptoms

Endometriosis is associated with genetic and immunological influences and exposure to environmental factors. It seems to result from a complex sequence of events in which multiple gene loci interact with each other and the environment to produce the disease phenotype, but thus far little is known about the candidate genes involved (Balow & Kennedy 2005). Because of this complexity, endometriosis is ideally suited as a target for genome wide scanning. Mutations and single-nucleotide polymorphisms (SNPs) have been identified in a number of genes that might confer susceptibility to endometriosis, but their

**Proteome analysis** is now widely accepted as a complementary technology to genetic profiling and together enables a better understanding of diseases and the development of new treatments. Proteomics allows the simultaneous observation of alterations in protein expression that may be either a precursor to or causative in disease development or a consequence of the disease. These techniques check and identify proteins that are expressed differently in patients with endometriosis versus normal controls. More recently, protein arrays using antibodies enable the screening of thousands of proteins against one sample. In future, such arrays could measure the expressions of multiple proteins to reveal changes in their regulation and expression in disease states. Furthermore, by using protein chip arrays, differential analysis of protein expression in women with and without differential protein profiling technology can be developed into a

SNP to endometriosis.

**6. Future scope** 

such as dysmenorrhoea and chronic pelvic pain.

precise role remains to be determined.

powerful tool for endometriosis research.

High frequency of p53 locus deletion was observed in the endometriosis specimens (Bischoff et al., 2002). The p53 protein abnormalities and chromosomal aberrations may be involved in malignant transformation of ovarian endometriosis (Mhawech et al., 2002). In contrast, some investigators have demonstrated the undetectable expression of p53 in the endometriosis specimens.

Although the real role of p53 polymorphism has not been clarified, it deserves more attentions in the study of endometriosis and the development of gene therapy. However, the real roles of these p53 gene polymorphisms upon endometriosis remain to be clarified. Lager cohort recruitment is request for its further clarification. After the elucidation of these issues, some tumour suppressor gene polymorphisms might become useful markers to predict the future development of endometriosis as well as the development and intervention of genetic therapy.
