Association of E-cadherin single nucleotide polymorphisms with the increased risk of endometriosis in Indian women

Suresh Govatati, Naveen Kumar Tangudu, Mamata Deenadayal, Baidyanath Chakravarty, Sisinthy Shivaji, S. Shivaji, Manjula Bhanoori
Molecular human reproduction · 2011 · vol. 18(5) , pp. 280–287 · doi:10.1093/molehr/gar079 · PMID:22184339 · W2139367411
article OA: bronze CC0 ⤵ 17 in-corpus citations
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This study found specific E-cadherin genotypes and haplotypes are associated with increased endometriosis risk in Indian women, and E-cadherin expression is altered in endometriosis patients.

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Abstract

The objective of the present study was to investigate the association between gene E-cadherin single nucleotide polymorphisms (SNPs) and risk of developing endometriosis in Indian women and to evaluate the role of E-cadherin expression in the pathophysiology of endometriosis. A genetic association study was conducted in 715 endometriosis cases and 500 controls of Indian origin. We genotyped -160 C/A, +54 C/T and -347 G/GA SNPs of gene E-cadherin by PCR-sequencing and PCR-restriction fragment length polymorphism techniques. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D') for pair-wise linkage disequilibrium (LD) were assessed by Haploview Software. In addition, to better understand genetic contributions to the pathophysiology of endometriosis, the expression pattern of E-cadherin in the endometrium of women with and without endometriosis was analyzed by western blot and immunohistochemical analysis. The frequencies of -347GA/GA (P = 0.026) and -160A/A (P = 0.0019) genotypes and -347G/-160A/+54C (P = 0.007) and -347GA/-160A/+54C (P < 0.0001) haplotypes were significantly different between patients and controls. Strong LD was observed between -347G/GA and -160C/A loci (D' = 0.64) when compared with -347G/GA and +54C/T (D' = 0.585) or -160C/A and +54C/T (D' = 0.05) loci in cases. Furthermore, increased membranous E-cadherin expression was observed in cases than in controls. The expression seems to be genotype dependent. In conclusion, the E-cadherin -347GA/GA and -160A/A genotypes and -347GA/-160A/+54C and -347G/-160A/+54C haplotypes may jointly modify the risk of endometriosis in Indian women. In addition, the differential expression of E-cadherin may play an important role in pathogenesis of endometriosis.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Cadherins Endometriosis Polymorphism, Single Nucleotide Antigens, CD Blotting, Western Cadherins Endometriosis Female Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Immunohistochemistry India Risk Factors

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