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Douma Z., Dallel M., Bahia W., Ben Salem A., Ben Ali F. H., Almawi W. Y., Lautier C., Haydar S., Grigorescu Florin, Mahjoub T. (2020). Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia. Gene, 741, p. art. 144560 [6p.]. ISSN 0378-1119.

Titre du document
Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia
Année de publication
2020
Type de document
Article référencé dans le Web of Science WOS:000526116400023
Auteurs
Douma Z., Dallel M., Bahia W., Ben Salem A., Ben Ali F. H., Almawi W. Y., Lautier C., Haydar S., Grigorescu Florin, Mahjoub T.
Source
Gene, 2020, 741, p. art. 144560 [6p.] ISSN 0378-1119
SNV (single nucleotide variation) in estrogen receptor (ESR1 and ESR2) genes are susceptibility markers for complex diseases, such as cancer, metabolic disorders and women infertility. We explored six widely used SNVs in ESR1 (rs2234693, rs9340799, rs3798577, rs3020314) and ESR2 (rs1256049, rs4986938) in polycystic ovary syndrome (PCOS) in women from Tunisia (n = 254) compared to controls (n= 170). Genotyping was performed by RFLP-PCR or real-time PCR and analyzed in GoldenHelix statistical package. Logistic regression revealed association of rs2234693, rs3798577 and rs3020314 (ESR1) and rs1256049 (ESR2), the association of rs2234693 (C/T) being the strongest with P < 4.81 x 10(-6), 2.88 x 10(-5) after Bonferroni correction, OR 0.31, 95%CI (0.18-0.53)). Correlations were found with LH, LH/FSH or hyperandrogenism and even more significant with metabolic syndrome (rs9340799) and hyperglycemia (rs3798577). Among 14 haplotypes reconstructed in ESR1gene, four haplotypes (H1 to H4) were associated with PCOS the strongest being that of H1 (P < 0.002) supported by Bonferroni (P < 0.033) and permutation tests (P < 4 x 10(-4)). In haplotype trend regression, concordant correlations were found with insulin resistance (P < 0.033) for H2 and with high blood pressure for H3 (P < 0.048). While these data revealed influential role on metabolic rather and hormonal features of PCOS, the association of rs2234693 was the strongest among all ethnic populations studied thus far giving a new insight on estrogen receptor gene variation in distant North African populations and their role in metabolic alteration of PCOS.
Plan de classement
Sciences fondamentales / Techniques d'analyse et de recherche [020] ; Santé : généralités [050]
Description Géographique
TUNISIE
Localisation
Fonds IRD [F B010078976]
Identifiant IRD
fdi:010078976
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