@article{fdi:010078976,
  title = {{A}ssociation of estrogen receptor gene variants ({ESR}1 and {ESR}2) with polycystic ovary syndrome in {T}unisia},
  author = {{D}ouma, {Z}. and {D}allel, {M}. and {B}ahia, {W}. and {B}en {S}alem, {A}. and {B}en {A}li, {F}. {H}. and {A}lmawi, {W}. {Y}. and {L}autier, {C}. and {H}aydar, {S}. and {G}rigorescu, {F}lorin and {M}ahjoub, {T}.},
  editor = {},
  language = {{ENG}},
  abstract = {{SNV} (single nucleotide variation) in estrogen receptor ({ESR}1 and {ESR}2) genes are susceptibility markers for complex diseases, such as cancer, metabolic disorders and women infertility. {W}e explored six widely used {SNV}s in {ESR}1 (rs2234693, rs9340799, rs3798577, rs3020314) and {ESR}2 (rs1256049, rs4986938) in polycystic ovary syndrome ({PCOS}) in women from {T}unisia (n = 254) compared to controls (n= 170). {G}enotyping was performed by {RFLP}-{PCR} or real-time {PCR} and analyzed in {G}olden{H}elix statistical package. {L}ogistic regression revealed association of rs2234693, rs3798577 and rs3020314 ({ESR}1) and rs1256049 ({ESR}2), the association of rs2234693 ({C}/{T}) being the strongest with {P} < 4.81 x 10(-6), 2.88 x 10(-5) after {B}onferroni correction, {OR} 0.31, 95%{CI} (0.18-0.53)). {C}orrelations were found with {LH}, {LH}/{FSH} or hyperandrogenism and even more significant with metabolic syndrome (rs9340799) and hyperglycemia (rs3798577). {A}mong 14 haplotypes reconstructed in {ESR}1gene, four haplotypes ({H}1 to {H}4) were associated with {PCOS} the strongest being that of {H}1 ({P} < 0.002) supported by {B}onferroni ({P} < 0.033) and permutation tests ({P} < 4 x 10(-4)). {I}n haplotype trend regression, concordant correlations were found with insulin resistance ({P} < 0.033) for {H}2 and with high blood pressure for {H}3 ({P} < 0.048). {W}hile 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 {N}orth {A}frican populations and their role in metabolic alteration of {PCOS}.},
  keywords = {{E}strogen receptors ; {ESR}1 ; {ESR}2 ; {S}ingle nucleotide variation ; {P}olycystic ovary syndrome ; {M}etabolic syndrome ; {H}aplotype ; {TUNISIE}},
  booktitle = {},
  journal = {{G}ene},
  volume = {741},
  numero = {},
  pages = {art. 144560 [6p.]},
  ISSN = {0378-1119},
  year = {2020},
  DOI = {10.1016/j.gene.2020.144560},
  URL = {https://www.documentation.ird.fr/hor/fdi:010078976},
}