PvuII-ESR1 gene polymorphism in premenstrual dysphoric disorder in South Indian women

Premenstrual dysphoric disorder (PMDD) is a condition that affects nearly 3-9% of the women in the reproductive age during the luteal phase of each menstrual cycle characterized by symptoms varying in severity and affecting the quality of life. Earlier research studies conducted have reported independent relationships between PvuII-ESR1-polymorphism and psychological traits in PMDD and risk for cognitive, behavioral, and affective symptoms. However, as the studies are few in number and the results are not consistent, there is a need for our study to link between the PvuII-ESR1gene and PMDD.

All nonpregnant women aged between 18 and 45 years and attending the OBG or Medicine or Psychiatry OPD for a routine health checkup were recruited into the study. The cross-sectional study recruited 35 samples each in the control and PMDD groups using a validated screening PMDD Assessment Scale Questionnaire (PMDDASQ). Mann-Whitney's U test and Chi-square test were used to calculate P values for the continuous and categorical variables. Tetra-primer-amplification refractory mutation system-polymerase chain reaction was used to identify the PvuII-ESR1gene polymorphism after isolation of genomic DNA from the whole blood.

Data-Analysis Pak tool and Med-Calc software were used for data analysis. The PvuII-ESR1 genotype distribution was in Hardy-Weinberg equilibrium in both PMDD and controls. The PMDDASQ scoring showed a significance with P ≤ 0.05. Pearson's Chi-Squared test performed for genotypes and alleles did not show any significant association with the phenotype.

PvuII-ESR1 SNP (T/C rs2234693) does not show any association with phenotype between the control and PMDD. However, PMDDAS questionnaire can be used to differentiate the women who are controls from PMDD.