Verification of a ZBTB16 variant in polycystic ovary syndrome patients

Abstract

Research question: This study investigated whether rs1784692 is a risk factor for polycystic ovary syndrome (PCOS) in Han Chinese women.

Design: A case-control study was conducted in Han Chinese women, involving 526 PCOS patients and 522 control participants. A TaqMan MGB probe assay was used to genotype the variant rs1784692. Dominant and additive models were employed for genotype-phenotype association analysis in the PCOS and control samples.

Results: The minor allele C of rs1784692 is protective against PCOS (odds ratio [OR] 0.556, 95% confidence interval [CI] 0.408-0.759, P = 1.83 × 10^-4), even after adjustment for body mass index (BMI) and age (OR_adj 0.539, 95% CI 0.391-0.743, P_adj= 1.62 × 10^-4). Genotype-phenotype analysis of the dominant model showed that mean BMI in the CC+CT group was higher than in the TT group in the PCOS group (27.12 ± 5.82 versus 24.57 ± 4.52, P = 1.0 × 10^-3), but not in the control groups, indicating that the minor allele C of rs1784692 associates with BMI in women with PCOS. The mean LH (luteinizing hormone) concentration in the CC+CT group was lower than in the TT group in PCOS and control participants (9.33 ± 5.08 versus 10.93 ± 5.91, P = 0.036; 4.39 ± 1.66 versus 4.89 ± 2.07, P = 0.021). Genotype-phenotype analysis of additive model showed that mean BMI in TC group was higher than in the TT group in PCOS patients compared with control participants (27.14 ± 5.81 versus 24.57 ± 4.52, P = 3.06 × 10^-3).

Conclusions: The SNP rs1784692 in gene ZBTB16 is protective against PCOS but is associated with increased BMI in Han Chinese women with PCOS.

Keywords: Polycystic ovary syndrome; Single nucleotide polymorphism; ZBTB16.