The Association Between ZBTB16 Gene And PCOS In Chinese Han Women

Background:A recent Meta-analysis of genome-wide association study(GWAS)had identified that rs1784692 in gene ZBTB16 associated with polycystic ovary syndrome(PCOS)in European population.We conducted this research to investigate whether rs1784692 is a risk factor on PCOS in Han Chinese women.Methods:A case-control study was conducted including 526 PCOS patients and 522 control subjects of Han Chinese women.TaqMan-MGB probe assay was used for variant rs1784692's genotyping.The association between ZBTB16 gene and PCOS was investigated by calculating the minor allele frequency(MAF)and the genotype frequencies of rsl 784692 in case group and control group.A dominant model was employed for genotype-phenotype correlation analysis in PCOS and control samples.Results:Minor allele C of rs1784692 was associated with PCOS(OR=0.556,95%CI 0.408-0.759,P=1.83 × 10-4),even after body mass index(BMI)and age adjustment(ORadj=0.539,95%CI 0.391-0.743,Padj=1.62×10-4).Phenotype related analyses showed that the mean level of BMI in CC+CT group was higher than TT group in PCOS cases,but not in control groups,indicating that minor allele C of rs 1784692 associated with BMI level in PCOS cases.Meanwhile,the mean level of luteinizing hormone(LH)in CC+CT group was lower as compared to the TT group both in PCOS and control subjects(9.33 ± 5.08 vs.10.93 ±5.91,P=0.036;4.39±1.66 vs.4.89 ± 2.07,P=0.021).Genotype-phenotype analysis of additive model showed that the mean level of BMI in TC group was higher than the TT group in PCOS patients when compared with the control subjects(27.14±5.81 vs.24.57±4.52,P=3.06×10-3).Conclusions:Rs1784692 in gene ZBTB16 is associated with PCOS and BMI level in Han Chinese women.