Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women

• Published in: BMC medical genetics 2020-01, Vol.21 (1), p.14-14, Article 14
• Main Authors: Zhu, Ya-Nan, Zhang, Yi-Ting, Liu, Qin, Shen, Shan-Mei, Zou, Xiang, Cao, Yun-Xia, Wang, Wen-Jun, Yi, Long, Gao, Qian, Yang, Wei-Dong, Wang, Yong
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Association analysis; China - epidemiology; Chromosomes; Death Domain Receptor Signaling Adaptor Proteins - genetics; Demographic aspects; DENND1A; Deoxyribonucleic acid; Digital map services; DNA; Female; Follicle-stimulating hormone; Gene frequency; Gene loci; Gene polymorphism; Genes; Genetic aspects; Genetic Association Studies; Genetic polymorphism; Genetic polymorphisms; Genetic Predisposition to Disease; Genomes; Genotype; Genotypes; Guanine Nucleotide Exchange Factors - genetics; Gynecology; Haplotypes; Haplotypes - genetics; Health aspects; Hormones; Humans; Infertility; Insulin resistance; Linkage disequilibrium; Luteinizing hormone; Menstruation; Pathogenesis; Polycystic ovary syndrome; Polycystic Ovary Syndrome - epidemiology; Polycystic Ovary Syndrome - genetics; Polycystic Ovary Syndrome - pathology; Polymorphism, Single Nucleotide - genetics; Population; Proteins; Restriction fragment length polymorphism; Risk Factors; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Studies; Women
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/s12881-019-0945-1

The DENND1A gene is one of the most important sites associated with polycystic ovary syndrome (PCOS). We attempted to analyze the correlation between five single nucleotide polymorphisms (SNPs) in the DENND1A gene and the development of PCOS. A total of 346 PCOS patients and 225 normal ovulatory women were involved in the case-control study. Clinical variables and hormones were recorded. According to the Hap Map database, five tagging SNPs (rs2479106, rs2768819, rs2670139, rs2536951 and rs2479102) in the DENND1A gene were identified. The TaqMan probe and the PCR-RFLP (restriction fragment length polymorphism) methods were used for revealing these genotypes. TaqMan Genotype Software was used to analyze the alleles of the five SNPs. Linkage disequilibrium and the gene frequency analysis demonstrated that the CCGGG haplotype might increase the risk of PCOS (P = 0.038, OR = 1.89, 95% CI = 1.027-3.481). Significant differences were found in genotypic and allelic distributions at the rs2536951 and rs2479102 loci between PCOS women and controls (P