Reproductive and Developmental Medicine

: 2017  |  Volume : 1  |  Issue : 2  |  Page : 80--83

Association study between polycystic ovary syndrome and THADA gene polymorphisms in xinjiang uygur women

Xia Li1, Yu-Hong Huang2, Hai-Qing Tian1, Meng Zhang1, Xiao-Lin La1,  
1 Center of Reproductive Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China
2 Department of immunology, College of Preclinical Medicine, Xinjiang Medical University, Urumqi, Xinjiang 830054, China

Correspondence Address:
Xiao-Lin La
Center of Reproductive Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054


Background: The aim is to study the relationship between single nucleotide polymorphism (SNP) of polycystic ovary syndrome (PCOS) susceptibility locus in the THADA gene (rsl3429458) and PCOS in Xinjiang Uygur women. Methods: Seventy-seven Uygur patients with PCOS were enrolled from Reproductive Center of the First Affiliated Hospital of Xinjiang Medical University during May 2013 to January 2017; whereas 62 matched Uighur women of reproductive age with normal menstruation were set as the control group. Results: (1) The levels of body mass index, luteinizing hormone, testosterone (T), blood glucose after 2 h of oral glucose tolerance test, insulin, triglyceride (TG) and low-density lipoprotein in PCOS group were much higher than control group (P < 0.05). (2) The frequencies of TT, TG, and GG of SNP13429458 in PCOS were 63.5%, 26.2%, and 10.3%, respectively; compared to the frequencies in the control group being 48.5%, 39.3%, and 22.2%, respectively. The difference between these two groups was statistically significant (P < 0.05). The allele frequency of T was much higher in PCOS than control women (76.5% vs. 61.4%, P < 0.05). Conclusions: SNPl3429458 in the THADA gene is associated with the susceptibility of PCOS in Uygur women, which may be involved in the metabolic abnormality.

How to cite this article:
Li X, Huang YH, Tian HQ, Zhang M, La XL. Association study between polycystic ovary syndrome and THADA gene polymorphisms in xinjiang uygur women.Reprod Dev Med 2017;1:80-83

How to cite this URL:
Li X, Huang YH, Tian HQ, Zhang M, La XL. Association study between polycystic ovary syndrome and THADA gene polymorphisms in xinjiang uygur women. Reprod Dev Med [serial online] 2017 [cited 2020 Jul 16 ];1:80-83
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Full Text


The clinical manifestations of polycystic ovary syndrome (PCOS) include an ovulation, irregular menstruation, infertility, obesity, and abnormal metabolism. Although insulin resistance and hyperandrogenism are considered as important pathogenesis and characteristics of PCOS, the underlying etiology of the disease is still unknown.

In recent years, THADA gene has been found to be associated with PCOS and type II diabetes,[1],[2],[3] but whether this gene contributes to abnormal metabolism in PCOS is still unknown.[4] Since Xinjiang Uygur ethnic and dietary habits are different from Han population, previous studies have shown that Uygur PCOS patients had a higher incidence of glucose metabolism disorders and hirsutism when compared with Han nationality.[5] Genetic studies about the diversity of PCOS genetic causes in the two populations are still lacking. This study aimed to compare the differences of single nucleotide polymorphism (SNP) rsl3429458 in the THADA gene between Uygur PCOS patients and matched normal controls and further analyzed the association of SNP rsl3429458 with metabolic abnormalities in Uygur PCOS.


Participant enrollment

Seventy-seven Uygur patients with PCOS who were admitted to the First Affiliated Hospital of Xinjiang Medical University at the time from May 2013 to January 2017 were enrolled as case group with the age of 18–45 years old. Sixty-two matched Uighur women with normal menstruation and serum hormones of reproductive ages were set as control group. PCOS criteria using the 2003 Rotterdam meeting in the Netherlands standards included: (1) ovulation less or not ovulation; (2) clinical or biochemical manifestations of hyperandrogenism; (3) ovarian volume >10 mL, or the number of follicles with diameter of 2–9 mm ≥12. Patients with two or three above criteria were included, with the exception of congenital adrenal hyperplasia, Cushing syndrome, ovarian or adrenal tumors.

Specimen collection

All peripheral bloods were collected on the 3rd–5th day of menstruation. Height, body weight, and body mass index (BMI) were collected. Hormone and serum biochemical indexes were measured, including serum luteinizing hormone (LH), follicle stimulation hormone (FSH), testosterone (T), oral glucose tolerance test (OGTT), insulin level of fasting and taking glucose after 2 h, as well as total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol.

Blood genomic DNA extraction and polymerase chain reaction amplification

The blood genomic DNA was extracted from peripheral blood following the instructions of genomic DNA extraction kit (Tiangen, Shanghai, China). Qualified genomic DNA samples were operated according to the instructions. Primers designed according to Primer 5.0 software (Premier Biosoft International, PaloAlto, CA, USA), NlaIV was selected as the restriction endonuclease, and all the experimental steps were carried out strictly according to the kit instructions. THADA gene SNP13429458 locus primer sequence is as follows: F-5'-CAAGTCTTGGTCACAATCCAGGG-3', R-5'-CAATATATTCCAAATGAATGCACAATGGAGACT GCTGTGCAAAGTTAGAAGATGGAAC-3'.

Statistical analysis

SPSS version 17.0 statistical software (SPSS Inc., Chicago, IL, USA) was used for data analysis. Hardy–Weinberg genetic balance was used to check the genotype frequency distribution between the two groups. Data are presented as means ± standard error of mean. Statistical significance between groups within experiments was determined using an unpaired two-tailed Student's t-test, with a value of P < 0.05 considered to be statistically significant.


Hardy–Weinberg equilibrium analysis of SNP rsl3429458 in the THADA gene between Uygur PCOS group and control group

The observation and expectation of genotype frequency distribution in rsl3429458 of PCOS group and control group were in accordance with the Hardy–Weinberg equilibrium and the coincidence test was better (P > 0.05).

Comparison of basic clinical data between Uygur PCOS group and control group

The levels of BMI, LH, T, OGTT 2 h blood glucose, insulin, TG, and LDL of Uygur PCOS group were significantly higher than those of normal control group (P< 0.05) [Table 1].{Table 1}

Comparison of allele frequencies of rsl3429458 in the THATA gene between Uygur PCOS and control group

The genotype frequencies of TT, TG, and GG of rs13429458 were 63.5%, 26.2%, and 10.3%, respectively, in the Uygur PCOS group, whereas the frequencies of TT, TG, and GG in control group were 48.5%, 39.3%, and 22.2%, respectively. The allele frequencies of T and C were 76.5% and 23.5% in Uygur PCOS group; and 61.4% and 38.6% in the control group, respectively. Significant differences of both genotype frequencies and allele frequencies were observed between these two groups (P< 0.05) [Table 2].{Table 2}

Comparison of basic data and metabolic indexes of rs3429458 genotype in Uygur PCOS group

The levels of 2 h blood glucose in OGTT, insulin, TG, and LDL were much higher in patients carrying TT genotype than those with TG genotype and GG genotype (P< 0.05). Although OGTT 2 h insulin and LDL were higher in TG genotype than those of GG genotype, there was no statistical difference (P > 0.05) [Table 3].{Table 3}


PCOS is a common complex disorder that associates with psychological, reproductive, and metabolic features. In recent years, insulin resistance and hyperandrogenism-related genes have been explored. The THADA gene is widely expressed in human pancreas, thyroid, adrenal gland, and thymus, which was found to be associated with benign thyroid tumors initially.[6] Further studies have shown that SNPs in THADA gene were related with PCOS, insulin resistance, and type II diabetes. Xinjiang Uygur living in the vast northwest of China has small population flow range, rarely marry with other local people, and keep their own unique life, eating habits as the more closed groups. Previous studies have shown that there is obvious phenotype difference between Uygur patients with PCOS and Han patients.[5] Therefore, exploring the genetic diversity between these two populations will help us to better understand the pathogenesis of PCOS.

In this study, significant differences in genotype and allele frequency in SNP rsl3429458 were identified between cases and controls. In the Uygur PCOS group, the frequency of T allele was higher than that of controls. It is interesting to find that the levels of OGTT 2 h blood glucose, insulin, TG and LDL were higher in TT-carriers than those in TC and CC carriers (P< 0.05). It suggested that in Uygur PCOS, T allele at rs13429458 locus may associate with insulin resistance and lipid metabolism disorders. Thus, for those patients carrying high-risk allele should strengthen diet intervention and weight management to prevent long-term complications. Our conclusion is consistent with the results of the previous study in PCOS patients from Ningxia,[7] but the contrast to the data by Goodarzi et al.[8] in European PCOS population. A possible explanation may lay in the genetic background, different inclusion criteria, and limited sample size.

The present study confirmed that the THADA gene be involved in the metabolic disturb occurrence in Uygur PCOS population, and the risk alleles identified in Uygur PCOS may provide targets for further functional study and clinic consultation.

Financial support and sponsorship

This project was supported by the Natural Science Foundation of Xinjiang Uygur Autonomous Region (NO. 2013211A087)

Conflicts of interest

There are no conflicts of interest.


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