Polymorphisms of <Emphasis Type="Italic">ICAM-1</Emphasis> and <Emphasis Type="Italic">IL-6</Emphasis> genes related to endometriosis in a sample of Brazilian women

Purpose

This study investigated the possibility of K469E (rs5498) and G241R (rs1799969) polymorphisms, in ICAM-1 gene, and G634C (rs1800796), in IL-6 gene, being associated with the occurrence of endometriosis in a sample of Brazilian women.

Methods

We genotyped 200 women (100 in control group and 100 in endometriosis group) by PCR-RFLP technique for G634C, K469E, and G241R polymorphisms.

Results

No significant difference was observed in genotypic frequency between control and endometriosis groups for G634C and K469E polymorphisms (p?=?0.61 and p?=?0.22, respectively). In addition, no significant difference between stages I-II and III-IV of the disease was found for both SNPs (p?=?0.63 and p?=?0.24, respectively). All individuals were wild homozygotes for G241R polymorphism.

Conclusion

This study suggests that polymorphisms K469E, G241R, and G634C are not associated with increased susceptibility to endometriosis in Brazilian women.

     

The poly(A)-binding protein genes, <Emphasis Type="Italic">EPAB</Emphasis>, <Emphasis Type="Italic">PABPC1</Emphasis>, and <Emphasis Type="Italic">PABPC3</Emphasis> are differentially expressed in infertile men with non-obstructive azoospermia

Purpose

Azoospermia is one of the major causes of male infertility and is basically classified into obstructive (OA) and non-obstructive azoospermia (NOA). The molecular background of NOA still largely remains elusive. It has been shown that the poly(A)-binding proteins (PABPs) essentially play critical roles in stabilization and translational control of the mRNAs during spermatogenesis.

Methods

In the present study, we aim to evaluate expression levels of the PABP genes, EPAB, PABPC1, and PABPC3, in the testicular biopsy samples and in the isolated spermatocyte (SC) and round spermatid (RS) fractions obtained from men with various types of NOA including hypospermatogenesis (hyposperm), RS arrest, SC arrest, and Sertoli cell-only syndrome (SCO).

Results

In the testicular biopsy samples, both PABPC1 and PABPC3 mRNA expressions were gradually decreased from hyposperm to SCO groups (P?<?0.05), whereas there was no remarkable difference for the EPAB expression among groups. The expression levels of cytoplasmically localized PABPC1 and PABPC3 proteins dramatically reduced from hyposperm to SCO groups (P?<?0.05). In the isolated SC and RS fractions, the EPAB, PABPC1, and PABPC3 mRNA expressions were gradually decreased from hyposperm to SC arrest groups (P?<?0.05). Similarly, both PABPC1 and PABPC3 proteins were expressed at higher levels in the SC and RS fractions from hyposperm group when compared to the SC and RS fractions from either RS arrest or SC arrest group (P?<?0.05).

Conclusion

Our findings suggest that observed significant alterations in the PABPs expression may have an implication for development of different NOA forms.

     

Two single nucleotide polymorphisms in <Emphasis Type="Italic">PRDM9</Emphasis> (<Emphasis Type="Italic">MEISETZ</Emphasis>) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

Purpose

To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.

Methods

Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.

Results

One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.

Conclusion

We found a possible association between PRDM9 and azoospermia by meiotic arrest.

     

<Emphasis Type="Italic">FTO</Emphasis>, <Emphasis Type="Italic">GCKR</Emphasis>, <Emphasis Type="Italic">CDKAL1</Emphasis> and <Emphasis Type="Italic">CDKN2A/B</Emphasis> gene polymorphisms and the risk of gestational diabetes mellitus: a meta-analysis

Purpose

Studies had examined the associations between genetic polymorphisms and the risk of gestational diabetes mellitus (GDM). However, conclusions of these studies were controversial due to the smaller sample size and limited statistical power. We carried out a meta-analysis with the aim of providing a more comprehensive summary of the currently available research to evaluate the relationship between FTO, GCKR, CDKAL1 and CDKN2A/B gene polymorphisms and GDM risk.

Methods

Literature search was carried out in the PubMed, EMBASE, Web of Science, China National Knowledge Infrastructure and Wangfang databases up to November 2017. Data were extracted by two independent reviewers and statistical analyses were performed with STATA software. Pooled odds ratios and 95% confidence intervals were calculated by Z test to assess the association between genetic polymorphisms and GDM risk. Stratified analysis was performed based on ethnicity. Heterogeneity and publication bias between studies were evaluated by Cochran’s Q test and Egger regression test, respectively.

Results

14 eligible studies were included. CDKAL1 rs7754840 and rs7756992 showed significant correlation with GDM risk under the allele, recessive, dominant, homozygote and heterozygote models. GCKR rs780094 and CDKN2A/B rs10811661 also showed the same association under the allele, recessive and heterozygote models. No associations between FTO rs9939609 and rs8050136, GCKR rs1260326 and GDM risk were found.

Conclusions

Our meta-analysis showed that two SNPs in particular(rs7754840 and rs7756992 in CDKAL1) were very strongly associated with GDM risk. GCKR rs780094 and CDKN2A/B rs10811661 polymorphisms were moderately associated with GDM risk.

     

Association of <Emphasis Type="Italic">TUSC1</Emphasis> and <Emphasis Type="Italic">DPF3</Emphasis> gene polymorphisms with male infertility

Purpose

Recently, genome-wide association studies of a Hutterite population in the USA revealed that five single nucleotide polymorphisms (SNPs) with a significant association with sperm quality and/or function in ethnically diverse men from Chicago were significantly correlated with family size. Of these, three SNPs (rs7867029, rs7174015, and rs12870438) were found to be significantly associated with the risk of azoospermia and/or oligozoospermia in a Japanese population. In this study, we investigated whether the rs10966811 (located in an intergenic region between the TUSC1 and IZUMO3 genes) and rs10129954 (located in the DPF3 gene) SNPs, previously related to family size, are associated with male infertility. In addition, we performed association analysis between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility.

Methods

We genotyped 145 patients with infertility (including 83 patients with azoospermia and 62 with oligozoospermia) and 713 fertile controls by PCR-RFLP technique for polymorphism. Because rs10966811 has no restriction sites, the SNP rs12376894 with strong linkage disequilibrium was selected as an alternative to rs10966811.

Results

There was a statistically significant association between rs12376894 proxy SNP of rs10966811 and oligozoospermia. Also, a statistically significant association between rs10129954 and azoospermia, and oligozoospermia was observed. When we assessed the relationship between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility traits, we found that rs12348 in TUSC1 was significantly associated with azoospermia and oligozoospermia, but rs2772579 in IZUMO3 was not associated with male infertility.

Conclusion

We found that the polymorphisms in TUSC1 and DPF3 displayed strong associations with male infertility.

     

Association of a <Emphasis Type="Italic">TDRD1</Emphasis> variant with spermatogenic failure susceptibility in the Han Chinese

Purpose

Piwi-interacting RNAs (piRNAs) are a broad group of noncoding small RNAs that have important biological functions in germline cells and can maintain genome integrity via silencing of retrotransposons. In this study, we aimed to explore the associations between genetic variants of important genes involved in piRNA biogenesis and male infertility with spermatogenic impairment.

Methods

To this end, five single-nucleotide polymorphisms (SNPs) in the ASZ1, PIWIL1, TDRD1, and TDRD9 genes were genotyped by TaqMan allelic discrimination assays in 342 cases of nonobstructive azoospermia (NOA) and 493 controls.

Results

The SNP rs77559927 in TDRD1 was associated with a reduced risk of spermatogenic impairment. The genotypes TC and TC?+?CC showed odds ratios and 95 % confidence intervals of 0.73 (0.55–0.98, P?=?0.034) and 0.73 (0.56–0.97, P?=?0.030), respectively, in patients with NOA compared with those in the controls.

Conclusion

Thus, our results provided the first epidemiological evidence supporting the involvement of TDRD1 genetic polymorphisms in piRNA processing genes in determining the risk of spermatogenic impairment in a Han Chinese population.

     

Genetic variation in matrix metalloproteinase <Emphasis Type="Italic">MMP2</Emphasis> and <Emphasis Type="Italic">MMP9</Emphasis> as a risk factor for idiopathic recurrent spontaneous abortions in an Indian population

Purpose

Matrix metalloproteinases, MMP2 and MMP9, are found to have an important role during ovulation and pregnancy because of their capacity to degrade components of the extracellular matrix (ECM) thereby facilitating cell migration and angiogenesis. In this respect, the aim of the present study was to evaluate the association of the promoter polymorphisms ?1306 C > T and ?1562 C/T in MMP2 and MMP9 respectively with couples diagnosed with idiopathic recurrent spontaneous abortions (IRSA). The expression levels of these two genes were also studied in fetal tissue.

Methods

In this case control study, a total of 35 couples with at least three consecutive IRSA and 35 fertile couples were included. Genotype analysis was performed using polymerase chain reaction and Sanger sequencing.

Results

No statistically significant differences were found in distribution of MMP2-1306C/T and MMP9-1562C/T genotypes in the three groups between the cases and controls.

Conclusion

Further genetic association studies on a larger number of IRSA couples, as well as evaluation of more MMP polymorphisms and their expression profiling are needed to establish the potential role of MMP polymorphisms in IRSA.

     

Aberrant endometrial DNA methylome of homeobox A10 and catechol-<Emphasis Type="Italic">O</Emphasis>-methyltransferase in endometriosis

Purpose

Differential methylation of both HOXA10 and catechol-O-methyltransferase (COMT) has been reported in different endometrium disorders, and the two genes are linked through the estrogen pathway. The current study investigates the DNA methylation of HOXA10 and COMT in ectopic and eutopic endometrial tissues and its correlation with and the occurrence of endometriosis in women from Xinjiang province in China.

Methods

In the current study, 120 patients with endometriosis were recruited from our hospital between January 2011 and June 2014. The DNA methylation sites of HOXA10 and COMT were detected using a DNA methylation array. The methylation levels of specific sites were compared between ectopic and eutopic endometrial tissues via pyrosequencing.

Results

Five differentially expressed CpGs were localized in the promoter region of the COMT gene and expressed significantly higher in the ectopic endometrium than the eutopic endometrium (P?<?0.001). Two out of the five differentially expressed CpGs in the HOXA10 gene located in the promoter region were both significantly lower (nearly half) in the ectopic endometrium than the eutopic endometrium (P?<?0.001).

Conclusions

To summarize, significant differential methylation of HOXA10 and COMT promoter regions was found between the ectopic and eutopic endometrial tissues. This is the first study investigating the methylation of HOXA10 and COMT genes and their linkage to endometriosis in Chinese patients.

     

Impact of the <Emphasis Type="Italic">FSHB</Emphasis> gene -211G/T polymorphism on male gonadal function

Purpose

The FSHB gene -211G/T polymorphism has been reported to modulate gene expression and to cause inter-individual differences in FSH serum levels in men. This study was undertaken to assess the functional relevance of this polymorphism on gonadotropin and total testosterone serum levels and sperm parameters in men from Eastern Sicily (Italy).

Methods

To accomplish this, 200 men with abnormal conventional sperm parameters or normozoospermia (according to the parameters of WHO 2010) were genotyped by TaqMan Assay.

Results

The frequency of FSHB -211 T allele was significantly higher (p < 0.005) in patients with altered conventional sperm parameters (18.9% of chromosomes) compared to that observed in men with normozoospermia (10.9% of chromosomes). Decreasing serum levels of FSH and LH were observed across the three FSHB -211 genotype subgroups (p < 0.001 and p < 0.05, respectively). In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (p = 0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward motility and testicular volume in men with GT and TT genotypes.

Conclusions

These findings showed that the FSHB -211 G/T polymorphism modulates male gonadal function with a clear influence on hormonal levels and sperm parameters.

Capsule

The present study was undertaken to evaluate the distribution of the FSHB -211 G/T in men with normal or abnormal sperm parameters from Southern Italy to assess its functional relevance on the serum levels of reproductive hormones and on sperm parameters in men.

     

Seminal plasma <Emphasis Type="Italic">HSPA2</Emphasis> mRNA content is associated with semen quality

Purpose

Cell-free mRNAs (cfmRNAs) were quantitatively measured in human seminal plasma and its relationship with semen quality was investigated.

Methods

Herein, a prospectively, controlled investigation was performed to study seminal plasma HSPA2 and uPA cfmRNA alterations between 21 asthenozoospermic patients and 16 normozoospermic individuals. Standard semen analysis was performed and seminal plasma cfmRNAs content was measured by real-time quantitative PCR. In addition, the regression analysis between seminal plasma cfmRNAs expression and semen parameters was performed.

Results

Seminal plasma HSPA2, but not uPA cfmRNA indicated significant difference between normozoospermia and asthenozoospermia men (P?=?0.02444 and 0.07811, respectively). Negative correlation between HSPA2 cfmRNA and sperm motility (R ²?=?0.213, P?=?0.004) as well as sperm concentration (R ²?=?0.133, P?=?0.026) were revealed. However, no correlation was found between seminal plasma uPA cfmRNA content and semen parameters.

Conclusions

Our data suggest that seminal plasma HSPA2 cfmRNA is different between asthenozoospermic and normozoospermic individuals and it might be an indicator for semen quality.

     

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel <Emphasis Type="Italic">DNAH5</Emphasis> mutations

Purpose

Kartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.

Methods

The two cases of KS from the same family underwent extensive clinical assessments, with next-generation DNA sequencing and bioinformatics analysis to identify pathogenic genes. In addition, Sanger sequencing was used to verify the pedigrees.

Results

The present study employed a directional capture strategy for hereditary disease screening, which correctly identified the virulence sites in the pedigree, and facilitated the differential diagnosis among multiple genes. Two novel mutations were detected in DNAH5: c.7778C>T (missense mutation) and c.13729G>A (nonsense mutation). They were not found in dbSNP, 1000 Genomes, and ExAC.

Conclusions

These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of KS, providing families with genetic counseling and prenatal diagnosis.

     

Predicting cervical intraepithelial neoplasia recurrence in HIV-infected and -noninfected women by detecting aberrant promoter methylation in the <Emphasis Type="Italic">CDH1, TIMP3,</Emphasis> and <Emphasis Type="Italic">MGMT</Emphasis> genes

Purpose

Aberrant DNA methylation is present in virtually all types of human cancer. There is no clear evidence that methylation status can predict bad prognosis in patients with CIN recurrence in HIV infected. This study evaluates the relationship between aberrant methylation of CpG islands of CDH1, TIMP3 and MGMT genes and CIN recurrence in HIV-infected and -noninfected women.

Methods

This is a nested case–control study involving 33 cases with CIN recurrence and 114 controls without recurrence, HIV infected and noninfected, treated with LEEP, between 1999 and 2004. Recurrence diagnosis was established after biopsy. Genes methylation profile was assessed by MSP-PCR technique in formalin-fixed, paraffin-embedded cone specimens. Statistical analysis was performed to compare categorical variables, using χ² test with Yates correction and Fisher’s exact test. Multivariate analysis was carried out using logistic regression.

Results

CIN recurrence was more frequent in women with glandular involvement (OR 11.6; 95% CI 2.93–45.89) and compromised surgical margins (OR 2.5; 95% CI 0.87–7.27) in the cervical cone and in HIV-infected women (OR 2.47; 95% CI 0.87–7.05). One methylated allele of CDH1, TIMP3 and MGMT genes was present in 87.9% women with CIN recurrence. Promoter hypermethylation of TIMP3 and MGMT was detected in women with CIN recurrence and without CIN recurrence independent of HIV infection with significant difference between groups (p?=?0.04 and p?=?0.02, respectively).

Conclusions

CIN recurrence was associated with glandular involvement and compromised margins in cone biopsy and HIV infection. The presence of CpG islands hemimethylation in TIMP3 and MGMT genes is a promising triage method in CIN recurrence.

     

Association study of <Emphasis Type="Italic">HNF1A</Emphasis> in women with polycystic ovary syndrome

Purpose

This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS).

Methods

One thousand one hundred thirty-eight PCOS and 1125 healthy control Han Chinese women were recruited from Reproductive Hospital Affiliated to Shandong University. Serum hormone, blood lipid level, and genomic DNA were obtained from the peripheral blood for this research. Two single-nucleotide polymorphisms (SNPs)—rs2393791 and rs7305618—located in HNF1A were genotyped using the Sequenom MassARRAY system.

Results

The allele frequencies of SNP rs7305618 had significant differences between PCOS patients and controls after adjusting for age and BMI (p = 0.023). Besides, PCOS patients carrying the rs7305618 CC genotype shown a higher testosterone level than the patients with CT + TT genotypes after being adjusted by age and BMI (p = 0.019).

Conclusions

A SNP located in the HNF1A gene is associated with PCOS among Han Chinese women. This suggested that variations in HNF1A might confer risk for PCOS.

     

<Emphasis Type="Italic">ESR1</Emphasis> and <Emphasis Type="Italic">ESR2</Emphasis> gene polymorphisms are associated with human reproduction outcomes in Brazilian women

Background

Important candidate genes involved in the ovarian response to exogenous FSH are the estrogen receptor genes (ESRs), since the effects of estrogens on follicle growth, maturation and oocyte release. It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. Inspired on this information we aimed to analyze four different polymorphisms in the estrogen receptor genes ESR1: rs2234693/T-397C (PvuII) and rs9340799/A-351G (Xbal) and ESR2: rs4986938/G1082A (RsaI) and rs1256049/A?+?1730G (AluI), and their association with assisted reproduction outcomes in Brazilian women that underwent in vitro fertilization (IVF).

Methods

A cross-sectional study was performed involving 136 infertile women less than 39 years of age with normal ovarian reserve. Patients were divided according to the same COH protocol for statistical analysis. The Taqman assay was used for PvuII and XbaI of ESR1, and RsaI and AluI of ESR2 genotyping. Serum estradiol and FSH were measured by Elisa assay.

Results

The PvuII (ESR1) TT and RsaI (ESR2) GG genotypes were associated with a longer induction period and higher doses of medication (p?<?0.03). The XbaI (ESR1) AA genotype was associated with better COH results, including a larger number of follicles, mature oocytes, embryos, and good quality embryos (p?<?0.05). The AluI GG genotype showed an association with the Ovarian Hyperstimulation Syndrome (OHSS) (p?=?0.03). According to the haplotype analysis of ER1 (PvuII/XbaI), we demonstrated that the CA combination increases by 0.68 the number of good quality embryos while the TG decreases it by 0.71 (p?=?0.04).

Conclusion

ER polymorphisms have an association with the assisted reproduction outcomes in Brazilian women.

     

Meta-analysis demonstrates no association between <Emphasis Type="Italic">p16</Emphasis><Superscript><Emphasis Type="Italic">ink4a</Emphasis></Superscript> promoter methylation and epithelial ovarian cancer

Background

p16 ^INK4A (p16) functions as a tumor suppressor gene in various malignancies. Aberrant p16 methylation has been proposed to be essential in ovarian carcinogenesis. However, it is unclear whether p16 can be used as a diagnostic marker owing to the small sample sizes in previous studies.

Methods

To determine whether p16 promoter methylation is associated with epithelial ovarian cancer and can thus be used as a diagnostic marker, we performed a meta-analysis of published studies. The following databases were searched using a systematic search method: PubMed, Web of Science, EMBASE, and Chinese National Knowledge Infrastructure. We used a random-effects model to analyze the relative risk (RR); we also evaluated between-study heterogeneity, subgroup heterogeneity, and publication bias.

Results

Our meta-analysis included eight eligible studies, with 428 ovarian cancers and 278 normal tissue samples and benign neoplasms. p16 promoter methylation was identified in 5.4 to 43.2% (median 27.86%) of ovarian cancers and 0 to 37.5% (median 15.8%) of normal tissue and benign neoplasms indicating that no significant association exists between p16 promoter methylation and epithelial ovarian cancer. However, the pooled results also showed that the RR was 1.52 (95% CI 0.80–2.87) in the ovarian cancer cases versus the corresponding normal and benign cases under the random-effects model. Between-study heterogeneity was determined through a sensitivity analysis; the I ² value did not change when one study was excluded.

Conclusions

Our study showed that p16 promoter methylation cannot be used to differentiate benign from malignant epithelial ovarian tumors. Therefore, p16 promoter methylation cannot be used as a marker for diagnosing the early stage of ovarian cancer.

     

Correlation of polypeptide <Emphasis Type="Italic">N</Emphasis>-acetylgalactosamine transferases-3 and -6 to different stages of endometriosis

Purpose

To investigate the expression patterns of N-acetyl galactosamine transferases (GalNAc-Ts)-3 and GalNAc-T6 in clinicopathologically characterized endometriosis (EMS), and to explore their clinical significance.

Methods

Ectopic and eutopic endometrial tissue samples were obtained and confirmed with CD-10 immunohistochemistry in patients with EMS (n?=?12), whereas normal control endometrium was obtained from patients with uterine septum (n?=?12). The mRNA and protein levels of GalNAc-T3 and GalNAc-T6 were detected in these samples using quantitative real-time PCR, immunohistochemistry, and western blotting.

Results

GalNAc-T3 and GalNAc-T6 were expressed in the endometrium of all groups, with no significant changes observed during the menstrual cycle. The expression of GalNAc-T3 and GalNAc-T6 in ectopic endometrium was significantly lower than that in eutopic (P?<?0.05) or control endometrium (P?<?0.05), whereas there were no significant differences (P?>?0.05) between eutopic and control endometria. Furthermore, the expression of GalNAc-T3 and GalNAc-T6 was significantly lower in patients with stage III/IV EMS compared to patients with stage I/II (P?<?0.05).

Conclusions

Both GalNAc-T3 and GalNAc-T6 expression levels were downregulated in ectopic endometrium, which may increase the adhesion and invasion of endometrial cells and contribute to the development of EMS. Moreover, we found a strong correlation between the expression of GalNAc-T3 and GalNAc-T6 and different stages of EMS.

     

Association of <Emphasis Type="Italic">GRP78</Emphasis> promoter polymorphisms and serum GRP78 level with risk of asthenozoospermia

Purpose

The aim of this study was undertaken to investigate the association of 78-kDa glucose-regulated protein (GRP78) gene promoter polymorphisms with risk of asthenozoospermia (AZS) men. In addition, we performed association analysis between GRP78 promoter mutations and serum GRP78 level in asthenozoospermia.

Methods

The study population comprised 400 subjects with AZS patients and 400 healthy controls. We assessed GRP78 rs3216733, rs17840761, and rs17840762 polymorphisms by using Snapshot SNP genotyping assays; serum GRP78 level was measured by enzyme-linked immunosorbent assay (ELISA). Semen quality was assessed by computer-assisted semen analysis.

Results

We found that rs3216733 was associated with increased risk of AZS (Gd vs. dd: adjusted OR?=?1.42, 95% CI, 1.06–1.93, P =?0.020; Gd/GG vs. dd: adjusted OR?=?1.43, 95% CI, 1.08–1.91, P =?0.013; G vs. d adjusted OR?=?1.26, 95% CI, 1.03–1.56, P =?0.027). The haplotype analyses showed the frequency of G-C-C haplotype was significantly higher in AZS (P =?0.026). The percentage of progressive motility sperm was lower in the asthenozoospermic men with Gd and Gd/GG genotypes than dd genotype (P =?0.003). Moreover, the serum GRP78 levels were significantly lower in rs3216733 Gd/GG genotypes compared with the dd genotype (P <?0.001).

Conclusion

Our findings suggest that rs3216733 Gd/GG genotypes contribute to poor sperm motility, probably by decreasing the level of GRP78.