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Purpose: To research the association between the single nucleotide polymorphisms (SNPs) of three spermatogenesis-related genes ( USF1, GTF2A1L and OR2W3) and non-obstruction azoospermia (NOA). Methods: We investigated 361 NOA cases and 368 controls from the Chinese Han population, and we used Sequenom iplex technology to analyze the candidate 9 SNPs from the USF1, GTF2A1L and OR2W3 genes. Results: In this study, we found that the variant rs2516838 of USF1 was associated with NOA susceptibility ( P = 0.020, OR = 1.436), and the haplotype TCG of the variants rs1556259, rs2516838, and rs2774276 of USF1 conferred an increased risk of NOA ( P = 0.019, OR = 1.436). Furthermore, we found that the rs11204546 genotype of OR2W3 and the rs11677854 genotype of GTF2A1L were correlated with the FSH level in the patients ( P = 0.004 and P = 0.018, respectively). Conclusions: Our results provided a new insight into susceptibility of USF1 variant with male infertility. Clinically, the SNPs (rs11204546 of OR2W3 and rs11677854 of GTF2A1L ) might be additional valuable molecular predictive markers for assessing the treatment of NOA patients. [ABSTRACT FROM AUTHOR]

This study aimed to analyze the distribution of single-nucleotide polymorphisms (SNPs) of testis-expressed 15 (TEX15) gene in the Chinese Han infertile men and fertile men. This case–control study comprised 309 infertile men with nonobstructive azoospermia (NOA, n = 199) or severe oligozoospermia (SO, n = 110) and 377 fertile controls. Six SNPs were genotyped by Sequenom iplex technology. The results showed that the variants rs323346 and rs323347 contributed to the increasing risk of SO (P = .041, odds ratio [OR] = 1.635, 95% confidence interval [CI] = 1.018-2.628 and P = .046, OR = 1.616, 95% CI = 1.006-2.597). The haplotype AT of the SNPs rs323347 and rs323346 could reduce risk in the patients with SO (P = .040, OR = 0.616, and 95% CI = 0.383-0.990). The haplotype GC of the variants rs323347 and rs323346 conferred a significantly increased risk of SO (P = .040, OR = 1.624, 95% CI = 1.010-2.610). Thus, the polymorphisms rs323346 and rs323347 of the TEX15 gene could be considered the genetic risk factors for spermatogenic failure in the Chinese Han population. [ABSTRACT FROM AUTHOR]

Purpose: To investigate associations between genetic variants involved in microRNA networks (microRNA biogenesis, microRNA and microRNA binding sites) and risk of gastric cancer. Methods: We genotyped 19 SNPs of the microRNA-related genes in a case-control study of 311 gastric cancers and 425 cancer-free controls in a Chinese Han population. Results: We found that two of the SNPs were significantly associated with gastric cancer. Inhibitory effect of minor allele T of rs2071504 SNP within the exon of POLR2A gene was significantly associated with gastric carcinogenesis ( p = 0.033, aOR = 0.742, 95%CI = 0.564-0.977) and the SNP rs895819 in the miR-27a gene with the minor allele C presented significantly reduced risk to gastric cancer ( p = 0.037, aOR = 0.771, 95%CI = 0.604-0.985). Further stratified analysis with regard to clinical pathological parameters of the patients indicated that the SNP rs2071504 was associated with lymph node metastasis ( p = 0.021, aOR = 0.529, 95%CI = 0.307-0.910) and TMN stage ( p = 0.021, aOR = 0.532, 95%CI = 0.311-0.908), respectively. Conclusions: Our findings provided evidence that the SNP rs2071504 in the exon of POLR2A gene would not only confer a decreased risk of gastric cancer, but also influence lymph node metastasis and TMN stage of gastric cancer in the Chinese population. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study was to investigate whether risk of gastric cancer (GC) was associated with single nucleotide polymorphisms (SNPs) in a gene cluster on the chromosome 17q12-q21 (ERBB2 amplicon) in the Chinese Han population. We detected twenty-six SNPs in this gene cluster containing steroidogenic acute regulatory-related lipid transfer domain containing 3 (STARD3), protein phosphatase 1 regulatory subunit 1B (PPP1R1B/DARPP32), titin-cap (TCAP), per1-like domain containing 1(PERLD1/CAB2), human epidermal growth factor receptor-2 (ERBB2/HER2), zinc-finger protein subfamily 1A 3 (ZNFN1A3/IKZF3) and DNA topoisomerase 2-alpha (TOP2A) genes in 311 patients with GC and in 425 controls by Sequenom. We found no associations between genetic variations and GC risk. However, haplotype analysis implied that the haplotype CCCT of STARD3 (rs9972882, rs881844, rs11869286 and rs1877031) conferred a protective effect on the susceptibility to GC (P=0.043, odds ratio [OR]=0.805, 95% confidence intervals [95% CI]=0.643–0.992). The STARD3 rs1877031 TC genotype endued histogenesis of gastric mucinous adenocarcinoma and signet-ring cell carcinoma (P=0.021, OR=2.882, 95% CI=1.173–7.084). We examined the expression of STARD3 in 243 tumor tissues out of the 311 GC patients and 20 adjacent normal gastric tissues using immumohistochemical (IHC) analysis and tissue microarrays (TMA). The expression of STARD3 was observed in the gastric parietal cells and in gastric tumor tissues and significantly correlated with gender (P=0.004), alcohol drinking (P<0.001), tumor location (P=0.007), histological type (P=0.005) and differentiation (P=0.023) in GC. We concluded that the combined effect of haplotype CCCT of STARD3 might affect GC susceptibility. STARD3 expression might be related to the tumorigenesis of GC in the Chinese population. [Copyright &y& Elsevier]

Abstract: Human DOC-2/DAB2 interactive protein (hDAB2IP) gene is a novel member of the Ras GTPase-activating family and has been demonstrated to be a tumor-suppressor gene that inhibits cell survival and proliferation and induces cell apoptosis. It was reported that the expression level of hDAB2IP in gastric cancer tissue was highly correlated with tumor progression, however, whether hDAB2IP genetic variants are associated with the risk of gastric cancer remains yet unknown. In this case–control study, we conducted a genetic analysis for hDAB2IP variants in 311 patients with gastric cancer and 425 controls from the Chinese Han population. We found that the SNP rs2243421 of hDAB2IP gene with the minor allele C significantly revealed strong association with decreased gastric cancer susceptibility (P=0.007, adjusted odds ratio [OR]=0.734, 95%CI=0.586–0.919). Haplotypes rs2243421 and rs10985332 (HaploType: CC, P=0.012, aOR=0.760) and haplotypes rs2243421 and rs555996 (HaploType: CG, P=0.034, aOR=0.788) represented the decreased risk of gastric cancer, respectively. On the contrary, rs2243421 and rs555996 showed an elevated susceptibility (HaploType: TG, P=0.010, aOR=1.320). Our results for the first time provided new insight into susceptibility factors of hDAB2IP gene variants in carcinogenesis of gastric cancer. [Copyright &y& Elsevier]

Objective Spermatogenesis and oogenesis specific basic helix-loop-helix 1 ( SOHLH1 ) and spermatogenesis and oogenesis specific basic helix-loop-helix 2 ( SOHLH2 ) play essential roles for both spermatogenesis and oogenesis. The aim of this study was to evaluate the association of SOHLH1 and SOHLH2 single nucleotide polymorphisms (SNPs) with non-obstructive azoospermia (NOA) in the Chinese population. Study design In this study, we assessed 7 single nucleotide polymorphisms (SNPs) of SOHLH1 and SOHLH2 with Sequenom iplex technology in 361 NOA cases and 368 fertile controls. Results We found that the SNPs rs1328626 and rs6563386 of SOHLH2 were significantly associated with NOA risk, of which, a protective effect of minor allele T of rs1328626 on NOA ( P = 0.038, odds ratio [OR] = 0.799, 95% confidence interval [CI] = 0.645–0.988) and a significantly increased risk of the SNP rs6563386 with the minor allele G to NOA ( P = 0.029, OR = 1.402, 95% CI = 1.034–1.9) were observed, respectively. Our data indicated that the haplotype GC of the variants rs1328626 and rs6563386 conferred a significantly increased risk of NOA ( P = 0.031, OR = 1.397, 95% CI = 1.031–1.895). Moreover, we found the genotype distribution of rs1328641 was significantly associated with testes volume in the NOA patients ( P = 0.022). Conclusions The polymorphisms rs1328626 and rs6563386 of the SOHLH2 gene would be the genetic risk factors for NOA in the Chinese population. The SNP rs1328641 might influence testes development in the NOA patients. [ABSTRACT FROM AUTHOR]