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Exploring the potential impact of nutritionally actionable genetic polymorphisms on idiopathic male infertility:a review of current evidence

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Asian Journal of Andrology 2021年第5期23卷 441-449页

作者： Sinda Mahbouli Charlotte Dupont Yaelle Elfassy Eric Lameignere Rachel Levy FabLife 104 Avenue Albert lerRueil-Malmaison 92500France Sorbonne University Saint Antoine Research CentreINSERM Genetic and Acquired Lipodystrophies TeamReproductive Biology and CECOSAP-HPTenon HospitalParis F-75020France Reproductive Biology and CECOS AP-HPTenon HospitalParis F-75020France

Infertility affects about 15%of the world's *** 40%-50%of infertile couples,a male factor underlies the problem,but in about 50%of these cases,the etiology of male infertility remains *** clinical data show that lifestyle interventions may contribute to male reproductive *** of unhealthy habits is suggested for preserving male fertility;there is growing evidence that most preexisting comorbidities,such as obesity and metabolic syndrome,are highly likely to have an impact on male *** analysis of genetic polymorphisms implicated in metabolic activity represents one of the most exciting areas in the study of genetic causes of male *** these polymorphisms are not directly connected with male infertility,they may have a role in specific conditions associated with it,that is,metabolic disorders and oxidative stress pathway genes that are potentially associated with an increased risk of male infertility due to DNA and cell membrane *** studies have examined the impact of individual genetic differences and gene-diet interactions on male infertility,but their results have not been *** review the current research to identify genetic variants that could be tested to improve the chances of conceiving spontaneously through personalized diet and/or oral vitamin and mineral supplementation,by examining the science of genetic modifiers of dietary factors that affect nutritional status and male fertility.

关键词： energy metabolism genetic polymorphisms idiopathic male infertility lifestyle factors nutrition oxidative stress semen quality

No association between phosphatase and tensin homolog genetic polymorphisms and colon cancer

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World Journal of Gastroenterology 2009年第30期15卷 3771-3775页

作者： Lynette S Phillips Cheryl L Thompson Alona Merkulova Sarah J Plummer Thomas C Tucker Graham Case Li Li Department of Epidemiology and Biostatistics and Case Comprehensive Cancer Center Case Western Reserve University Cleveland OH 44106-7136 United States Departments of Family Medicine and Epidemiology and Biostatistics Case Center for Transdisciplinary Research on Energetics and Cancer Case Comprehensive Cancer Center Case Western Reserve University Cleveland OH 44106-7136m United States Department of Cancer Biology Cleveland Clinic Foundation Cleveland OH 44195-0001 United States Graham Casey Department of Preventive Medicine University of Southern California Los Angeles CA 90033-1006 United States assisted with patient referrals recruitment and reviewed the manuscript coordinated the lab work and reviewed the manuscript Li L led the study design data collection and assisted with the manuscript preparation

AIM: To investigate the association between single nucleotide polymorphisms (SNPs) in the phosphatase and tensin homolog (PTEN) tumor suppressor gene and risk of colon cancer. METHODS: We utilized a population-based casecontrol study of incident colon cancer individuals (n= 421) and controls (n = 483) aged ≥ 30 years to conduct a comprehensive tagSNP association analysis of the PTEN gene. RESULTS: None of the PTEN SNPs were statistically significantly associated with colon cancer when controlled for age, gender, and race, or when additionally adjusted for other known risk factors (P > 0.05). Haplotype analyses similarly showed no association between the PTEN gene and colon cancer. CONCLUSION: Our study does not support PTEN as a colon cancer susceptibility gene.

关键词： Colon cancer Phosphatase and tensinhomolog Candidate gene genetic polymorphisms Single nucleotide polymorphism association

genetic polymorphisms in cytochrome P4502E1, alcohol and aldehyde dehydrogenases and the risk of esophageal squamous cell carcinoma in Gansu Chinese males

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World Journal of Gastroenterology 2008年第9期14卷 1444-1449页

作者： Yan-Mei Guo Qin Wang Yan-Zhen Liu Huei-Min Chen Zhi Qi Qing-Hong Guo Department of Clinical Medicine Gansu College of Traditional Chinese Medicine Lanzhou 730000 Gansu Province China Department of Gastroenterology First Hospital of Lanzhou University Lanzhou 730000 Gansu Province China Matheson Library Library Monash University Victoria 3800 Australia

AIM:To evaluate the association between genetic polymorphisms in CYP2E1, ALDH2 and ADH1B and the risk of esophageal squamous cell carcinoma (ESCC) in a high risk area of Gansu Province, in Chinese males. METHODS: A case-control study was conducted to investigate the genetic polymorphisms of these enzymes (CYP2E1 *c1/*c2, ALDH2 *1/*2 and ADH1B *1/*1 genotypes). A total of 80 esophageal cancer cases and 480 controls were recruited. RESULTS: Compared with controls, cases had a greater prevalence of heavier alcohol consumption (53.8% vs 16.2%) and a higher proportion of alcohol drinkers with > 30 drink-years (28.8% vs 13.5%). Heavier alcohol consumption and alcohol drinking with > 30 drink- years increased the risk of ESCC, with ORs (95% CI) of 3.20 (1.32-9.65) and 1.68 (0.96-3.21). CYP2E1 (*c1/*c1), ALDH2 (*1/*2) and ADH1B (*1/*1) genotype frequencies were higher among patients with squamous cell carcinomas, at a level close to statistical significance (P = 0.014; P = 0.094; P = 0.0001 respectively). There were synergistic interactions among alcohol drinking and ALDH2, ADH1B and CYP2E1 genotypes. The risk of the ESCC in moderate-to-heavy drinkers with an inactive ALDH2 encoded by ALDH2 *1/*2 as well as ADH1B encoded by ADH1B *1/*1 and CYP2E1 encoded by CYP2E1 *c1/*c1 was higher than that in the never/rare-to-light drinkers with an active ALDH2 (*1/*1 genotype) as well as ADH1B (*1/*2 + *2/*2) and CYP2E1 (*c1/*c2 + *c2/*c2) genotypes, with a statistically significant difference; ORs (95% CI) of 8.58 (3.28-22.68), 27.12 (8.52-70.19) and 7.64 (2.82-11.31) respectively. The risk of the ESCC in moderate-to-heavy drinkers with ALDH2 (*1/*2) combined the ADH1B (*1/*1) genotype or ALDH2 (*1/*2) combined the CYP2E1 (*c1/*c1) genotype leads to synergistic interactions, higher than drinkers with ALDH2 (*1/*1) + ADH1B (*1/*2 + *2/*2), ALDH2 (*1/*1) + CYP2E1 (*c1/*c2 + *c2/*c2) respectively , ORs (95% CI) of 7.46 (3.28-18.32) and 6.82 (1.44-9.76) respectively. Individuals with the

关键词： Esophageal squamous cell carcinoma Cytochromes P4502E1 Alcohol dehydrogenases Aldehyde dehydrogenases genetic polymorphisms

genetic polymorphisms of ADH2 and ALDH2 association with esophageal cancer risk in southwest China

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World Journal of Gastroenterology 2007年第43期13卷 5760-5764页

作者： Shu-Juan Yang Hua-Yu Wang Xiao-Qing Li Hui-Zhang Du Can-Jie Zheng Huai-Gong Chen Xiao-Yan Mu Chun-Xia Yang Department of Epidemiology HuaxiPublic Health School Sichuan University Chengdu 610041Sichuan Province China Yanting CancerPrevention and Treatment Institute. Yanting 621600 SichuanProvince China

AIM＂ TO evaluate the impact of alcohol dehydrogenase 2 （ADH2） and aldehyde dehydrogenase 2 （ALDH2） polymorphisms on esophageal cancer risk. METHODS;One hundred and ninety-one esophageal cancer patients and 198 healthy controls from Yanting County were enrolled in this study. ADH2 and ALDH2 genotypes were examined by polymerase-chain-reaction with the confronting-two-pair-primer （PCR-CTPP） method. Unconditional logistic regression was used to calculate the odds ratios （OR） and 95% confidence interval （95% CI）. RESULTS; Both ADH2＊1 allele and ALDH2＊1/＊2 allele showed an increased risk of developing esophageal cancer. The adjusted OR （95% CI） for ADH2＊1 allele compared with ADH2＊2/＊2 was 1.65 （95% CI = 1.02-2.68） and 1.67 （95% CI = 1.02-2.72） for ALDH2＊1/＊2 compared with ALDH2＊1/＊1. A significant interaction between ALDH2 and drinking was detected regarding esophageal cancer risk, the OR was 1.83 （95% CI = 1.13-2.95）. Furthermore, when compared with ADH2＊2/＊2 and ALDH2＊1/＊1 carriers, ADH2＊1 and ALDH2＊2 carriers showed an elevated risk of developing esophageal cancer among non-alcohol drinkers

关键词： Esophageal cancer Alcohol dehydrogenase 2 Aldehyde dehydrogenase 2 genetic polymorphisms

genetic polymorphisms Contribute to the Individual Variations of Imatinib Mesylate Plasma Levels and Adverse Reactions in Chinese GIST Patients

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Genetic Polymorphisms Contribute to the Individual Variation...

Impact of UGT1A9, UGT1A8, UGT2B7, ABCC2, ABCG2 and SLCO1B3 genetic polymorphisms on mycophenolic acid metabolism in Chinese renal transplant recipients

石河子大学2017年“一带一路”核心区创新驱动发展博士论坛医学分论坛

作者： Jing Liu Zhiyu Chen Hanmei Chen Yingyong Hou Weiqi Lu Junyi He Hanxing Tong Yuhong Zhou Weimin Cai Department of Clinical Pharmacy School of Pharmacy Fudan University Department of Medical Oncology Shanghai Cancer Center Fudan University Department of Pathology Zhongshan Hospital Fudan University Department of General Surgery Zhongshan Hospital Fudan University Department of Medical Oncology Zhongshan Hospital Fudan University

Imatinib mesylate(IM) has dramatically improved the outcomes of gastrointestinal stromal tumor(GIST) patients. However, the clinical responses of IM may considerably vary among single individuals. This study aimed to investigate the influences of genetic polymorphisms of drug-metabolizing enzyme(CYP3A4), transporters(ABCB1, ABCG2), and nuclear receptor(Pregnane X Receptor(PXR, encoded by NR1I2)) on IM plasma levels and related adverse reactions in Chinese GIST patients. A total of 68 Chinese GIST patients who have received IM 300–600 mg/day were genotyped for six single nucleotide polymorphisms(SNPs)(CYP3A4 rs2242480;ABCB1 rs1045642;ABCG2 rs2231137;NRI12 rs3814055, rs6785049, rs2276706), and the steady-state IM trough plasma concentrations were measured by a validated HPLC method. There were statistically significant variances in the steady-state IM trough plasma concentrations(from 272.22 to 4365.96 ng/m L). Subjects of GG in rs2242480, T allele carriers in rs1045642 and CC in rs3814055 had significantly higher steady-state IM dose-adjusted trough plasma concentrations. Subjects of CC in rs3814055 had significantly higher incidence rate of edema. The genetic polymorphisms of rs2242480, rs1045642, rs3814055 were significantly associated with IM plasma levels, and the genetic variations of rs3814055 were significantly associated with the incidence rate of edema in Chinese GIST patients. The current results may serve as valuable fundamental knowledge for IM therapy in Chinese GIST patients.

关键词： imatinib mesylate gastrointestinal stromal tumor genetic polymorphisms plasma levels adverse reactions Chinese

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Impact of UGT1A9, UGT1A8, UGT2B7, ABCC2, ABCG2 and SLCO1B3 g...

genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review

2018中国遗传学会第十次全国会员代表大会暨学术讨论会

作者： Li-qing Li Di-na Chen Chuan-jiang Li Qing-ping Li Yan Chen Ping Fang Ping Zheng Hui-jie Lu De-mei Ye Hao-yang Wan Jie Li Liang Li Department of Medical genetics School of Basic Medical SciencesSouthern Medical University Department of Hepatobiliary Surgery Nanfang HospitalSouthern Medical University Department of Pharmacy Nanfang HospitalSouthern Medical University

Mycophenolate mofetil（MMF） is an immunosuppressive drug used with organ transplant recipients. The active metabolite of MMF is mycophenolic acid（MPA）, which has considerable interpatient variability in its pharmacokinetics. genetic variants may be important in this variability. This study evaluated genetic variants affecting MPA metabolism in Chinese renal transplant recipients. A retrospective study of 408 Chinese renal transplant recipients receiving MMF as an immunosuppressive drug was conducted. Eleven single nucleotide polymorphisms（SNPs） of UGT1 A9, UGT1 A8, UGT2 B7, ABCC2, ABCG2, and SLCO1 B3 were genotyped with the high resolution melting assay. Associations between each SNP and MPA concentration/dose ratio（C0/D） were analyzed using different genetic models. Pearson correlation was used to analyze associations between C0/D and clinical factors. UGT2 B7 rs7662029 genotype was associated with MPA C0/D using a dominant（p = 0.024） and an additive model（p = 0.028）. ABCC2 rs717620 genotype was associated with C0/D using a recessive model（p = 0.043）. Using the additive model, SNP-SNP interactions were identified（p = 0.002） between ABCC2 rs717620 and UGT1 A9 rs2741049 with similar interactions（p = 0.002） between ABCC2 rs717620 and UGT1 A8 rs1042597. Age, weight, hematocrit, hemoglobin, albumin and direct bilirubin were significantly associated with MPA C0/D. UGT2 B7 rs7662029 and ABCC2 rs717620 might be SNPs that affect MPA pharmacokinetics in Chinese renal transplant recipients. SNP-SNP interactions and clinical factors may have significant effects on MPA metabolism.

关键词： mycophenolic acid UGT1A9,UGT1A8 UBT2B7,ABCC2,ABCG2 SLCO1B3 genetic polymorphisms pharmacokinetics,renal transplantation

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World Journal of Gastroenterology 2016年第29期22卷 6742-6756页

作者： Tyler J Severson Siddesh Besur Herbert L Bonkovsky Department of Gastroenterology and Hepatology Wake Forest University NC Baptist Medical Center Abdominal Transplant Program Aurora St Luke’s Medical Center

AIM: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease (NAFLD) onset, severity, and outcome through systematic literature ***: The authors conducted both systematic and specific searches of PubMed through December 2015 with special emphasis on more recent data (from 2012 onward) while still drawing from more historical data for background. We identified several specific genetic polymorphisms that have been most researched and, at this time, appear to have the greatest clinical significance on NAFLD and similar hepatic diseases. These were further investigated to assess their specific effects on disease onset and progression and the mechanisms by which these effects ***: We focus particularly on genetic polymorphisms of the following genes: PNPLA3, particularly the p. I148M variant, TM6SF2, particularly the p. E167K variant, and on variants in FTO, LIPA, IFNλ4, and iron metabolism, specifically focusing on HFE, and HMOX-1. We discuss the effect of these genetic variations and their resultant protein variants on the onset of fatty liver disease and its severity, including the effect on likelihood of progression to cirrhosis and hepatocellular carcinoma. While our principal focus is on NAFLD, we also discuss briefly effects of some of the variants on development and severity of other hepatic diseases, including hepatitis C and alcoholic liver disease. These results are briefly discussed in terms of clinical application and future potential for personalized ***: polymorphisms and genetic factors of several genes contribute to NAFLD and its end results. These genes hold keys to future improvements in diagnosis and management.

关键词： genetic polymorphisms Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis PNPLA3 TM6SF2 FTO Cirrhosis Iron metabolism

genetic Polymorphism Investigation of 19 X‑STR Loci in the Han Population in Northern China

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Journal of Forensic Science and Medicine 2022年第3期8卷 123-130页

作者： Shicheng Hao Yan Liu Yan Xu Dong Zhao Gexin Liu Jinpei Zhang Li Yuan Key Laboratory of Evidence Science China University of Political Science and LawMinistry of EducationBeijingChina

To investigate the genetic polymorphisms of 19 X‑STR loci in the Han population in Northern China,samples from 628 unrelated individuals(314 males and 314 females)were collected and 19 X‑STR loci were amplified by AGCU X19 STR System.A total of 270 different alleles were detected in 19 X‑STR *** loci were in Hardy−Weinberg equilibrium and there was only one pair of linkage loci(DXS10103‑DXS10101).There was no significant difference in allele frequency between male and female *** combined power of discrimination in males was 1–1.8667×10−13,while the combined power of discrimination in females was 1–3.6532×10−*** combined mean paternity exclusion chance(CMEC)for X-chromosomal markers in father/daughter or mother/son duos Mean paternity exclusion chance(MECDesmarais Duo)was 1–5.1109×10−***,the CMEC for X-chromosomal markers in trios involving daughters(MECDesmarais)was 1–2.0292×10−*** compound amplification system composed of 19 X‑STR in this study showed high polymorphism in the Han population of Northern China,which had a high application value in difficult genetic relationship identification.

关键词： Forensic genetics genetic polymorphisms northern Han X chromosome STR

genetic and structural characterization of 20 autosomal short tandem repeats in the Chinese Qinghai Han population and its genetic relationships and interpopulation differentiations with other reference populations

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Forensic Sciences Research 2018年第2期3卷 145-152页

作者： Zhanhai Wang Bin Lu Xiaoye Jin Jiangwei Yan Haotian Meng Bofeng Zhu The Public Security Bureau of Qinghai Province XiningChina Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi'an Jiaotong UniversityXi'anChina Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases College of StomatologyXi'an Jiaotong UniversityXi'anChina Research Center of Stomatology Stomatological HospitalXi'an Jiaotong UniversityXi'anChina Beijing Institute of Genomics Chinese Academy of SciencesBeijingChina

China is a multinational country composed of 56 ethnic groups of which the Han Chinese accounts for 91.60%.Qinghai Province is located in the northeastern part of the Qinghai-Tibet Plateau,has an area of 72.12 km2,and is the fourth largest province in *** the present study,we investigated the genetic polymorphisms of 20 short tandem repeat (STR) loci in a Qinghai Han population,as well as its genetic relationships with other populations.A total of 273 alleles were identified in 2 000 individuals at 20 loci,and the allelic frequency ranged from 0.0002 to *** 20 STR loci showed a relatively high polymorphic rate in the studied *** and expected heterozygosities ranged 0.613 0-0.907 5 and 0.614 8-0.920 0,*** combined power of discrimination,and the probability of exclusion in duo and trio cases were 0.999 999 999 999 999 999 999 999 34,0.9999960 and 0.9999999965,*** of interpopulation differentiation revealed that the most significant differences were found between the Qinghai Han and Malaysian,while no significant differences were found between the Qinghai Han and Han people from Shaanxi and *** results of principal component analysis,multidimensional scaling analysis and phylogenetic reconstructions also suggested the close relationships between the Qinghai Han and other two Han *** present results,therefore,indicated that these 20 STR loci could be used for paternity testing and individual identification in forensic applications,and may also provide information for the studies of genetic relationships between Qinghai Han and other groups.

关键词： genetic polymorphisms forensic genetics phylogenetic reconstruction short tandem repeat