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Combined Effects of the FSHR 2039 A/G and FSHR-29 G/A Polymorphisms on Male Reproductive Parameters

Cannarella R, Musso N, Condorelli RA, Musmeci M, Stefani S, Vignera SL, Calogero AE

Purpose: The aim of this study was to evaluate the combined effect of FSHR 2039 A/G and FSHR-29 G/A single nucleotide polymorphisms (SNPs) on the male reproductive function in a...
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Comparison of single nucleotide polymorphisms and short tandem repeats as markers for differentiating between donors and recipients in solid organ transplantation

Lee HJ, Shin KH, Jeong SJ, Kim IS

Background: To analyze transplant rejection and to distinguish between donor and recipient, it is necessary to select a marker from single nucleotide polymorphism (SNP), short tandem repeat (STR), and human...
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Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome

Lee AJ, Jung I

Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung...
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Single-nucleotide polymorphismbased epidemiological analysis of Korean Mycobacterium bovis isolates

Kim TW, Jang YH, Jeong MK, Seo Y, Park CH, Kang S, Lee YJ, Choi JS, Yoon SS, Kim JM

Background: Bovine tuberculosis (TB) is caused by Mycobacterium bovis, a well-known cause of zoonotic tuberculosis in cattle and deer, and has been investigated in many physiological and molecular studies. However,...
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Positive Association of Human SHC3 Gene with Schizophrenia in a Northeast Chinese Han Population

Lv Y, Sun Y, Wang GY, Yin J, Li CJ, Luo YY, Luan ZL

Objective Schizophrenia is one of the most devastating neuropsychiatric disorders. Genetic epidemiological studies have confirmed that schizophrenia is a genetic disease. Genes promoting neurodevelopment may be potential candidates for schizophrenia....
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Association between the MUC1 rs4072037 Polymorphism and Risk of Gastric Cancer and Clinical Outcomes

Kim BS, Lee I, Yook JH, Song K, Kim BS

Purpose: Mucin 1 (MUC1) was identified as a gastric cancer (GC) susceptibility gene by genome-wide association studies in Asians and candidate gene studies in Europeans. This study aimed to investigate...
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Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

Owiredu WKBA, Appiah M, Obirikorang C, Adu EA, Boima V, Amos-Abanyie EK, Akyaw PA, Owiredu EW, Acheampong E

Background Chronic kidney disease (CKD) is a significant comorbidity among hypertensive patients. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) have been demonstrated to be significantly associated with CKD,...
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Associations of COL2A1 Gene Polymorphisms and Ankylosing Spondylitis in the Korean Population

Son ES, Um SH, Youn MY

With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have...
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Association of the Promoter Haplotype of IFN-γ-Inducible Protein 16 Gene with Schizophrenia in a Korean Population

Kang WS, Kim SK, Park HJ

Objective Viral infections play an important role in the development of schizophrenia, inducing the faulty immunological responses and aberrant inflammation. IFN-γ-inducible protein 16 (IFI16) is an immunological DNA sensor against...
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The Effects of Single Nucleotide Polymorphisms in Korean Patients with Early-onset Atrial Fibrillation after Catheter Ablation

Park YM, Roh SY, Lee DI, Shim J, Choi JI, Park SWP, Kim YH

Background: This study evaluated the status of single nucleotide polymorphisms (SNPs) in Korean patients with early-onset (< 40 years old) atrial fibrillation (AF) and their effects on the outcome after...
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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy

Yang J, Huang Y, Feng Y, Li H, Feng T, Chen J, Yin L, Wang W, Wang S, Liu Y, Song Y, Li Y, Jin J, Tan W, Lin D

PURPOSE: Mismatch repair (MMR) deficiency plays a critical role in rectal cancer. This study aimed to explore the associations between genetic variations in seven MMR genes and adverse events (AEs)...
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Association of IL-1 gene polymorphisms with chronic rhinosinusitis with and without nasal polyp

Mohamad S, Hamid SS, Azlina A, Md Shukri

BACKGROUND: Chronic rhinosinusitis (CRS) is one of the most common and complex chronic inflammatory disease of sinonasal mucosa. Even though the pathogenesis of CRS is multifactorial and still unclear, the...
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Single Nucleotide Polymorphisms Associated with Alcohol-Induced Flushing Syndrome in Korean Population

Lee JH, Seo HJ, Cho S, Kim MY, Lee SD

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean...
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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

Choi JY, Jang HM, Han S, Hwang MY, Kim BJ, Kim YJ

Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European...
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Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes

Park JS, Son JH, Park CS, Chang HS

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding...
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Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population

Farokhizadeh Z, Dehbidi S, Geramizadeh B, Yaghobi R, Malekhosseini SA, Behmanesh , Sanati MH, Afshari A, Moravej A, Karimi MH

BACKGROUND: Single nucleotide polymorphisms (SNPs) can modulate various biological processes by influencing microRNA (miRNA) biogenesis and altering target selection. Common SNPs may alter the processing of miRNA and may be...
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Single nucleotide polymorphism of GSTP1 and pathological complete response in locally advanced rectal cancer patients treated with neoadjuvant concomitant radiochemotherapy

Nicosia L, Gentile G, Reverberi , Minniti G, Valeriani , de Sanctis V, Marinelli , Cipolla F, de Luca O, Simmaco M, Osti MF

PURPOSE: Standard treatment for locally advanced rectal cancer consists of neoadjuvant radiochemotherapy with concomitant fluoropyrimidine or oxaliplatin and surgery with curative intent. Pathological complete response has shown to be predictive...
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Polymorphism Located in the Upstream Region of the RPS19 Gene (rs2305809) Is Associated With Cervical Cancer: A Case-control Study

da Rocha Boeira T, Coser J, Wolf JM, Cardinal B, Grivicich , Simon D, Lunge VR

Cervical cancer (CC) is caused by persistent human papillomavirus (HPV) infection and affects women worldwide. The progression of an HPV persistent infection to CC is influenced by genetic factors. Three...
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The Prevalence of CYP2B6 Gene Polymorphisms in Malaria-endemic Population of Timor in East Nusa Tenggara Indonesia

Hananta L, Astuti I, Sadewa AH, Alice J, Hutagalung J, Mustofa

OBJECTIVES: The CYP2B6 is one of the most polymorphic CYP genes in humans that has the potential to modify the pharmacological and toxicological responses to clinically important drugs such as...
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Association of Genetic Polymorphisms with Atopic Dermatitis, Clinical Severity and Total IgE: A Replication and Extended Study

Kim JH, Lee SY, Kang MJ, Yoon J, Jung S, Cho HJ, Kim HB, Hong SJ

PURPOSE: Atopic dermatitis (AD) is a common and chronic inflammatory skin disease affecting up to 20% of children and 3% of adults worldwide. Although previous reports including genome-wide association study...
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