SHBG c.112-17T>C

Variant ID: 17-7533717-T-C

NM_001040.3(SHBG):c.112-17T>C

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs6257
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs6257
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Pathophysiological Role of Genetic Factors Associated With Gestational Diabetes Mellitus.

Frontiers In Physiology
Ortega-Contreras, B B; Armella, A A; Appel, J J; Mennickent, D D; Araya, J J; González, M M; Castro, E E; Obregón, A M AM; Lamperti, L L; Gutiérrez, J J; Guzmán-Gutiérrez, E E
Publication Date: 2022

Variant appearance in text: rs6257
PubMed Link: 35450164
Variant Present in the following documents:
  • Main text
  • fphys-13-769924.pdf
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Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population.

Human Genomics
Akhlaghipour, Iman I; Bina, Amir Reza AR; Mogharrabi, Mohammad Reza MR; Fanoodi, Ali A; Ebrahimian, Amir Reza AR; Khojasteh Kaffash, Soroush S; Babazadeh Baghan, Atefeh A; Khorashadizadeh, Mohammad Erfan ME; Taghehchian, Negin N; Moghbeli, Meysam M
Publication Date: 2022-04-02

Variant appearance in text: rs6257
PubMed Link: 35366956
Variant Present in the following documents:
  • Main text
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Associations of Sex Hormone-binding Globulin with Bone Mineral Density Among US Adults, NHANES 2013-2016.

International Journal Of General Medicine
Yang, Fan F; Yang, Dawei D; Zhou, Yinan Y; Wu, Jianjun J
Publication Date: 2021

Variant appearance in text: rs6257
PubMed Link: 34764684
Variant Present in the following documents:
  • Main text
  • ijgm-14-7707.pdf
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The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis.

Journal Of Ovarian Research
Chaudhary, Hiral H; Patel, Jalpa J; Jain, Nayan K NK; Joshi, Rushikesh R
Publication Date: 2021-09-26

Variant appearance in text: rs6257
PubMed Link: 34563259
Variant Present in the following documents:
  • Main text
  • 13048_2021_Article_879.pdf
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Classic and Novel Sex Hormone Binding Globulin Effects on the Cardiovascular System in Men.

International Journal Of Endocrinology
Basualto-Alarcón, Carla C; Llanos, Paola P; García-Rivas, Gerardo G; Troncoso, Mayarling Francisca MF; Lagos, Daniel D; Barrientos, Genaro G; Estrada, Manuel M
Publication Date: 2021

Variant appearance in text: rs6257
PubMed Link: 34335746
Variant Present in the following documents:
  • Main text
  • IJE2021-5527973.pdf
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Association between sex hormone binding globulin gene polymorphism and type 2 diabetes mellitus.

International Journal Of Clinical And Experimental Pathology
Quan, Li L; Wang, Liang L; Wang, Jing J; Yuwen, Binya B; Zhu, Jun J
Publication Date: 2019

Variant appearance in text: rs6257
PubMed Link: 31934198
Variant Present in the following documents:
  • Main text
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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs6257
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
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The association between sex hormone-binding globulin and type 2 diabetes in Nigerian men.

African Journal Of Laboratory Medicine
Abbiyesuku, Fayefori M FM; Agbakwuru, Augustine N AN; Olawale, Olatunbosun O OO
Publication Date: 2013

Variant appearance in text: rs6257
PubMed Link: 29043159
Variant Present in the following documents:
  • Main text
  • AJLM-2-44.pdf
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A Reappraisal of Testosterone's Binding in Circulation: Physiological and Clinical Implications.

Endocrine Reviews
Goldman, Anna L AL; Bhasin, Shalender S; Wu, Frederick C W FCW; Krishna, Meenakshi M; Matsumoto, Alvin M AM; Jasuja, Ravi R
Publication Date: 2017-08-01

Variant appearance in text: rs6257
PubMed Link: 28673039
Variant Present in the following documents:
  • Main text
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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs6257
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
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Low Sex Hormone-Binding Globulin Levels Associate with Prediabetes in Chinese Men Independent of Total Testosterone.

Plos One
Zhu, Hui H; Wang, Ningjian N; Han, Bing B; Li, Qin Q; Chen, Yi Y; Zhu, Chunfang C; Chen, Yingchao Y; Xia, Fangzhen F; Cang, Zhen Z; Lu, Meng M; Chen, Chi C; Lin, Dongping D; Lu, Yingli Y
Publication Date: 2016

Variant appearance in text: rs6257
PubMed Link: 27583401
Variant Present in the following documents:
  • Main text
  • pone.0162004.pdf
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Sex Hormone-Binding Globulin in Children and Adolescents.

Journal Of Clinical Research In Pediatric Endocrinology
Aydın, Banu B; Winters, Stephen J SJ
Publication Date: 2016-03-05

Variant appearance in text: rs6257
PubMed Link: 26761949
Variant Present in the following documents:
  • Main text
  • JCRPE-8-1.pdf
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Study of Sex Hormone-binding Globulin Gene Polymorphism and Risk of Type 2 Diabetes Mellitus in Egyptian Men.

The West Indian Medical Journal
El Tarhouny, S A SA; Zakaria, S S SS; Abdu-Allah, A M AM; Hadhoud, K M KM; Mahmoud, M I MI; Al Nozha, O M OM
Publication Date: 2015-09

Variant appearance in text: rs6257
PubMed Link: 26624584
Variant Present in the following documents:
  • Main text
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Steroid Sex Hormones, Sex Hormone-Binding Globulin, and Diabetes Incidence in the Diabetes Prevention Program.

The Journal Of Clinical Endocrinology And Metabolism
Mather, K J KJ; Kim, C C; Christophi, C A CA; Aroda, V R VR; Knowler, W C WC; Edelstein, S E SE; Florez, J C JC; Labrie, F F; Kahn, S E SE; Goldberg, R B RB; Barrett-Connor, E E; ,
Publication Date: 2015-10

Variant appearance in text: rs6257
PubMed Link: 26200237
Variant Present in the following documents:
  • Main text
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SHBG gene polymorphism (rs1799941) associates with metabolic syndrome in children and adolescents.

Plos One
White, Marquitta J MJ; Eren, Fatih F; Agirbasli, Deniz D; Williams, Scott M SM; Agirbasli, Mehmet M
Publication Date: 2015

Variant appearance in text: rs6257
PubMed Link: 25647406
Variant Present in the following documents:
  • Main text
  • pone.0116915.pdf
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Naturally occurring mutants inform SHBG structure and function.

Molecular Endocrinology (Baltimore, Md.)
Wu, Tsung-Sheng TS; Hammond, Geoffrey L GL
Publication Date: 2014-07

Variant appearance in text: rs6257
PubMed Link: 24892637
Variant Present in the following documents:
  • Main text
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Comments on 'low serum sex hormone binding globulin is associated with nonalcoholic fatty liver disease in type 2 diabetic patients'.

Clinical Endocrinology
Wang, Christina C; Swerdloff, Ronald S RS
Publication Date: 2014-06

Variant appearance in text: rs6257
PubMed Link: 24533679
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms potentially associated with response to metformin in postmenopausal diabetics suffering and not suffering with cancer.

Cell Cycle (Georgetown, Tex.)
Berstein, Lev M LM; Iyevleva, Aglaya G AG; Vasilyev, Dmitry D; Poroshina, Tatyana E TE; Imyanitov, Evgeny N EN
Publication Date: 2013-12-01

Variant appearance in text: rs6257
PubMed Link: 24145224
Variant Present in the following documents:
  • Main text
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Multi-locus candidate gene analyses of lipid levels in a pediatric Turkish cohort: lessons learned on LPL, CETP, LIPC, ABCA1, and SHBG.

Omics : A Journal Of Integrative Biology
Agirbasli, Mehmet M; Eren, Fatih F; Agirbasli, Deniz D; White, Marquitta J MJ; Williams, Scott M SM
Publication Date: 2013-12

Variant appearance in text: rs6257
PubMed Link: 23988150
Variant Present in the following documents:
  • Main text
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The relationship between sex hormones, sex hormone binding globulin and peripheral artery disease in older persons.

Atherosclerosis
Maggio, M M; Cattabiani, C C; Lauretani, F F; Artoni, A A; Bandinelli, S S; Schiavi, G G; Vignali, A A; Volpi, R R; Ceresini, G G; Lippi, G G; Aloe, R R; De Vita, F F; Giallauria, F F; McDermott, M M MM; Ferrucci, L L; Ceda, G P GP
Publication Date: 2012-12

Variant appearance in text: rs6257
PubMed Link: 23102785
Variant Present in the following documents:
  • Main text
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Sex hormone-binding globulin and type 2 diabetes mellitus.

Trends In Endocrinology And Metabolism: Tem
Le, Trang N TN; Nestler, John E JE; Strauss, Jerome F JF; Wickham, Edmond P EP
Publication Date: 2012-01

Variant appearance in text: rs6257
PubMed Link: 22047952
Variant Present in the following documents:
  • Main text
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Sex hormones, insulin resistance, and diabetes mellitus among men with or at risk for HIV infection.

Journal Of Acquired Immune Deficiency Syndromes (1999)
Monroe, Anne K AK; Dobs, Adrian S AS; Xu, Xiaoqiang X; Palella, Frank J FJ; Kingsley, Lawrence A LA; Witt, Mallory D MD; Brown, Todd T TT
Publication Date: 2011-10-01

Variant appearance in text: rs6257
PubMed Link: 21705912
Variant Present in the following documents:
  • Main text
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Polymorphisms in the SHBG gene influence serum SHBG levels in women with polycystic ovary syndrome.

The Journal Of Clinical Endocrinology And Metabolism
Wickham, Edmond P EP; Ewens, Kathryn G KG; Legro, Richard S RS; Dunaif, Andrea A; Nestler, John E JE; Strauss, Jerome F JF
Publication Date: 2011-04

Variant appearance in text: rs6257
PubMed Link: 21252242
Variant Present in the following documents:
  • Main text
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Sex hormone-binding globulin genetic variation: associations with type 2 diabetes mellitus and polycystic ovary syndrome.

Minerva Endocrinologica
Chen, C C; Smothers, J J; Lange, A A; Nestler, J E JE; Strauss Iii, J F JF; Wickham Iii, E P EP
Publication Date: 2010-12

Variant appearance in text: rs6257
PubMed Link: 21178921
Variant Present in the following documents:
  • Main text
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Coffee and caffeine consumption in relation to sex hormone-binding globulin and risk of type 2 diabetes in postmenopausal women.

Diabetes
Goto, Atsushi A; Song, Yiqing Y; Chen, Brian H BH; Manson, JoAnn E JE; Buring, Julie E JE; Liu, Simin S
Publication Date: 2011-01

Variant appearance in text: rs6257
PubMed Link: 21030499
Variant Present in the following documents:
  • Main text
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Usefulness of Mendelian randomization in observational epidemiology.

International Journal Of Environmental Research And Public Health
Bochud, Murielle M; Rousson, Valentin V
Publication Date: 2010-03

Variant appearance in text: rs6257
PubMed Link: 20616999
Variant Present in the following documents:
  • ijerph-07-00711.pdf
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Association of testosterone and sex hormone-binding globulin with metabolic syndrome and insulin resistance in men.

Diabetes Care
Li, Chaoyang C; Ford, Earl S ES; Li, Benyi B; Giles, Wayne H WH; Liu, Simin S
Publication Date: 2010-07

Variant appearance in text: rs6257
PubMed Link: 20368409
Variant Present in the following documents:
  • Main text
  • zdc1618.pdf
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Sex hormone-binding globulin as an independent predictor of incident type 2 diabetes mellitus in men.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Lakshman, Kishore M KM; Bhasin, Shalender S; Araujo, Andre B AB
Publication Date: 2010-05

Variant appearance in text: rs6257
PubMed Link: 20106959
Variant Present in the following documents:
  • Main text
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Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

Human Molecular Genetics
Perry, John R B JR; Weedon, Michael N MN; Langenberg, Claudia C; Jackson, Anne U AU; Lyssenko, Valeriya V; Sparsø, Thomas T; Thorleifsson, Gudmar G; Grallert, Harald H; Ferrucci, Luigi L; Maggio, Marcello M; Paolisso, Giuseppe G; Walker, Mark M; Palmer, Colin N A CN; Payne, Felicity F; Young, Elizabeth E; Herder, Christian C; Narisu, Narisu N; Morken, Mario A MA; Bonnycastle, Lori L LL; Owen, Katharine R KR; Shields, Beverley B; Knight, Beatrice B; Bennett, Amanda A; Groves, Christopher J CJ; Ruokonen, Aimo A; Jarvelin, Marjo Riitta MR; Pearson, Ewan E; Pascoe, Laura L; Ferrannini, Ele E; Bornstein, Stefan R SR; Stringham, Heather M HM; Scott, Laura J LJ; Kuusisto, Johanna J; Nilsson, Peter P; Neptin, Malin M; Gjesing, Anette P AP; Pisinger, Charlotta C; Lauritzen, Torsten T; Sandbaek, Annelli A; Sampson, Mike M; , ; Zeggini, Ele E; Lindgren, Cecilia M CM; Steinthorsdottir, Valgerdur V; Thorsteinsdottir, Unnur U; Hansen, Torben T; Schwarz, Peter P; Illig, Thomas T; Laakso, Markku M; Stefansson, Kari K; Morris, Andrew D AD; Groop, Leif L; Pedersen, Oluf O; Boehnke, Michael M; Barroso, Inês I; Wareham, Nicholas J NJ; Hattersley, Andrew T AT; McCarthy, Mark I MI; Frayling, Timothy M TM
Publication Date: 2010-02-01

Variant appearance in text: rs6257
PubMed Link: 19933169
Variant Present in the following documents:
  • Main text
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Sex hormone-binding globulin and risk of type 2 diabetes in women and men.

The New England Journal Of Medicine
Ding, Eric L EL; Song, Yiqing Y; Manson, JoAnn E JE; Hunter, David J DJ; Lee, Cathy C CC; Rifai, Nader N; Buring, Julie E JE; Gaziano, J Michael JM; Liu, Simin S
Publication Date: 2009-09-17

Variant appearance in text: rs6257
PubMed Link: 19657112
Variant Present in the following documents:
  • Main text
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Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).

Human Molecular Genetics
Ahn, Jiyoung J; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Pfeiffer, Ruth R; Albanes, Demetrius D; Andriole, Gerald L GL; Ardanaz, Eva E; Boeing, Heiner H; Bueno-de-Mesquita, Bas B; Chanock, Stephen J SJ; Clavel-Chapelon, Françoise F; Diver, W Ryan WR; Feigelson, Heather Spencer HS; Gaziano, J Michael JM; Giovannucci, Edward E; Haiman, Christopher A CA; Henderson, Brian E BE; Hoover, Robert N RN; Kolonel, Laurence N LN; Kraft, Peter P; Ma, Jing J; Le Marchand, Loïc L; Overvad, Kim K; Palli, Domenico D; Stattin, Pär P; Stampfer, Meir M; Stram, Daniel O DO; Thomas, Gilles G; Thun, Michael J MJ; Travis, Ruth C RC; Trichopoulos, Dimitrios D; Virtamo, Jarmo J; Weinstein, Stephanie J SJ; Yeager, Meredith M; Kaaks, Rudolf R; Hunter, David J DJ; Hayes, Richard B RB
Publication Date: 2009-10-01

Variant appearance in text: rs6257
PubMed Link: 19574343
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women.

Bmc Medical Genetics
Riancho, José A JA; Valero, Carmen C; Zarrabeitia, María T MT; García-Unzueta, María T MT; Amado, José A JA; González-Macías, Jesús J
Publication Date: 2008-12-17

Variant appearance in text: rs6257
PubMed Link: 19091090
Variant Present in the following documents:
  • Main text
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Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study.

Bmc Cancer
Garcia-Closas, Montserrat M; Brinton, Louise A LA; Lissowska, Jolanta J; Richesson, Douglas D; Sherman, Mark E ME; Szeszenia-Dabrowska, Neonila N; Peplonska, Beata B; Welch, Robert R; Yeager, Meredith M; Zatonski, Witold W; Chanock, Stephen J SJ
Publication Date: 2007-04-05

Variant appearance in text: rs6257
PubMed Link: 17411440
Variant Present in the following documents:
  • Main text
  • 1471-2407-7-60.pdf
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