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Genetic epidemiology and genetic associations

Section edited by Dan Rujescu and Danish Saleheen

This section considers studies of the statistical associations between genetic factors and disease states in families and populations, and the contribution of genetic factors to disease risk.

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  1. Age-related macular degeneration (AMD) is a common disease of the elderly that leads to loss of the central visual field due to atrophic or neovascular events. Evidence from human eyes and animal models sugges...

    Authors: Robert F Mullins, Jessica M Skeie, James C Folk, Frances M Solivan-Timpe, Thomas A Oetting, Jian Huang, Kai Wang, Edwin M Stone and John H Fingert

    Citation: BMC Medical Genetics 2011 12:58

    Content type: Research article

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  2. Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID...

    Authors: Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent and Muhammad Ansar

    Citation: BMC Medical Genetics 2011 12:56

    Content type: Research article

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  3. Obesity has been shown to increase breast cancer risk. FTO is a novel gene which has been identified through genome wide association studies (GWAS) to be related to obesity. Our objective was to evaluate tissue e...

    Authors: Virginia Kaklamani, Nengjun Yi, Maureen Sadim, Kalliopi Siziopikou, Kui Zhang, Yanfei Xu, Sarah Tofilon, Surbhi Agarwal, Boris Pasche and Christos Mantzoros

    Citation: BMC Medical Genetics 2011 12:52

    Content type: Research article

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  4. The kynurenine (KYN) pathway has been shown to be altered in several diseases which compromise the central nervous system (CNS) including infectious diseases such as bacterial meningitis (BM). The aim of this ...

    Authors: Fladjule Rejane Soares de Souza, Fabrícia Lima Fontes, Thayse Azevedo da Silva, Leonam Gomes Coutinho, Stephen L Leib and Lucymara Fassarella Agnez-Lima

    Citation: BMC Medical Genetics 2011 12:51

    Content type: Research article

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  5. There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion ...

    Authors: Vanesa Álvarez-Iglesias, Ana Mosquera-Miguel, Ivón Cuscó, Ángel Carracedo, Luis Alberto Pérez-Jurado and Antonio Salas

    Citation: BMC Medical Genetics 2011 12:50

    Content type: Research article

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  6. BCL-2 (B-cell leukemia/lymphoma 2) gene has been demonstrated to be associated with breast cancer development and a single nucleotide polymorphism (SNP; -938C > A) has been identified recently. To investigate wh...

    Authors: Ning Zhang, Xiaoyan Li, Kai Tao, Liyu Jiang, Tingting Ma, Shi Yan, Cunzhong Yuan, Meena S Moran, Faming Liang, Bruce G Haffty and Qifeng Yang

    Citation: BMC Medical Genetics 2011 12:48

    Content type: Research article

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  7. It has been suggested that pituitary adenoma results from accumulation of multiple genetic and/or epigenetic aberrations, which may be identified through association studies. As pituitary tumor transforming ge...

    Authors: Shuai Chen, Lan Xiao, Zhixiong Liu, Jinfang Liu and Yunsheng Liu

    Citation: BMC Medical Genetics 2011 12:44

    Content type: Research article

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  8. The prevalence and incidence of dementia are low in Nigeria, but high among African-Americans. In these populations there is a high frequency of the risk-conferring APOE-e4 allele, but the risk ratio is less t...

    Authors: Beatriz Marcheco Teruel, Juan J Llibre Rodríguez, Paul McKeigue, Teresa Collazo Mesa T, Evelyn Fuentes, Adolfo Valhuerdi Cepero A, Milagros A Guerra Hernandez, John RM Copeland JRM, Cleusa P Ferri and Martin J Prince

    Citation: BMC Medical Genetics 2011 12:43

    Content type: Research article

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  9. The protein tyrosine phosphatase nonreceptor type 2 (PTPN22) has been established as a type 1 diabetes susceptibility gene. A recent study found the C1858T variant of this gene to be associated with lower residua...

    Authors: Lotte B Nielsen, Sven Pörksen, Marie Louise M Andersen, Siri Fredheim, Jannet Svensson, Philip Hougaard, Maurizio Vanelli, Jan Åman, Henrik B Mortensen and Lars Hansen

    Citation: BMC Medical Genetics 2011 12:41

    Content type: Research article

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  10. Uteroglobin-Related Protein 1 (UGRP1) is a secretoglobulin protein which has been suggested to play a role in lung inflammation and allergic diseases. UGRP1 has also been shown to be an important pneumoprotein, w...

    Authors: Anand Kumar Andiappan, Wei Sheng Yeo, Pallavi Nilkanth Parate, Ramani Anantharaman, Bani Kaur Suri, De Yun Wang and Fook Tim Chew

    Citation: BMC Medical Genetics 2011 12:39

    Content type: Research article

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  11. Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplicat...

    Authors: Francesca Magri, Roberto Del Bo, Maria G D'Angelo, Alessandra Govoni, Serena Ghezzi, Sandra Gandossini, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni, Silvana Tedeschi, Francesco Fortunato, Valeria Lucchini, Matteo Cereda, Stefania Corti, Maurizio Moggio, Nereo Bresolin…

    Citation: BMC Medical Genetics 2011 12:37

    Content type: Research article

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  12. Recent investigations demonstrated many genetic contributions to the development of human age-related hearing impairment (ARHI), however, reports of factors associated with a reduction in the ARHI risk are rar...

    Authors: Yasue Uchida, Saiko Sugiura, Fujiko Ando, Tsutomu Nakashima and Hiroshi Shimokata

    Citation: BMC Medical Genetics 2011 12:35

    Content type: Research article

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  13. Although SLC22A12 258X allele was found among those with hypouricemia, it was unknown that serum uric acid distribution among those with SLC22A12 258X allele. This study examined serum uric acid (SUA) distributio...

    Authors: Nobuyuki Hamajima, Mariko Naito, Asahi Hishida, Rieko Okada, Yatami Asai and Kenji Wakai

    Citation: BMC Medical Genetics 2011 12:33

    Content type: Research article

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  14. Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR. This stu...

    Authors: Jinfa Tou, Li Wang, Li Liu, Ying Wang, Rong Zhong, Shengyu Duan, Weiguang Liu, Qixing Xiong, Qinglong Gu, Hong Yang and Hui Li

    Citation: BMC Medical Genetics 2011 12:32

    Content type: Research article

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  15. Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutation...

    Authors: Mustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, Ibrahim A Alorainy, Lu Liu, John A McGrath, Lionel Van Maldergem, Yasser H Al-Faky, Adel H AlSuhaibani, Darren T Oystreck and Thomas M Bosley

    Citation: BMC Medical Genetics 2011 12:31

    Content type: Research article

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  16. Variants in the TCF7L2 have been shown to be associated with an increased risk for type 2 diabetes (T2D). Since the association with diabetes could be explained by effects on insulin secretion, we investigated wh...

    Authors: Andreas Holstein, Michael Hahn, Antje Körner, Michael Stumvoll and Peter Kovacs

    Citation: BMC Medical Genetics 2011 12:30

    Content type: Research article

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  17. This study was designed to investigate an association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and the risk of lung cancer in a Korean population.

    Authors: Lian-Hua Cui, Min-Ho Shin, Hee Nam Kim, Hye-Rim Song, Jin-Mei Piao, Sun-Seog Kweon, Jin-Su Choi, Woo-Jun Yun, Young-Chul Kim, In-Jae Oh and Kyu-Sik Kim

    Citation: BMC Medical Genetics 2011 12:28

    Content type: Research article

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  18. Prior studies suggest a role for a variant (rs5743836) in the promoter of toll-like receptor 9 (TLR9) in asthma and other inflammatory diseases. We performed detailed genetic association studies of the functio...

    Authors: Nancy E Lange, Xiaobo Zhou, Jessica Lasky-Su, Blanca E Himes, Ross Lazarus, Manuel Soto-Quirós, Lydiana Avila, Juan C Celedón, Catherine M Hawrylowicz, Benjamin A Raby and Augusto A Litonjua

    Citation: BMC Medical Genetics 2011 12:26

    Content type: Research article

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  19. Asthma and allergy represent complex phenotypes, which disproportionately burden ethnic minorities in the United States. Strong evidence for genomic factors predisposing subjects to asthma/allergy is available...

    Authors: Bonnie R Joubert, David M Reif, Stephen W Edwards, Kevin A Leiner, Edward E Hudgens, Peter Egeghy, Jane E Gallagher and Elaine Cohen Hubal

    Citation: BMC Medical Genetics 2011 12:25

    Content type: Research article

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  20. Common single-nucleotide polymorphisms (SNPs) in ten chromosomal loci have been shown to predispose to colorectal cancer (CRC) in genome-wide association studies. A plausible biological mechanism of CRC suscep...

    Authors: Iina Niittymäki, Sari Tuupanen, Yilong Li, Heikki Järvinen, Jukka-Pekka Mecklin, Ian PM Tomlinson, Richard S Houlston, Auli Karhu and Lauri A Aaltonen

    Citation: BMC Medical Genetics 2011 12:23

    Content type: Research article

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  21. Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and...

    Authors: Jens K Hertel, Stefan Johansson, Helge Ræder, Carl GP Platou, Kristian Midthjell, Kristian Hveem, Anders Molven and Pål R Njølstad

    Citation: BMC Medical Genetics 2011 12:20

    Content type: Research article

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  22. Polymorphisms in intron 15 of potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) gene have been associated with type II diabetes (T2D) in Japanese genome-wide association studies (GWAS). More re...

    Authors: Latonya F Been, Sarju Ralhan, Gurpreet S Wander, Narinder K Mehra, JaiRup Singh, John J Mulvihill, Christopher E Aston and Dharambir K Sanghera

    Citation: BMC Medical Genetics 2011 12:18

    Content type: Research article

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  23. Intellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a subgroup of patients, the endogenous melatonin level m...

    Authors: Cecile Pagan, Hany Goubran Botros, Karine Poirier, Anne Dumaine, Stéphane Jamain, Sarah Moreno, Arjan de Brouwer, Hilde Van Esch, Richard Delorme, Jean-Marie Launay, Andreas Tzschach, Vera Kalscheuer, Didier Lacombe, Sylvain Briault, Frédéric Laumonnier, Martine Raynaud…

    Citation: BMC Medical Genetics 2011 12:17

    Content type: Research article

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  24. Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS pati...

    Authors: Adela Castillejo, Carla Guarinos, Ana Martinez-Canto, Victor-Manuel Barbera, Cecilia Egoavil, Maria-Isabel Castillejo, Lucia Perez-Carbonell, Ana-Beatriz Sanchez-Heras, Angel Segura, Enrique Ochoa, Rafael Lazaro, Clara Ruiz-Ponte, Luis Bujanda, Montserrat Andreu, Antoni Castells, Angel Carracedo…

    Citation: BMC Medical Genetics 2011 12:12

    Content type: Research article

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  25. The thrifty gene hypothesis posits that, in populations that experienced periods of feast and famine, natural selection favoured individuals carrying thrifty alleles that promote the storage of fat and energy....

    Authors: Sean Myles, Rod A Lea, Jun Ohashi, Geoff K Chambers, Joerg G Weiss, Emilie Hardouin, Johannes Engelken, Donia P Macartney-Coxson, David A Eccles, Izumi Naka, Ryosuke Kimura, Tsukasa Inaoka, Yasuhiro Matsumura and Mark Stoneking

    Citation: BMC Medical Genetics 2011 12:10

    Content type: Research article

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  26. The BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian...

    Authors: Vida Stegel, Mateja Krajc, Janez Žgajnar, Erik Teugels, Jacques De Grève, Marko Hočevar and Srdjan Novaković

    Citation: BMC Medical Genetics 2011 12:9

    Content type: Research article

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  27. Qualitative and quantitative changes in human mitochondrial DNA (mtDNA) have been implicated in various cancer types. A 4,977 bp deletion in the major arch of the mitochondrial genome is one of the most common...

    Authors: Tao Chen, Jing He, Lijun Shen, Hezhi Fang, Hezhongrong Nie, Tao Jin, Xiaosong Wei, Yijuan Xin, Yulin Jiang, Hongzhi Li, Guorong Chen, Jianxin Lu and Yidong Bai

    Citation: BMC Medical Genetics 2011 12:8

    Content type: Research article

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  28. Low serum paraoxonase (PON) activity is associated with the risk of coronary artery disease, diabetes and systemic lupus erythematosus (SLE). Our prior studies have shown that the PON1/rs662 (p.Gln192Arg), PON1/r...

    Authors: Sudeshna Dasgupta, F Yesim Demirci, Amy S Dressen, Amy H Kao, Elisa Y Rhew, Rosalind Ramsey-Goldman, Susan Manzi, Candace M Kammerer and M Ilyas Kamboh

    Citation: BMC Medical Genetics 2011 12:7

    Content type: Research article

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  29. Genome-wide linkage studies in multiple ethnic populations found chromosome 1q21-q25 was the strongest and most replicable linkage signal in the human chromosome. Studies in Pima Indian, Caucasians and African...

    Authors: Cheng Hu, Rong Zhang, Congrong Wang, Xiaojing Ma, Jie Wang, Yuqian Bao, Kunsan Xiang and Weiping Jia

    Citation: BMC Medical Genetics 2011 12:3

    Content type: Research article

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  30. In a recent report of large-scale association analysis, a type 2 diabetes susceptibility locus near HNF1A was identified in predominantly European descent populations. A population-specific G319S polymorphism in

    Authors: Sylvia H Ley, Robert A Hegele, Stewart B Harris, Mary Mamakeesick, Henian Cao, Philip W Connelly, Joel Gittelsohn, Ravi Retnakaran, Bernard Zinman and Anthony J Hanley

    Citation: BMC Medical Genetics 2011 12:1

    Content type: Research article

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  31. In a genome-wide association scan, the single-nucleotide polymorphism (SNP) rs738409 in the patatin-like phospholipase 3 gene (PNPLA3) was strongly associated with increased liver fat content. We investigated whe...

    Authors: Kikuko Hotta, Masato Yoneda, Hideyuki Hyogo, Hidenori Ochi, Seiho Mizusawa, Takato Ueno, Kazuaki Chayama, Atsushi Nakajima, Kazuwa Nakao and Akihiro Sekine

    Citation: BMC Medical Genetics 2010 11:172

    Content type: Research article

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  32. SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-respons...

    Authors: Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji and Nobuaki Wakamatsu

    Citation: BMC Medical Genetics 2010 11:171

    Content type: Research article

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  33. Toll like receptors (TLRs) signaling pathways, including the adaptor protein Mal encoded by the TIRAP gene, play a central role in the development of acute lung injury (ALI). Recently, the TIRAP variants have bee...

    Authors: Zhenju Song, Chaoyang Tong, Zhan Sun, Yao Shen, Chenling Yao, Jinjun Jiang, Jun Yin, Lei Gao, Yuanlin Song and Chunxue Bai

    Citation: BMC Medical Genetics 2010 11:168

    Content type: Research article

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  34. Obesity has a strong genetic influence, with some variants showing stronger associations among women than men. Women are also more likely to distribute weight in the abdomen following menopause. We investigate...

    Authors: Linda E Kelemen, Elizabeth J Atkinson, Mariza de Andrade, V Shane Pankratz, Julie M Cunningham, Alice Wang, Christopher A Hilker, Fergus J Couch, Thomas A Sellers and Celine M Vachon

    Citation: BMC Medical Genetics 2010 11:156

    Content type: Research article

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