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Genetic epidemiology and genetic associations

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. Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders,...

    Authors: Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Prott, Sigrid Tinschert, Reinhard Ullmann…
    Citation: BMC Medical Genetics 2011 12:106
    Content type: Research article Published on:

  2. To date, nine Parkinson disease (PD) genome-wide association studies in North American, European and Asian populations have been published. The majority of studies have confirmed the association of the previou...

    Authors: Xinmin Liu, Rong Cheng, Miguel Verbitsky, Sergey Kisselev, Andrew Browne, Helen Mejia-Sanatana, Elan D Louis, Lucien J Cote, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Karen Marder, Lorraine N Clark and Joseph H Lee
    Citation: BMC Medical Genetics 2011 12:104
    Content type: Research article Published on:

  3. Asthma is a genetically heterogeneous disease. Polymorphisms of genes encoding components of the vitamin D pathway have been reported to associate with the risk of asthma. We have previously demonstrated that ...

    Authors: Fei Li, Lei Jiang, Saffron A Willis-Owen, Youming Zhang and Jinming Gao
    Citation: BMC Medical Genetics 2011 12:103
    Content type: Research article Published on:

  4. Bardet-Biedl syndrome (BBS) is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and beha...

    Authors: Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos and Leslie G Biesecker
    Citation: BMC Medical Genetics 2011 12:101
    Content type: Research article Published on:

  5. Left ventricular mass (LVM) is an important risk factor for cardiovascular disease. Previously we found evidence for linkage to chromosome 12p11 in Dominican families, with a significant increase in a subset o...

    Authors: David Della-Morte, Ashley Beecham, Tatjana Rundek, Liyong Wang, Mark S McClendon, Susan Slifer, Susan H Blanton, Marco R Di Tullio and Ralph L Sacco
    Citation: BMC Medical Genetics 2011 12:100
    Content type: Research article Published on:

  6. Single nucleotide polymorphisms (SNPs) within the gene encoding Hexokinase 1 (HK1) are associated with changes in glycated haemoglobin (HbA1c) levels. Our aim was to investigate the effect of HK1 rs7072268 on mea...

    Authors: Anette P Gjesing, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Anneli Sandbæk, Torben Jørgensen, Daniel Witte, Amélie Bonnefond, Phillippe Froguel, Torben Hansen and Oluf Pedersen
    Citation: BMC Medical Genetics 2011 12:99
    Content type: Research article Published on:

  8. An Nrf2-dependent response is a central protective mechanism against oxidative stress. We propose that particular genetic variants of the Nrf2 gene may be associated with a rapid forced expiratory volume in one s...

    Authors: Hironori Masuko, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Emiko Noguchi, Tomomitsu Hirota, Mayumi Tamari and Nobuyuki Hizawa
    Citation: BMC Medical Genetics 2011 12:97
    Content type: Research article Published on:

  9. Type 2 diabetes mellitus (T2DM) has been linked to a state of pre-clinical chronic inflammation resulting from abnormalities in the innate immune pathway. Serum levels of pro-inflammatory cytokines and acute-p...

    Authors: Paul Arora, Bibiana Garcia-Bailo, Zari Dastani, Darren Brenner, Andre Villegas, Suneil Malik, Timothy D Spector, Brent Richards, Ahmed El-Sohemy, Mohamed Karmali and Alaa Badawi
    Citation: BMC Medical Genetics 2011 12:95
    Content type: Research article Published on:

  10. Decreased expression of adiponectin (ADIPOQ) is associated with an increased risk for developing colorectal cancer (CRC) in humans. This study was designed to determine whether polymorphisms present in the ADIPOQ

    Authors: Bangshun He, Yuqin Pan, Ying Zhang, Qian Bao, Liping Chen, Zhenlin Nie, Ling Gu, Yeqiong Xu and Shukui Wang
    Citation: BMC Medical Genetics 2011 12:94
    Content type: Research article Published on:

  12. Although adolescent idiopathic scoliosis affects approximately 3% of adolescents, the genetic contributions have proven difficult to identify. Work in model organisms, including zebrafish, chickens, and mice, ...

    Authors: Tracy L McGregor, Christina A Gurnett, Matthew B Dobbs, Carol A Wise, Jose A Morcuende, Thomas M Morgan, Ramkumar Menon and Louis J Muglia
    Citation: BMC Medical Genetics 2011 12:92
    Content type: Research article Published on:

  13. Personalized health-care promises tailored health-care solutions to individual patients based on their genetic background and/or environmental exposure history. To date, disease prediction has been based on a ...

    Authors: Mousheng Xu, Kelan G Tantisira, Ann Wu, Augusto A Litonjua, Jen-hwa Chu, Blanca E Himes, Amy Damask and Scott T Weiss
    Citation: BMC Medical Genetics 2011 12:90
    Content type: Research article Published on:

  14. Elevated triglyceride levels are a risk factor for cardiovascular disease. Angiopoietin-like protein 4 (Angptl4) is a metabolic factor that raises plasma triglyceride levels by inhibiting lipoprotein lipase (L...

    Authors: Melissa C Smart-Halajko, Alyson Kelley-Hedgepeth, Maria Claudia Montefusco, Jackie A Cooper, Alan Kopin, Jeanne M McCaffery, Ashok Balasubramanyam, Henry J Pownall, David M Nathan, Inga Peter, Philippa J Talmud and Gordon S Huggins
    Citation: BMC Medical Genetics 2011 12:89
    Content type: Research article Published on:

  15. Although familial clustering of functional dyspepsia (FD) has been reported, the role of genetics in the susceptibility to FD is still not well understood. In the present study, the association between seroton...

    Authors: Fumihiko Toyoshima, Tadayuki Oshima, Shigemi Nakajima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Kazutoshi Hori, Takayuki Matsumoto and Hiroto Miwa
    Citation: BMC Medical Genetics 2011 12:88
    Content type: Research article Published on:

  16. Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.

    Authors: Steven E Boyden, Anna R Duncan, Elicia A Estrella, Hart GW Lidov, Lane J Mahoney, Jonathan S Katz, Louis M Kunkel and Peter B Kang
    Citation: BMC Medical Genetics 2011 12:87
    Content type: Research article Published on:

  17. Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK...

    Authors: Esther Sarasola, Jose A Rodríguez, Elisa Garrote, Javier Arístegui and Maria J García-Barcina
    Citation: BMC Medical Genetics 2011 12:86
    Content type: Case report Published on:

  18. Two SNPs in melatonin receptor 1B gene, rs10830963 and rs1387153 showed significant associations with fasting plasma glucose levels and the risk of Type 2 Diabetes Mellitus (T2DM) in previous studies. Since T2DM ...

    Authors: Jason Y Kim, Hyun Sub Cheong, Byung-Lae Park, Sei Hyun Baik, Sunmin Park, Si Won Lee, Min-Hyoung Kim, Jin Hoon Chung, June Seek Choi, Moon-Young Kim, Jae-Hyug Yang, Dong-Hee Cho, Hyoung Doo Shin and Sung-Hoon Kim
    Citation: BMC Medical Genetics 2011 12:82
    Content type: Research article Published on:

  19. Three IL-10 gene promoter single nucleotide polymorphisms -1082G > A, -819C > T and -592C > A and the haplotypes they define in Caucasians, GCC, ACC, ATA, associated with different IL-10 production rates, have be...

    Authors: Berta Almoguera, Rosa Riveiro-Alvarez, Jorge Lopez-Castroman, Pedro Dorado, Rosario Lopez-Rodriguez, Pablo Fernandez-Navarro, Enrique Baca-García, Jose Fernandez-Piqueras, Rafael Dal-Ré, Francisco Abad-Santos, Adrián LLerena and Carmen Ayuso
    Citation: BMC Medical Genetics 2011 12:81
    Content type: Research article Published on:

  20. CYP2C9 and VKORC1 are two major genetic factors associated with inter-individual variability in warfarin dose. Additionally, genes in the warfarin metabolism pathway have also been associated with dose variance....

    Authors: Ivet M Suriapranata, Wen Ye Tjong, Tingliang Wang, Andi Utama, Sunu B Raharjo, Yoga Yuniadi and Susan SW Tai
    Citation: BMC Medical Genetics 2011 12:80
    Content type: Research article Published on:

  21. Peroxiredoxin 6 (PRDX6) is involved in redox regulation of the cell and is thought to be protective against oxidant injury. Little is known about genetic variation within the PRDX6 gene and its association with a...

    Authors: Melanie Rushefski, Richard Aplenc, Nuala Meyer, Mingyao Li, Rui Feng, Paul N Lanken, Robert Gallop, Scarlett Bellamy, A Russell Localio, Sheldon I Feinstein, Aron B Fisher, Steven M Albelda and Jason D Christie
    Citation: BMC Medical Genetics 2011 12:77
    Content type: Research article Published on:

  22. Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks d...

    Authors: Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, Chih-Ping Chen, Shuan-Pei Lin, Mei-Chyn Chao, Shyh-Shin Chiou and Yi-Ning Su
    Citation: BMC Medical Genetics 2011 12:76
    Content type: Research article Published on:

  23. The MAOA uVNTR polymorphism has been documented to affect the MAOA gene at the transcriptional level and is associated with aggressive impulsive behaviors, depression associated with suicide (depressed suicide...

    Authors: For-Wey Lung, Dong-Sheng Tzeng, Mei-Feng Huang and Ming-Been Lee
    Citation: BMC Medical Genetics 2011 12:74
    Content type: Research article Published on:

  24. Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there ...

    Authors: Pascual Sanchez-Juan, Matthew T Bishop, Esther A Croes, Richard SG Knight, Robert G Will, Cornelia M van Duijn and Jean C Manson
    Citation: BMC Medical Genetics 2011 12:73
    Content type: Research article Published on:

  25. SLC11A1 has pleiotropic effects on macrophage function and remains a strong candidate for infectious disease susceptibility. 5' and/or 3' polymorphisms have been associated with tuberculosis, leprosy, and viscer...

    Authors: Sanjana Mehrotra, Joyce Oommen, Anshuman Mishra, Medhavi Sudharshan, Puja Tiwary, Sarra E Jamieson, Michaela Fakiola, Deepa Selvi Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar and Jenefer M Blackwell
    Citation: BMC Medical Genetics 2011 12:71
    Content type: Research article Published on:

  26. Peroxisome proliferator-activated receptor-γ co-activator (PGC)-1α is a transcriptional co-activator of antioxidant genes and a master regulator of mitochondrial biogenesis. Parkinson's disease (PD) is associa...

    Authors: Joanne Clark, Sonika Reddy, Kangni Zheng, Rebecca A Betensky and David K Simon
    Citation: BMC Medical Genetics 2011 12:69
    Content type: Research article Published on:

  27. Several studies have shown that variants in the glucokinase regulatory protein gene (GCKR) were associated with type 2 diabetes and dyslipidemia. The purpose of this study was to examine whether tag single nucleo...

    Authors: Yan Ling, Xiaomu Li, Qian Gu, Hongyan Chen, Daru Lu and Xin Gao
    Citation: BMC Medical Genetics 2011 12:66
    Content type: Research article Published on:

  28. CRP gene polymorphisms are associated with serum C-reactive protein concentrations and may play a role in chronic kidney disease (CKD) progression. We recently reported an association between the gene variant rs...

    Authors: Adriana M Hung, T Alp Ikizler, Marie R Griffin, Kimberly Glenn, Robert A Greevy, Carlos G Grijalva, Edward D Siew and Dana C Crawford
    Citation: BMC Medical Genetics 2011 12:65
    Content type: Research article Published on:

  29. Preeclampsia affects 3-8% of pregnancies and is a major cause of maternal and perinatal morbidity and mortality worldwide. This complex disorder is characterized by alterations in the immune and vascular syste...

    Authors: Lori D Hill, DaShaunda D Hilliard, Timothy P York, Sindhu Srinivas, Juan P Kusanovic, Ricardo Gomez, Michal A Elovitz, Roberto Romero and Jerome F Strauss III
    Citation: BMC Medical Genetics 2011 12:64
    Content type: Research article Published on:

  30. Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility va...

    Authors: Inga Peter, Adele A Mitchell, Laurie Ozelius, Monica Erazo, Jianzhong Hu, Dana Doheny, Maria T Abreu, Daniel H Present, Thomas Ullman, Keith Benkov, Burton I Korelitz, Lloyd Mayer and Robert J Desnick
    Citation: BMC Medical Genetics 2011 12:63
    Content type: Research article Published on:

  31. F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have inve...

    Authors: Frauke Stanke, Silke Hedtfeld, Tim Becker and Burkhard Tümmler
    Citation: BMC Medical Genetics 2011 12:62
    Content type: Research article Published on:

  32. Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci, includin...

    Authors: Jennie HM Yang, Kate Downes, Joanna MM Howson, Sarah Nutland, Helen E Stevens, Neil M Walker and John A Todd
    Citation: BMC Medical Genetics 2011 12:59
    Content type: Research article Published on:

  33. 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 Published on:

  34. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  48. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:

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