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. Research article

    PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population

    Platelet Endothelial Aggregation Receptor 1 (PEAR1), a membrane protein highly expressed in platelets and endothelial cells, plays a role in platelet contact-induced activation, sustained platelet aggregation ...

    Wen-Yi Yang, Thibault Petit, Nicholas Cauwenberghs, Zhen-Yu Zhang, Chang-Sheng Sheng, Lutgarde Thijs, Erika Salvi, Benedetta Izzi, Christophe Vandenbriele, Fang-Fei Wei, Yu-Mei Gu, Lotte Jacobs, Lorena Citterio, Simona Delli Carpini, Cristina Barlassina, Daniele Cusi…

    BMC Medical Genetics 2017 18:45

    Published on: 27 April 2017

  2. Research article

    SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

    Sirtuin-6 (SIRT6) is involved in various crucial cellular pathways, being a key regulator of telomere structure, DNA repair, metabolism, transcriptional control and the NF-kappa B pathway. Sirt6 knock-out mice ha...

    Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson and Peter Hackman

    BMC Medical Genetics 2017 18:41

    Published on: 11 April 2017

  3. Research article

    Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

    Epidemiological studies have indicated a higher incidence of breast and gastric cancer in patients with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and their relatives, which can be based on...

    Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta and Hercílio Martelli-Júnior

    BMC Medical Genetics 2017 18:39

    Published on: 4 April 2017

  4. Research article

    Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4

    Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the

    Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll and Nikoletta Nagy

    BMC Medical Genetics 2017 18:27

    Published on: 15 March 2017

  5. Research article

    African ancestry is associated with facial melasma in women: a cross-sectional study

    Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, a...

    Maria Paula Barbieri D’Elia, Marcela Calixto Brandão, Bruna Ribeiro de Andrade Ramos, Márcia Guimarães da Silva, Luciane Donida Bartoli Miot, Sidney Emanuel Batista dos Santos and Hélio Amante Miot

    BMC Medical Genetics 2017 18:17

    Published on: 17 February 2017

  6. Research article

    BCL-2 and MYC gain/amplification is correlated with central nervous system involvement in diffuse large B cell lymphoma at leukemic phase

    Diffuse large B-cell lymphoma (DLBCL) of leukemic phase is a rare clinical manifestation, but is highly prevalent with central nervous system involvement (CNSI). Little is known about this rare clinical observ...

    Dehui Zou, Shuhua Yi, Rui Cui, Wei Liu, Chengwen Li, Shizhen Zhong, Zhen Yu, Zengjun Li, Rui Lv, Kun Ru, Huijun Wang, Gang An, Yan Xu and Lugui Qiu

    BMC Medical Genetics 2017 18:16

    Published on: 16 February 2017

  7. Research article

    A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

    Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unn...

    Heidi K. Soini, Antti Väisänen, Mikko Kärppä, Reetta Hinttala, Laura Kytövuori, Jukka S. Moilanen, Johanna Uusimaa and Kari Majamaa

    BMC Medical Genetics 2017 18:14

    Published on: 10 February 2017

  8. Research article

    Microsatellite polymorphisms associated with human behavioural and psychological phenotypes including a gene-environment interaction

    The genetic and environmental influences on human personality and behaviour are a complex matter of ongoing debate. Accumulating evidence indicates that short tandem repeats (STRs) in regulatory regions are go...

    Andrew T. M. Bagshaw, L. John Horwood, David M. Fergusson, Neil J. Gemmell and Martin A. Kennedy

    BMC Medical Genetics 2017 18:12

    Published on: 3 February 2017

  9. Research article

    Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

    The prevalence of atopic dermatitis has increased over the last 10 years. Atopic dermatitis tends to run in families and commonly begins to manifest in childhood. The prevalence of atopic dermatitis is as high...

    Won Il Heo, Kui Young Park, Taewon Jin, Mi-Kyung Lee, MinJeong Kim, Eung Ho Choi, Hae-Suk Kim, Jung Min Bae, Nam Ju Moon and Seong Jun Seo

    BMC Medical Genetics 2017 18:8

    Published on: 26 January 2017

  10. Research article

    Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study

    Reduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in...

    Geetha Chittoor, Karin Haack, Nitesh R. Mehta, Sandra Laston, Shelley A. Cole, Anthony G. Comuzzie, Nancy F. Butte and V. Saroja Voruganti

    BMC Medical Genetics 2017 18:6

    Published on: 17 January 2017

  11. Research article

    Physical activity and sedentary behavior can modulate the effect of the PNPLA3 variant on childhood NAFLD: a case-control study in a Chinese population

    The patatin like phospholipase containing domain 3 gene (PNPLA3) rs738409 C > G polymorphism, one of the most important gene polymorphisms involved in hepatic steatosis, has been reported to interact with differe...

    Shuo Wang, Jieyun Song, Xiaorui Shang, Nitesh Chawla, Yide Yang, Xiangrui Meng, Haijun Wang and Jun Ma

    BMC Medical Genetics 2016 17:90

    Published on: 1 December 2016

  12. Research article

    Effect of Pregnane X Receptor*1B genetic polymorphisms on postoperative analgesia with fentanyl in Chinese patients undergoing gynecological surgery

    The purpose of the study was to investigate the effects of the pregnane X receptor (PXR)*1B polymorphisms on CYP3A4 enzyme activity and postoperative fentanyl consumption in Chinese patients undergoing gynecologi...

    Jing-Jing Yuan, Xiao-Jing Ma, Zhi-Song Li, Yan-Zi Chang, Wei Zhang, Quan-Cheng Kan, Jun-Kai Hou and Li-Rong Zhang

    BMC Medical Genetics 2016 17:87

    Published on: 23 November 2016

  13. Research article

    Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A

    The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high ...

    Murray Cadzow, Tony R. Merriman, James Boocock, Nicola Dalbeth, Lisa K. Stamp, Michael A. Black, Peter M. Visscher and Phillip L. Wilcox

    BMC Medical Genetics 2016 17:80

    Published on: 15 November 2016

  14. Research article

    A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis

    Chronic Fatigue Syndrome, also known as Myalgic Encephalomyelitis (CFS/ME) is a debilitating condition of unknown aetiology. It is characterized by a range of physiological effects including neurological, sens...

    Samantha Johnston, Donald Staines, Anne Klein and Sonya Marshall-Gradisnik

    BMC Medical Genetics 2016 17:79

    Published on: 11 November 2016

  15. Research article

    CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

    Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial.

    Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti and Rosalia D’Angelo

    BMC Medical Genetics 2016 17:74

    Published on: 13 October 2016

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