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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. Infertility affects 15% of human couples, with men being responsible in approximately 50% of cases. Moreover, the aetiology of male factor infertility is poorly understood. The majority of male factor infertil...

    Authors: Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni and Rossana Sapiro

    Citation: BMC Medical Genetics 2017 18:78

    Content type: Research article

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  2. We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

    Authors: Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap and Erlan Ramanculov

    Citation: BMC Medical Genetics 2017 18:76

    Content type: Research article

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  3. Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen amo...

    Authors: Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen and Annika Rydberg

    Citation: BMC Medical Genetics 2017 18:74

    Content type: Research article

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  4. In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...

    Authors: Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri and Riadh Gouider

    Citation: BMC Medical Genetics 2017 18:70

    Content type: Research article

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  5. Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is t...

    Authors: Zhengfu Tai, Lulin Huang, Fang Lu, Yi Shi, Shi Ma, Jing Cheng, He Lin, Xin Liu, Yuanfeng Li and Zhenglin Yang

    Citation: BMC Medical Genetics 2017 18:69

    Content type: Research article

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  6. Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (po...

    Authors: Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang and Tianhua Niu

    Citation: BMC Medical Genetics 2017 18:64

    Content type: Research article

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  7. The etiology of the Graves’ disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two n...

    Authors: Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu and Zhen-ju Song

    Citation: BMC Medical Genetics 2017 18:56

    Content type: Research article

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  8. Selenium is an essential trace and there is a high selenium concentration in the thyroid gland. Selenium deficiency may impair the thyroid function. The aim of this study was to investigate the association bet...

    Authors: Ling Xiao, Jianghong Yuan, Qiuming Yao, Ni Yan, Ronghua Song, Wenjuan Jiang, Danfeng Li, Liangfeng Shi and Jin-an Zhang

    Citation: BMC Medical Genetics 2017 18:54

    Content type: Research article

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  9. The aim of this study was to explore whether interactions between FTO rs9939609 and ABCA1 rs9282541 affect BMI and waist circumference (WC), and could explain previously reported population differences in FTO-obe...

    Authors: Marisela Villalobos-Comparán, Bárbara Antuna-Puente, María Teresa Villarreal-Molina, Samuel Canizales-Quinteros, Rafael Velázquez-Cruz, Paola León-Mimila, Hugo Villamil-Ramírez, Juan Antonio González-Barrios, José Luis Merino-García, María Rocío Thompson-Bonilla, Diego Jarquin, Osvaldo Erik Sánchez-Hernández, Martha Eunice Rodríguez-Arellano, Carlos Posadas-Romero, Gilberto Vargas-Alarcón, Francisco Campos-Pérez…

    Citation: BMC Medical Genetics 2017 18:46

    Content type: Research article

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  10. 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 ...

    Authors: 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…

    Citation: BMC Medical Genetics 2017 18:45

    Content type: Research article

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  11. This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han p...

    Authors: Xinze Cai, Wenyue Huang, Xudong Liu, Lining Wang and Yi Jiang

    Citation: BMC Medical Genetics 2017 18:43

    Content type: Research article

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  12. 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...

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

    Citation: BMC Medical Genetics 2017 18:41

    Content type: Research article

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  13. 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...

    Authors: 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

    Citation: BMC Medical Genetics 2017 18:39

    Content type: Research article

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  14. 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

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

    Citation: BMC Medical Genetics 2017 18:27

    Content type: Research article

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  15. Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells.

    Authors: Seong Gu Heo, Youngil Koh, Jong Kwang Kim, Jongsun Jung, Hyung-Lae Kim, Sung-Soo Yoon and Ji Wan Park

    Citation: BMC Medical Genetics 2017 18:23

    Content type: Research article

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  16. Variation in the 10 toll-like receptor (TLR) genes has been significantly associated with allergic rhinitis (AR) in several candidate gene studies and three large genome-wide association studies. These have al...

    Authors: V. Henmyr, D. Carlberg, E. Manderstedt, C. Lind-Halldén, T. Säll, L. O. Cardell and C. Halldén

    Citation: BMC Medical Genetics 2017 18:18

    Content type: Research article

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  17. 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...

    Authors: 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

    Citation: BMC Medical Genetics 2017 18:17

    Content type: Research article

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  18. 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...

    Authors: 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

    Citation: BMC Medical Genetics 2017 18:16

    Content type: Research article

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  19. 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...

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

    Citation: BMC Medical Genetics 2017 18:14

    Content type: Research article

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  20. 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...

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

    Citation: BMC Medical Genetics 2017 18:12

    Content type: Research article

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  21. 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...

    Authors: 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

    Citation: BMC Medical Genetics 2017 18:8

    Content type: Research article

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  22. 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...

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

    Citation: BMC Medical Genetics 2017 18:6

    Content type: Research article

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  23. 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...

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

    Citation: BMC Medical Genetics 2016 17:90

    Content type: Research article

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  24. 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...

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

    Citation: BMC Medical Genetics 2016 17:87

    Content type: Research article

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  25. 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 ...

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

    Citation: BMC Medical Genetics 2016 17:80

    Content type: Research article

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  26. 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...

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

    Citation: BMC Medical Genetics 2016 17:79

    Content type: Research article

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

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

    Citation: BMC Medical Genetics 2016 17:74

    Content type: Research article

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  28. Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa....

    Authors: Wafa Khaali, Khalid Moumad, El Khalil Ben Driss, Abdellatif Benider, Wided Ben Ayoub, Mokhtar Hamdi-Cherif, Kada Boualga, Elham Hassen, Marilys Corbex and Meriem Khyatti

    Citation: BMC Medical Genetics 2016 17:72

    Content type: Research article

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  29. T1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes ver...

    Authors: Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson and Sofia Mayans

    Citation: BMC Medical Genetics 2016 17:70

    Content type: Research article

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  30. Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson’s disease (PD) are...

    Authors: Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia and Stephanie Bezzina Wettinger

    Citation: BMC Medical Genetics 2016 17:65

    Content type: Research article

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  31. Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors...

    Authors: Rohini Mehta, Kianoush Jeiran, Aaron B. Koenig, Munkzhul Otgonsuren, Zachary Goodman, Ancha Baranova and Zobair Younossi

    Citation: BMC Medical Genetics 2016 17:63

    Content type: Research article

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  32. Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism...

    Authors: Urban Alehagen, Renate S. Olsen, Toste Länne, Andreas Matussek and Dick Wågsäter

    Citation: BMC Medical Genetics 2016 17:62

    Content type: Research article

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  33. The genetic basis of nonsyndromic familial nonmedullary thyroid cancer (FNMTC) is poorly understood. A recent study identified HABP2 as a tumor suppressor gene and identified a germline variant (G534E) in an exte...

    Authors: Alexia L. Weeks, Scott G. Wilson, Lynley Ward, Jack Goldblatt, Jennie Hui and John P. Walsh

    Citation: BMC Medical Genetics 2016 17:60

    Content type: Research article

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  34. Genetic studies on Acyl-CoA Synthetase Long-Chain 5 (ACSL5) demonstrate an association between rs2419621 genotype and rate of weight loss in women with obesity in response to caloric restriction. Our objective...

    Authors: Abishankari Rajkumar, Gilles Lamothe, Pierrette Bolongo, Mary-Ellen Harper, Kristi Adamo, Éric Doucet, Remi Rabasa-Lhoret, Denis Prud’homme and Frédérique Tesson

    Citation: BMC Medical Genetics 2016 17:56

    Content type: Research article

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  35. Chronic rhinosinusitis (CRS) is a frequent disease with high social impact and multifactorial pathogenesis. Recently, single nucleotide polymorphisms within the TAS2R38 gene have been implicated as possible contr...

    Authors: Stefania Gallo, Sarah Grossi, Giulia Montrasio, Giorgio Binelli, Raffaella Cinquetti, Daniel Simmen, Paolo Castelnuovo and Paola Campomenosi

    Citation: BMC Medical Genetics 2016 17:54

    Content type: Research article

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  36. Ischemic stroke is a life-threatening condition due to obstructed blood supply of the brain. Elevation of plasma C-reactive protein, an important inflammatory marker, was known to associate with increased risk...

    Authors: Haibin Shi, Song Leng, Hui Liang, Yan Zheng and Lidian Chen

    Citation: BMC Medical Genetics 2016 17:51

    Content type: Research article

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  37. X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinica...

    Authors: Daniel Oder, Dorothee Vergho, Georg Ertl, Christoph Wanner and Peter Nordbeck

    Citation: BMC Medical Genetics 2016 17:46

    Content type: Case report

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  38. Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and t...

    Authors: Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu and Tucheng Sun

    Citation: BMC Medical Genetics 2016 17:45

    Content type: Research article

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  39. DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway...

    Authors: Shamik Polley, Valentina Cipriani, Jane C. Khan, Humma Shahid, Anthony T. Moore, John R. W. Yates and Edward J. Hollox

    Citation: BMC Medical Genetics 2016 17:44

    Content type: Research article

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  40. Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is ...

    Authors: Tran Ngoc Dang, Izumi Naka, Areerat Sa-Ngasang, Surapee Anantapreecha, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Jintana Patarapotikul, Naoyuki Tsuchiya and Jun Ohashi

    Citation: BMC Medical Genetics 2016 17:43

    Content type: Research article

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  41. KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) an...

    Authors: André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M. Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V. Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu…

    Citation: BMC Medical Genetics 2016 17:42

    Content type: Research article

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  42. Mutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutatio...

    Authors: Rogério Marins Alves, Sueli Matilde da Silva Costa, Paulo Mauricio do Amôr Divino Miranda, Priscila Zonzini Ramos, Thiago Gibbin Marconi, Gisele Santos Oliveira, Arthur Menino Castilho and Edi Lúcia Sartorato

    Citation: BMC Medical Genetics 2016 17:41

    Content type: Research article

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  43. The silent information regulator SIR2/SIRT1gene has been demonstrated as regulating lifespan in many model organisms, including yeast, worms, fruit flies and rodents. SIRT1, the human homolog of SIR2, is consider...

    Authors: Rong Lin, Dongjing Yan, Yunxia Zhang, Xiaoping Liao, Gu Gong, Junjie Hu, Yunxin Fu and Wangwei Cai

    Citation: BMC Medical Genetics 2016 17:31

    Content type: Research article

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  44. Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) r...

    Authors: Rubika Balendra, James Uphill, Claire Collinson, Ronald Druyeh, Gary Adamson, Holger Hummerich, Inga Zerr, Pierluigi Gambetti, John Collinge and Simon Mead

    Citation: BMC Medical Genetics 2016 17:28

    Content type: Research article

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  45. Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution ...

    Authors: Hamid Reza Saadati, Michael Wittig, Ingo Helbig, Robert Häsler, Carl A. Anderson, Christopher G. Mathew, Limas Kupcinskas, Miles Parkes, Tom Hemming Karlsen, Philip Rosenstiel, Stefan Schreiber and Andre Franke

    Citation: BMC Medical Genetics 2016 17:26

    Content type: Research article

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  46. Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children, the etiology of which involves a strong genetic component, but much of the underlying genetic determinants still...

    Authors: Terri H. Finkel, Jin Li, Zhi Wei, Wei Wang, Haitao Zhang, Edward M. Behrens, Emma L. Reuschel, Sophie Limou, Carol Wise, Marilynn Punaro, Mara L. Becker, Jane E. Munro, Berit Flatø, Øystein Førre, Susan D. Thompson, Carl D. Langefeld…

    Citation: BMC Medical Genetics 2016 17:24

    Content type: Research article

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  47. Plasma coagulation Factor XIIa (Hageman factor; encoded by F12) and kallikrein (KAL or Fletcher factor; encoded by KLKB1) are proteases of the kallikerin-kinin system involved in converting the inactive circulati...

    Authors: Nilima Biswas, Adam X. Maihofer, Saiful Anam Mir, Fangwen Rao, Kuixing Zhang, Srikrishna Khandrika, Manjula Mahata, Ryan S. Friese, C. Makena Hightower, Sushil K. Mahata, Dewleen G. Baker, Caroline M. Nievergelt, Sucheta M. Vaingankar and Daniel T. O’Connor

    Citation: BMC Medical Genetics 2016 17:21

    Content type: Research article

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  48. Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis...

    Authors: Orazio Gabrielli, Lorne A. Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi and Giovanni V. Coppa

    Citation: BMC Medical Genetics 2016 17:19

    Content type: Case report

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