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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. Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. However, the results remain inconsistent and ...

    Authors: Xing-ling Qi, Jun Yao and Yong Zhang

    Citation: BMC Medical Genetics 2017 18:123

    Content type: Research article

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  2. The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer.

    Authors: Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo…

    Citation: BMC Medical Genetics 2017 18:122

    Content type: Research article

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  3. Studies have sought associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol-dependence, but findings are inconsistent. We summarize the information as to associations of rs...

    Authors: Xiangyi Kong, Hao Deng, Shun Gong, Theodore Alston, Yanguo Kong and Jingping Wang

    Citation: BMC Medical Genetics 2017 18:120

    Content type: Research article

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  4. Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavio...

    Authors: Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto and Koichi Otani

    Citation: BMC Medical Genetics 2017 18:112

    Content type: Research article

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  5. Down’s syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40–60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gende...

    Authors: Tereza Cristina Pinheiro Diogenes, Felipe Alves Mourato, José Luiz de Lima Filho and Sandra da Silva Mattos

    Citation: BMC Medical Genetics 2017 18:111

    Content type: Research article

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  6. Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom seve...

    Authors: Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma and Kanchan Mukhopadhyay

    Citation: BMC Medical Genetics 2017 18:109

    Content type: Research article

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  7. Osteoporosis individual susceptibility is determined by the interaction of multiple genetic variants and environmental factors. The aim of this study was to conduct SNP-SNP interaction analyses in candidate ge...

    Authors: María Correa-Rodríguez, Sebastien Viatte, Jonathan Massey, Jacqueline Schmidt-RioValle, Blanca Rueda-Medina and Gisela Orozco

    Citation: BMC Medical Genetics 2017 18:107

    Content type: Research article

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  8. Variations within fat mass and obesity associated (FTO) gene had crosstalk with obesity risk in European and some Asian populations. This study was designed to investigate FTO rs9939609 association with metabolic...

    Authors: Mina S. Khella, Nadia M. Hamdy, Ashraf I. Amin and Hala O. El-Mesallamy

    Citation: BMC Medical Genetics 2017 18:101

    Content type: Research article

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  9. Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied. ...

    Authors: Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene and Vaiva Lesauskaite

    Citation: BMC Medical Genetics 2017 18:100

    Content type: Research article

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  10. Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the rel...

    Authors: Qing-jun Chu, Rui Hua, Chen Luo, Qing-jie Chen, Biao Wu, Song Quan and Yong-tong Zhu

    Citation: BMC Medical Genetics 2017 18:98

    Content type: Research article

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  11. A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results ...

    Authors: Lina Yang, Lan Wu, Yi Fan and Jianfei Ma

    Citation: BMC Medical Genetics 2017 18:95

    Content type: Research article

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  12. Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wid...

    Authors: Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms…

    Citation: BMC Medical Genetics 2017 18:94

    Content type: Research article

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  13. Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so far. Most of these overlap with loci associated with ...

    Authors: Steffen Uebe, Maria Ehrlicher, Arif Bülent Ekici, Frank Behrens, Beate Böhm, Georg Homuth, Claudia Schurmann, Uwe Völker, Michael Jünger, Matthias Nauck, Henry Völzke, Heiko Traupe, Michael Krawczak, Harald Burkhardt, André Reis and Ulrike Hüffmeier

    Citation: BMC Medical Genetics 2017 18:92

    Content type: Research article

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  14. There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D rec...

    Authors: Julie Bienertová-Vašků, Filip Zlámal, Aneta Pohořalá, Ondřej Mikeš, Monika Goldbergová-Pávková, Jan Novák, Zbyněk Šplíchal and Hynek Pikhart

    Citation: BMC Medical Genetics 2017 18:90

    Content type: Research article

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  15. Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a co...

    Authors: Ai Ling Liu, Hui Jun Xie, Hong Yan Xie, Jun Liu, Jie Yin, Jin Song Hu and Cui Ying Peng

    Citation: BMC Medical Genetics 2017 18:89

    Content type: Research article

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  16. Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations ar...

    Authors: Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid and Mohamed Ahmed Salih Hassan

    Citation: BMC Medical Genetics 2017 18:85

    Content type: Research article

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  17. Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the develo...

    Authors: Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X. Leng and Birong Dong

    Citation: BMC Medical Genetics 2017 18:84

    Content type: Research article

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  18. Male infertility is a complex disorder caused by genetic, developmental, endocrine, or environmental factors as well as unknown etiology. Polymorphisms in the follicle stimulating hormone beta subunit (FSHB) (rs1...

    Authors: Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Mengxia Ni, Mingchao Zhang, Weiwei Li, Qing Zhou, Yingxia Cui and Xinyi Xia

    Citation: BMC Medical Genetics 2017 18:81

    Content type: Research article

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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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