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.

Previous Page Page 1 of 17 Next Page
  1. Research article

    Relationship between interpersonal sensitivity and leukocyte telomere length

    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...

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

    BMC Medical Genetics 2017 18:112

    Published on: 10 October 2017

  2. Research article

    Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

    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...

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

    BMC Medical Genetics 2017 18:111

    Published on: 6 October 2017

  3. Research article

    Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands

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

    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

    BMC Medical Genetics 2017 18:109

    Published on: 5 October 2017

  4. Research article

    Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood

    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...

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

    BMC Medical Genetics 2017 18:107

    Published on: 3 October 2017

  5. Research article

    Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents

    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. ...

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

    BMC Medical Genetics 2017 18:100

    Published on: 13 September 2017

  6. Research article

    Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

    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...

    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…

    BMC Medical Genetics 2017 18:94

    Published on: 29 August 2017

  7. Research article

    Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

    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 ...

    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

    BMC Medical Genetics 2017 18:92

    Published on: 23 August 2017

  8. Research article

    Allelic variants in vitamin D receptor gene are associated with adiposity measures in the central-European population

    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...

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

    BMC Medical Genetics 2017 18:90

    Published on: 22 August 2017

  9. Research article

    Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: a systematic review and meta-analysis

    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...

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

    BMC Medical Genetics 2017 18:89

    Published on: 21 August 2017

  10. Research article

    Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

    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...

    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

    BMC Medical Genetics 2017 18:85

    Published on: 16 August 2017

  11. Research article

    Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study

    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...

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

    BMC Medical Genetics 2017 18:84

    Published on: 14 August 2017

  12. Research article

    The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

    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...

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

    BMC Medical Genetics 2017 18:81

    Published on: 1 August 2017

  13. Research article

    Associations between male infertility and ancestry in South Americans: a case control study

    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...

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

    BMC Medical Genetics 2017 18:78

    Published on: 26 July 2017

  14. Research article

    Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study

    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.

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

    BMC Medical Genetics 2017 18:76

    Published on: 24 July 2017

  15. Research article

    Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

    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...

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

    BMC Medical Genetics 2017 18:74

    Published on: 18 July 2017

  16. Research article

    Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

    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...

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

    BMC Medical Genetics 2017 18:70

    Published on: 6 July 2017

Previous Page Page 1 of 17 Next Page