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Genetic epidemiology and genetic associations Section edited by Jorg Epplen, Dan Rujescu, and David-Alexandre Tregouet

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   Open Access

Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children

Yuling Zhang, Shufen Yang, Ye Liu, Lihong Ren BMC Medical Genetics 2013, 14:101 (30 September 2013)

Abstract | Provisional PDF | PubMed

2.

Research article   Open Access

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children

Asif S Tulah, John W Holloway, Ian Sayers BMC Medical Genetics 2013, 14:100 (25 September 2013)

Abstract | Full text | PDF | PubMed

3.

Research article   Open Access

A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning

Fei Liang, Wenqiang Li, Ping Zhang, Yanxia Zhang, Jiapeng Gu, Xiahong Wang, Hongxing Zhang, Renjun Gu BMC Medical Genetics 2013, 14:99 (25 September 2013)

Abstract | Full text | PDF | PubMed

4.

Research article   Open Access

Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study

Megan D Fesinmeyer, James B Meigs, Kari E North, Fredrick R Schumacher, Petra Bůžková, Nora Franceschini, Jeffrey Haessler, Robert Goodloe, Kylee L Spencer, Venkata Voruganti, Barbara V Howard, Rebecca Jackson, Laurence N Kolonel, Simin Liu, JoAnn E Manson, Kristine R Monroe, Kenneth Mukamal, Holli H Dilks, Sarah A Pendergrass, Andrew Nato, Peggy Wan, Lynne R Wilkens, Loic Marchand, José Ambite, Steven Buyske, Jose C Florez, Dana C Crawford, Lucia A Hindorff, Christopher A Haiman, Ulrike Peters, James S Pankow et al. BMC Medical Genetics 2013, 14:98 (25 September 2013)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

5.

Research article   Open Access

Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma

Kerem M Senses, Mithat Gonen, Ahmet R Barutcu, Zeynep Kalaylioglu, Murat Isbilen, Ozlen Konu, Yao T Chen, Nasser K Altorki, Ali O Gure BMC Medical Genetics 2013, 14:97 (24 September 2013)

Abstract | Full text | PDF | PubMed

6.

Research article   Open Access

The TCF7L2 rs7903146 (T) allele is associated with type 2 diabetes in urban Ghana: a hospital-based case–control study

Ina Danquah, Till Othmer, Laura K Frank, George Bedu-Addo, Matthias B Schulze, Frank P Mockenhaupt BMC Medical Genetics 2013, 14:96 (23 September 2013)

Abstract | Full text | PDF | PubMed

7.

Research article   Open Access

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai, Shin-ichi Usami BMC Medical Genetics 2013, 14:95 (22 September 2013)

Abstract | Full text | PDF | PubMed

8.

Research article   Open Access

Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes

Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva, João Antonio Pêgas Henriques BMC Medical Genetics 2013, 14:93 (20 September 2013)

Abstract | Full text | PDF | PubMed

9.

Research article   Open Access Highly Accessed

Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease

Matthew T Bishop, Pascual Sanchez-Juan, Richard SG Knight BMC Medical Genetics 2013, 14:91 (12 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

10.

Research article   Open Access Highly Accessed

Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population

Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb, Ghada A Ebrahim BMC Medical Genetics 2013, 14:90 (12 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

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