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7. A Simple and Computationally Efficient Approach to Multifactor Dimensionality Reduction Analysis of Gene-Gene Interactions for Quantitative Traits

Author

Gui, Jiang, primary, Moore, Jason H., additional, Williams, Scott M., additional, Andrews, Peter, additional, Hillege, Hans L., additional, van der Harst, Pim, additional, Navis, Gerjan, additional, Van Gilst, Wiek H., additional, Asselbergs, Folkert W., additional, and Gilbert-Diamond, Diane, additional

Published
2013
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9. MCP1 SNPs and Pulmonary Tuberculosis in Cohorts from West Africa, the USA and Argentina: Lack of Association or Epistasis with IL12B Polymorphisms

Author

Velez Edwards, Digna R., primary, Tacconelli, Alessandra, additional, Wejse, Christian, additional, Hill, Philip C., additional, Morris, Gerard A. J., additional, Edwards, Todd L., additional, Gilbert, John R., additional, Myers, Jamie L., additional, Park, Yo Son, additional, Stryjewski, Martin E., additional, Abbate, Eduardo, additional, Estevan, Rosa, additional, Rabna, Paulo, additional, Novelli, Giuseppe, additional, Hamilton, Carol D., additional, Adegbola, Richard, additional, Østergaard, Lars, additional, Williams, Scott M., additional, Scott, William K., additional, and Sirugo, Giorgio, additional

Published
2012
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11. Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

Author

Salyakina, Daria, primary, Cukier, Holly N., additional, Lee, Joycelyn M., additional, Sacharow, Stephanie, additional, Nations, Laura D., additional, Ma, Deqiong, additional, Jaworski, James M., additional, Konidari, Ioanna, additional, Whitehead, Patrice L., additional, Wright, Harry H., additional, Abramson, Ruth K., additional, Williams, Scott M., additional, Menon, Ramkumar, additional, Haines, Jonathan L., additional, Gilbert, John R., additional, Cuccaro, Michael L., additional, and Pericak-Vance, Margaret A., additional

Published
2011
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12. Correction: Interleukin 12B (IL12B) Genetic Variation and Pulmonary Tuberculosis: A Study of Cohorts from The Gambia, Guinea-Bissau, United States and Argentina

Author

Morris, Gerard A. J., primary, Edwards, Digna R. Velez, additional, Hill, Philip C., additional, Wejse, Christian, additional, Bisseye, Cyrille, additional, Olesen, Rikke, additional, Edwards, Todd L., additional, Gilbert, John R., additional, Myers, Jamie L., additional, Stryjewski, Martin E., additional, Abbate, Eduardo, additional, Estevan, Rosa, additional, Hamilton, Carol D., additional, Tacconelli, Alessandra, additional, Novelli, Giuseppe, additional, Brunetti, Ercole, additional, Aaby, Peter, additional, Sodemann, Morten, additional, Østergaard, Lars, additional, Adegbola, Richard, additional, Williams, Scott M., additional, Scott, William K., additional, and Sirugo, Giorgio, additional

Published
2011
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13. Correction: Host Genetic Factors and Vaccine-Induced Immunity to HBV Infection: Haplotype Analysis

Author

Ryckman, Kelli K., primary, Fielding, Katherine, additional, Hill, Adrian V., additional, Mendy, Maimuna, additional, Rayco-Solon, Pura, additional, Sirugo, Giorgio, additional, van der Sande, Marianne A., additional, Waight, Pauline, additional, Whittle, Hilton C., additional, Hall, Andrew J., additional, Williams, Scott M., additional, and Hennig, Branwen J., additional

Published
2011
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15. Interleukin 12B (IL12B) Genetic Variation and Pulmonary Tuberculosis: A Study of Cohorts from The Gambia, Guinea-Bissau, United States and Argentina

Author

Morris, Gerard A. J., primary, Edwards, Digna R. Velez, additional, Hill, Philip C., additional, Wejse, Christian, additional, Bisseye, Cyrille, additional, Olesen, Rikke, additional, Edwards, Todd L., additional, Gilbert, John R., additional, Myers, Jamie L., additional, Stryjewski, Martin E., additional, Abbate, Eduardo, additional, Estevan, Rosa, additional, Hamilton, Carol D., additional, Tacconelli, Alessandra, additional, Novelli, Giuseppe, additional, Brunetti, Ercole, additional, Aaby, Peter, additional, Sodemann, Morten, additional, Østergaard, Lars, additional, Adegbola, Richard, additional, Williams, Scott M., additional, Scott, William K., additional, and Sirugo, Giorgio, additional

Published
2011
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17. Host Genetic Factors and Vaccine-Induced Immunity to HBV Infection: Haplotype Analysis

Author

Ryckman, Kelli K., primary, Fielding, Katherine, additional, Hill, Adrian V., additional, Mendy, Maimuna, additional, Rayco-Solon, Pura, additional, Sirugo, Giorgio, additional, van der Sande, Marianne A., additional, Waight, Pauline, additional, Whittle, Hilton C., additional, Hall, Andrew J., additional, Williams, Scott M., additional, and Hennig, Branwen J., additional

Published
2010
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22. X-Linked MTMR8 Diversity and Evolutionary History of Sub-Saharan Populations.

Author

Labuda, Damian, Yotova, Vania, Lefebvre, Jean-François, Moreau, Claudia, Utermann, Gerd, and Williams, Scott M.

Subjects
POPULATION genetics, BIOLOGICAL evolution, HAPLOTYPES, EMIGRATION & immigration, CENTROMERE
Abstract

The genetic diversity within an 11 kb segment of the MTMR8 gene in a sample of 111 sub-Saharan and 49 non-African X chromosomes was investigated to assess the early evolutionary history of sub-Saharan Africans and the out-of-Africa expansion. The analyses revealed a complex genetic structure of the Africans that contributed to the emergence of modern humans. We observed partitioning of two thirds of old lineages among southern, west/central and east African populations indicating ancient population stratification predating the out of Africa migration. Age estimates of these lineages, older than coalescence times of uniparentally inherited markers, raise the question whether contemporary humans originated from a single population or as an amalgamation of different populations separated by years of independent evolution, thus suggesting a greater antiquity of our species than generally assumed. While the oldest sub-Saharan lineages, ∼500 thousand years, are found among Khoe-San from southern-Africa, a distinct haplotype found among Biaka is likely due to admixture from an even older population. An East African population that gave rise to non-Africans underwent a selective sweep affecting the subcentromeric region where MTMR8 is located. This and similar sweeps in four other regions of the X chromosome, documented in the literature, effectively reduced genetic diversity of non-African chromosomes and therefore may have exacerbated the effect of the demographic bottleneck usually ascribed to the out of Africa migration. Our data is suggestive, however, that a bottleneck, occurred in Africa before range expansion. [ABSTRACT FROM AUTHOR]

Published
2013
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23. MCP1 SNPs and Pulmonary Tuberculosis in Cohorts from West Africa, the USA and Argentina: Lack of Association or Epistasis with IL12B Polymorphisms.

Author

Edwards, Digna R. Velez, Tacconelli, Alessandra, Wejse, Christian, Hill, Philip C., Morris, Gerard A. J., Edwards, Todd L., Gilbert, John R., Myers, Jamie L., Park, Yo Son, Stryjewski, Martin E., Abbate, Eduardo, Estevan, Rosa, Rabna, Paulo, Novelli, Giuseppe, Hamilton, Carol D., Adegbola, Richard, Østergaard, Lars, Williams, Scott M., Scott, William K., and Sirugo, Giorgio

Subjects
TUBERCULOSIS, MONOCYTE chemotactic factor, SINGLE nucleotide polymorphisms, MULTICULTURALISM
Abstract

The monocyte chemotactic protein-1 (MCP-1) is a chemokine that plays an important role in the recruitment of monocytes to M. tuberculosis infection sites, and previous studies have reported that genetic variants in MCP1 are associated with differential susceptibility to pulmonary tuberculosis (PTB). We examined eight MCP1 single nucleotide polymorphisms (SNPs) in a multi-ethnic, case-control design that included: 321 cases and 346 controls from Guinea-Bissau, 258 cases and 271 controls from The Gambia, 295 cases and 179 controls from the U.S. (African-Americans), and an additional set of 237 cases and 144 controls of European ancestry from the U.S. and Argentina. Two locus interactions were also examined for polymorphisms in MCP1 and interleukin 12B (IL12B), another gene implicated in PTB risk. Examination of previously associated MCP1 SNPs rs1024611 (-2581A/G), rs2857656 (-362G/C) and rs4586 (+900C/T) did not show evidence for association. One interaction between rs2857656 and IL12B SNP rs2288831 was observed among Africans but the effect was in the opposite direction in Guineans (OR = 1.90, p = 0.001) and Gambians (OR = 0.64, p = 0.024). Our data indicate that the effect of genetic variation within MCP1 is not clear cut and additional studies will be needed to elucidate its role in TB susceptibility. [ABSTRACT FROM AUTHOR]

Published
2012
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24. SHBG Gene Polymorphism (rs1799941) Associates with Metabolic Syndrome in Children and Adolescents

Author

Scott M. Williams, Marquitta J. White, Fatih Eren, Deniz Agirbasli, Mehmet Agirbasli, White, Marquitta J., Eren, Fatih, Agirbasli, Deniz, Williams, Scott M., Agirbasli, Mehmet, and Acibadem University Dspace

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Science, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Childhood obesity, Cohort Studies, Insulin resistance, Sex hormone-binding globulin, Internal medicine, Sex Hormone-Binding Globulin, medicine, HORMONE-BINDING GLOBULIN, Humans, Allele, CHOLESTEROL LEVELS, Child, POPULATION, Metabolic Syndrome, Multidisciplinary, DISEASE RISK, TURKISH, medicine.disease, Obesity, INSULIN, 3. Good health, BODY-MASS INDEX, Endocrinology, OBESITY, biology.protein, Medicine, SEX-HORMONES, Female, Gene polymorphism, Metabolic syndrome, LIPID-LEVELS, Research Article
Abstract

BackgroundMetabolic syndrome (MetS) is a complex disorder characterized by coexistence of several cardiometabolic (CM) factors, i.e. hyperlipidemia, obesity, high blood pressure and insulin resistance. The presence of MetS is strongly associated with increased risk of cardiovascular disease (CVD). The syndrome was originally defined as an adult disorder, but MetS has become increasingly recognized in children and adolescents.MethodsGenetic variants influence biological components common to the CM factors that comprise MetS. We investigated single locus associations between six single nucleotide polymorphisms (SNPs), previously shown to modulate lipid or sex hormone binding globulin (SHBG) levels, with MetS in a Turkish pediatric cohort (37 cases, 323 controls).ResultsLogistic regression analysis revealed a significant association between rs1799941, located in SHBG, and MetS (OR = 3.09, p-value = 0.006). The association with MetS remained after sequential adjustment for each CM factor included in the syndrome definition, indicating that the identified association is not being driven by any single trait. A relationship between rs1799941 and SHBG levels, was also discovered, but it was dependent on MetS status. In control subjects, the A allele of rs1799941 associated with a significant increase in SHBG levels (p = 0.012), while in cases there was no association between rs1799941 and SHBG levels (p = 0.963).ConclusionsThe significant association between rs1799941 and MetS in children is not contingent on any single CM trait. Additionally, the presence of MetS may abrogate effect of rs1799941 polymorphism on SHBG levels in children.

Published
2015

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