Search Results - (Author, Cooperation:M. I. Kamboh)

Showing 1 - 14 results of 14, query time: 0.21s Refine Results
  1. 1
    C. Cruchaga ; C. M. Karch ; S. C. Jin ; B. A. Benitez ; Y. Cai ; R. Guerreiro ; O. Harari ; J. Norton ; J. Budde ; S. Bertelsen ; A. T. Jeng ; B. Cooper ; T. Skorupa ; D. Carrell ; D. Levitch ; S. Hsu ; J. Choi ; M. Ryten ; J. Hardy ; D. Trabzuni ; M. E. Weale ; A. Ramasamy ; C. Smith ; C. Sassi ; J. Bras ; J. R. Gibbs ; D. G. Hernandez ; M. K. Lupton ; J. Powell ; P. Forabosco ; P. G. Ridge ; C. D. Corcoran ; J. T. Tschanz ; M. C. Norton ; R. G. Munger ; C. Schmutz ; M. Leary ; F. Y. Demirci ; M. N. Bamne ; X. Wang ; O. L. Lopez ; M. Ganguli ; C. Medway ; J. Turton ; J. Lord ; A. Braae ; I. Barber ; K. Brown ; P. Passmore ; D. Craig ; J. Johnston ; B. McGuinness ; S. Todd ; R. Heun ; H. Kolsch ; P. G. Kehoe ; N. M. Hooper ; E. R. Vardy ; D. M. Mann ; S. Pickering-Brown ; N. Kalsheker ; J. Lowe ; K. Morgan ; A. David Smith ; G. Wilcock ; D. Warden ; C. Holmes ; P. Pastor ; O. Lorenzo-Betancor ; Z. Brkanac ; E. Scott ; E. Topol ; E. Rogaeva ; A. B. Singleton ; M. I. Kamboh ; P. St George-Hyslop ; N. Cairns ; J. C. Morris ; J. S. Kauwe ; A. M. Goate
    Nature Publishing Group (NPG)
    Published 2013
    Staff View
    Publication Date:
    2013-12-18
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    African Americans/genetics ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/*genetics/metabolism ; Amyloid beta-Peptides/metabolism ; Amyloid beta-Protein Precursor/metabolism ; Brain/metabolism ; Case-Control Studies ; Europe/ethnology ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Genetic Variation/*genetics ; Humans ; Male ; Peptide Fragments/metabolism ; Phospholipase D/deficiency/*genetics/metabolism ; Protein Processing, Post-Translational/genetics ; Proteolysis
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J.-F., Duron, E., Vardarajan, B. N., Reitz, C., Goate, A. M., Huentelman, M. J., Kamboh, M. I., Larson, E. B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W. A., Farrer, L. A., Barnes, L. L., Beach, T. G., Demirci, F. Y., Head, E., Hulette, C. M., Jicha, G. A., Kauwe, J. S. K., Kaye, J. A., Leverenz, J. B., Levey, A. I., Lieberman, A. P., Pankratz, V. S., Poon, W. W., Quinn, J. F., Saykin, A. J., Schneider, L. S., Smith, A. G., Sonnen, J. A., Stern, R. A., Van Deerlin, V. M., Van Eldik, L. J., Harold, D., Russo, G., Rubinsztein, D. C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N. C., Hampel, H., Owen, M. J., Mead, S., Passmore, P., Morgan, K., Nöthen, M. M., Rossor, M., Lupton, M. K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J. C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S. J., De Jager, P. L., Geschwind, D. H., Riemenschneider, M., Riedel-Heller, S., Rotter, J. I., Ransmayr, G., Hyman, B. T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K.-H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G. M., Freilinger, T., Ran, C., Gordon, S. D., Borck, G., Adams, H. H. H., Lehtimäki, T., Wedenoja, J., Buring, J. E., Schürks, M., Hrafnsdottir, M., Hottenga, J.-J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N. G., Montgomery, G. W., Kurki, M. I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M. D., Belin, A. C., van den Maagdenberg, A. M. J. M., Zwart, J.-A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D. I., Nyholt, D. R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C. B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T. N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W. S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Moller, R. S., Molloy, A., Ng, P.-W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A.-K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S. M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G. N., Visscher, F., Whelan, C. D., Zara, F., Heinzen, E. L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H. R., Sharma, M., Ryten, M., Mok, K. Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W.-M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L. M., Huckins, L. M., William Rayner, N., Lewis, C. M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J. I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J. H., OToole, J. K., Trace, S. E., Davis, O. S. P., Helder, S. G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U. N., van Elburg, A. A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julia, A., Rabionet, R., Dick, D. M., Ripatti, S., Andreassen, O. A., Espeseth, T., Lundervold, A. J., Steen, V. M., Pinto, D., Scherer, S. W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K. A., Mitchell, J., Strober, M., Bergen, A. W., Kaye, W., Szatkiewicz, J. P., Cormand, B., Ramos-Quiroga, J. A., Sanchez-Mora, C., Ribases, M., Casas, M., Hervas, A., Arranz, M. J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R. D., Banaschewski, T., Franke, B., Buitelaar, J. K., Arias Vasquez, A., Doyle, A. E., Reif, A., Lesch, K.-P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S. H., Dalsgaard, S., Borglum, A. D., Waldman, I., Wilmot, B., Molly, N., Bau, C. H. D., Crosbie, J., Schachar, R., Loo, S. K., McGough, J. J., Grevet, E. H., Medland, S. E., Robinson, E., Weiss, L. A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S. M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D. M.-, Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Roge, B., Magalhaes, T., Arking, D., Schulze, T. G., Thompson, R. C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S. E., Schalling, M., Jamain, S., Maaser, A., Fischer, S. B., Reinbold, C. S., Fullerton, J. M., Guzman-Parra, J., Mayoral, F., Schofield, P. R., Cichon, S., Mühleisen, T. W., Degenhardt, F., Schumacher, J., Bauer, M., Mitchell, P. B., Gershon, E. S., Rice, J., Potash, J. B., Zandi, P. P., Craddock, N., Ferrier, I. N., Alda, M., Rouleau, G. A., Turecki, G., Ophoff, R., Pato, C., Anjorin, A., Stahl, E., Leber, M., Czerski, P. M., Cruceanu, C., Jones, I. R., Posthuma, D., Andlauer, T. F. M., Forstner, A. J., Streit, F., Baune, B. T., Air, T., Sinnamon, G., Wray, N. R., Mac; Intyre, D. J., Porteous, D., Homuth, G., Rivera, M., Grove, J., Middeldorp, C. M., Hickie, I., Pergadia, M., Mehta, D., Smit, J. H., Jansen, R., de Geus, E., Dunn, E., Li, Q. S., Nauck, M., Schoevers, R. A., Beekman, A. T., Knowles, J. A., Viktorin, A., Arnold, P., Barr, C. L., Bedoya-Berrio, G., Bienvenu, O. J., Brentani, H., Burton, C., Camarena, B., Cappi, C., Cath, D., Cavallini, M., Cusi, D., Darrow, S., Denys, D., Derks, E. M., Dietrich, A., Fernandez, T., Figee, M., Freimer, N., Gerber, G., Grados, M., Greenberg, E., Hanna, G. L., Hartmann, A., Hirschtritt, M. E., Hoekstra, P. J., Huang, A., Huyser, C., Illmann, C., Jenike, M., Kuperman, S., Leventhal, B., Lochner, C., Lyon, G. J., Macciardi, F., Madruga-Garrido, M., Malaty, I. A., Maras, A., McGrath, L., Miguel, E. C., Mir, P., Nestadt, G., Nicolini, H., Okun, M. S., Pakstis, A., Paschou, P., Piacentini, J., Pittenger, C., Plessen, K., Ramensky, V., Ramos, E. M., Reus, V., Richter, M. A., Riddle, M. A., Robertson, M. M., Roessner, V., Rosario, M., Samuels, J. F., Sandor, P., Stein, D. J., Tsetsos, F., Van Nieuwerburgh, F., Weatherall, S., Wendland, J. R., Wolanczyk, T., Worbe, Y., Zai, G., Goes, F. S., McLaughlin, N., Nestadt, P. S., Grabe, H.-J., Depienne, C., Konkashbaev, A., Lanzagorta, N., Valencia-Duarte, A., Bramon, E., Buccola, N., Cahn, W., Cairns, M., Chong, S. A., Cohen, D., Crespo-Facorro, B., Crowley, J., Davidson, M., De; Lisi, L., Dinan, T., Donohoe, G., Drapeau, E., Duan, J., Haan, L., Hougaard, D., Karachanak-Yankova, S., Khrunin, A., Klovins, J., Kucinskas, V., Lee Chee Keong, J., Limborska, S., Loughland, C., Lönnqvist, J., Maher, B., Mattheisen, M., McDonald, C., Murphy, K. C., Nenadic, I., van Os, J., Pantelis, C., Pato, M., Petryshen, T., Quested, D., Roussos, P., Sanders, A. R., Schall, U., Schwab, S. G., Sim, K., So, H.-C., Stögmann, E., Subramaniam, M., Toncheva, D., Waddington, J., Walters, J., Weiser, M., Cheng, W., Cloninger, R., Curtis, D., Gejman, P. V., Henskens, F., Mattingsdal, M., Oh, S.-Y., Scott, R., Webb, B., Breen, G., Churchhouse, C., Bulik, C. M., Daly, M., Dichgans, M., Faraone, S. V., Guerreiro, R., Holmans, P., Kendler, K. S., Koeleman, B., Mathews, C. A., Price, A., Scharf, J., Sklar, P., Williams, J., Wood, N. W., Cotsapas, C., Palotie, A., Smoller, J. W., Sullivan, P., Rosand, J., Corvin, A., Neale, B. M.
    American Association for the Advancement of Science (AAAS)
    Published 2018
    Staff View
    Publication Date:
    2018-06-22
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Geosciences
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Genetics, Medicine, Diseases, Online Only
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Kamboh, M. I. ; Ferrell, R. E.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1987
    Staff View
    ISSN:
    1744-313X
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Biology
    Medicine
    Notes:
    Charge-based structural variation has been observed in the C1, subcomponent of the first complement component C1 after isoelectric focusing and immunoblot-ting. One common and two uncommon autosomal co-dominantly expressed alleles, designated ClS*1, ClS*2 and ClS*3, have been recognized at the ClS structural locus. The frequency of these alleles was 0·979, 0·016 and 0·005, respectively, in a U.S. white population. No variation at the ClS locus was observed in a U.S. black sample (n = 95).
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1744-313X.1987.tb00385.x

    Articles: DFG German National Licenses
  4. 4
    Kamboh, M. I. ; Serjeantson, S. W. ; Ferrell, R. E.

    Baltimore : Periodicals Archive Online (PAO)
    Published 1991
    Staff View
    ISSN:
    0018-7143
    Topics:
    Biology
    URL:
    http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pao:&rft_dat=xri:pao:article:5243-1991-063-02-000006

    Articles: DFG German National Licenses
  5. 5
    Saha, N. ; Kamboh, M. I. ; Kelly, L. J. ; Ferrell, R. E. ; Tay, J. S. H.

    Baltimore : Periodicals Archive Online (PAO)
    Published 1992
    Staff View
    ISSN:
    0018-7143
    Topics:
    Biology
    Notes:
    Brief Communications
    URL:
    http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pao:&rft_dat=xri:pao:article:5243-1992-064-04-000009

    Articles: DFG German National Licenses
  6. 6
    Deka, R. ; McGarvey, S. T. ; Ferrell, R. E. ; Kamboh, M. I. ; Yu, L. M. ; Aston, C. E. ; Jin, L. ; Chakraborty, R.

    Baltimore : Periodicals Archive Online (PAO)
    Published 1994
    Staff View
    ISSN:
    0018-7143
    Topics:
    Biology
    URL:
    http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pao:&rft_dat=xri:pao:article:5243-1994-066-05-000005

    Articles: DFG German National Licenses
  7. 7
    Razzaghi, H. ; Aston, C. E. ; Hamman, R. F. ; Kamboh, M. I.
    Springer
    Published 2000
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract. The lipoprotein lipase (LPL) enzyme plays a major role in lipid metabolism, primarily by regulating the catabolism of triglyceride (TG)-rich lipoprotein particles. The gene for LPL is an important candidate for affecting the risk of atherosclerosis in the general population. Previously, we have shown that the HindIII polymorphism in intron 8 of the LPL gene is associated with plasma TG and HDL-cholesterol variation in Hispanics and non-Hispanic whites (NHWs). However, this polymorphism is located in an intron and hence may be in linkage disequilibrium with a functional mutation in the coding region or intron-exon junctions of the LPL gene. The aim of this study was to initially screen the LPL coding region and the intron-exon junctions by single-strand conformation polymorphism (SSCP) analysis for mutation detection in a group of 86 individuals expressing the phenotype of high TG/low HDL, followed by association studies in a population-based sample of 1014 Hispanics and NHWs. Four sequence variations were identified by SSCP and DNA sequencing in the coding region of the gene, including two missense mutations (D9N in exon 2 and N291S in exon 6), one samesense mutation (V108V in exon 3), and one nonsense mutation (S447X in exon 9). Multiple regression analyses, including these four mutations and the HindIII polymorphic site, indicate that the association of the HindIII site with plasma TG (P=0.001 in NHWs and P=0.002 in Hispanics) and HDL-cholesterol (P=0.007 in NHWs and P=0.127 in Hispanics) is independent of all other LPL variable sites examined. These observations reinforce the concept that the intronic 8 HindIII site is functional by itself and provide a strong rationale for future comprehensive functional studies to delineate its biological significance.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390000367

    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Apolipoprotein H (apoH, protein; APOH, gene) is considered to be an essential cofactor for the binding of certain antiphospholipid autoantibodies to anionic phospholipids. APOH exhibits a genetically determined structural polymorphism due to the presence of three common alleles (APOH*1, APOH*2 and APOH*3 ) detectable by isoelectric focusing (IEF) and immunoblotting. The APOH*3 allele can be further characterized into two subtypes, APOH*3W and APOH*3B, based upon its reactivity with monoclonal antibody 3D11. In this study we have determined the molecular basis of the APOH protein polymorphism and its distribution in three large U.S. population samples comprising 661 non-Hispanic whites, 444 Hispanics and 422 blacks. By direct DNA sequencing of PCR amplified fragments corresponding to the eight APOH exons, we identified two missense mutations that correspond to the APOH*1 and APOH*3W alleles. A missense mutation (G→A) in exon 3, which alters amino acid Ser to Asn at codon 88 and creates a restriction site for TSP509 I, was present in all APOH*1 allele carriers. A second missense mutation (G→C) at codon 316 in exon 8, which replaces amino acid Trp with Ser and creates a restriction site for BSTBI, was present in all APOH*3W carriers. The distribution of the Ser 88 Asn and Trp 316 Ser mutations was significantly different between the three racial groups. The frequency of the Asn-88 allele was 0.011, 0.043, and 0.056 in blacks, Hispanics and non-Hispanic whites, respectively. While the Ser-316 allele was observed sporadically in blacks (0.008), it was present at a polymorphic frequency in Hispanics (0.027) and non-Hispanic whites (0.059). The identification of the molecular basis of the APOH protein polymorphism will help to elucidate the structural – functional relationship of apoH in the production of antiphospholipid autoantibodies.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050465

    Articles: DFG German National Licenses
  9. 9
    Kamboh, M. I. ; Ranford, P. R. ; Kirk, R. L.
    Springer
    Published 1984
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Isoelectric focussing (IEF) in thin layer polyacrylamide gels pH range 4–6.5 has been used to analyse the GC phenotypes of 4233 individuals from 28 different population groups in the Asian, Pacific, and Australian area. Because this technique reveals subtypes of the common GC * 1 allele, there is almost a two-fold increase in the mean heterozygosity at the GC locus using IEF compared with conventional electrophoresis. The highest frequency (above 50%) of the GC * 1S allele was encountered in Indian populations, reflecting genetic affinities with European. By comparison, east and south east Asians are unique having maximum values of the GC * 1F allele (50%). With the exception of a few Pacific populations which show similar frequencies to east Asians, all other groups in the Pacific area, including Australia, have values of GC * 1F similar to GC * 1S ranging from 27% to 40%. The GC * 2 frequency in most populations varies from 20% to 30%. However, some Polynesian groups have values up to 40% and Australian Aborigines less than 10%. Among other alleles, GC * 1A1 is found to be widely distributed among Australian Aborigines and Melanesians and occurs sporadically in Polynesians, Micronesians, and in the Lesser Sunda Islands. Four new alleles, GC * 1C24, GC * 1C35 Aborigine, GC * 1A21, and GC * 1A22 are described. The gene frequency data at the GC locus has been used to calculate Nei genetic distances between the populations studied.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00291395

    Articles: DFG German National Licenses
  10. 10
    Kamboh, M. I. ; Ferrell, R. E.
    Springer
    Published 1989
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00210687

    Articles: DFG German National Licenses
  11. 11
    Kamboh, M. I. ; Kirk, R. L.
    Springer
    Published 1983
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary A total of 345 haemolysates previously phenotyped by starch gel electrophoresis and known to contain the products of the PGM 1 3 , PGM 1 6 , and PGM 1 7 alleles have been analyzed by thin layer polyacrylamide gel isoelectric focussing in the pH range 5–7. Two common subtypes, 3+and 3-, of the PGM 1 3 allele have been found in a number of Pacific populations. A single form of the PGM 1 7 allele was observed in the Western Caroline Islands. In contrast, one of two Indian PGM17 variants focussed to a different position when compared with the form found at polymorphic frequency in the Western Caroline Islands. Only one type of the PGM 1 6 allele was detected during the present investigation.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00289480

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Apolipoprotein H (APO H) has recently been identified as a structural component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL). Although the precise metabolic function of APO H in lipid metabolism is not certain, it has been suggested that APO H may be involved in triglyceride (TG) metabolism. In addition to the previously described quantitative polymorphism, we have recently detected a common qualitative polymorphism at the APO H structural locus. To test the role of APO H genetic variation in determining lipoprotein and lipid levels, we have estimated the allelic effects of APO H variation on TG, VLDL, LDL, HDL, HDL3, and total cholesterol on 356 Nigerian blacks(189 males, 167 females). While no significant effect of phenotype was observed on lipoprotein levels, the effect of interaction between phenotype and gender was significant. Therefore, data on males and females were analyzed separately using analysis of variance after adjusting for age and body mass index. Logarithmic transformation of pertinent variables was done to bring the distribution of the variables closer to normality. A statistically significant effect of phenotype was observed on triglyceride levels in females only (P〈0.05). Further analysis of this phenotypic effect revealed that it is due to the impact of the APO H * 3 allele, which raises triglycerides by 9.92 mg/dl as compared to the common allele, APO H * 2. These findings are in accordance with the postulated role of APO H in triglyceride metabolism. On the basis of its sex-specific effect, we propose a hypothesis that may explain the combined influence of the quantitative and qualitative polymorphisms at the APO H locus on triglyceride levels in females.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00284041

    Articles: DFG German National Licenses
  13. 13
    Kamboh, M. I. ; Ferrell, R. E.
    Springer
    Published 1986
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Since the discovery in 1977 that the GC1 gene could be resolved into two common subcomponents on an isoelectric focusing (IEF) gel, a large number of ethnic groups have been screened to analyze the extent of genetic variation in human populations. Using the IEF technique, approximately 50,000 individuals from 160 different populations have been tested for the GC polymorphism. A marked variation in common GC suballele frequencies in different geographic areas seems to correlate with skin pigmentation and intensity of sun light. Pigmented (black) and keratinized (yellowish) skin type populations have a relatively high frequency of the GC *IF allele as compared to white skin populations. By comparison non-pigmented and non-keratinized white skin populations are generally characterized by having the maximum values of the GC *IS allele. The anthropologic significance of the GC locus has been enhanced further by detecting additional unique GC variants which provide useful information about evolutionary links between different populations. However, the presence of some electrophoretically identical unique variants in genetically and geographically distinct populations demand further investigation of these allelic variants to shed more light on their origins.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00290950

    Articles: DFG German National Licenses
  14. 14
    Kamboh, M. I. ; Lyons, L. ; Ferrell, R. E.
    Springer
    Published 1988
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R *3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R *1, C1R *2 and C1R *3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00283738

    Articles: DFG German National Licenses