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  1. Article ; Online: Vitamin D as a Principal Factor in Mediating Rheumatoid Arthritis-Derived Immune Response.

    Aslam, Muhammad M / John, Peter / Bhatti, Attya / Jahangir, Sidrah / Kamboh, M I

    BioMed research international

    2019  Volume 2019, Page(s) 3494937

    Abstract: Rheumatoid arthritis (RA) is a systemic multifactorial autoimmune disorder. The interactions between diverse environmental and genetic factors lead to the onset of this complex autoimmune disorder. Serum levels of vitamin D (VD) are involved in the ... ...

    Abstract Rheumatoid arthritis (RA) is a systemic multifactorial autoimmune disorder. The interactions between diverse environmental and genetic factors lead to the onset of this complex autoimmune disorder. Serum levels of vitamin D (VD) are involved in the regulation of various immune responses. Vitamin D is a key signaling molecule in the human body that maintains calcium as well as phosphate homeostasis. It also regulates the functions of the immune system and, thus, can play a substantial role in the etiology of various autoimmune disorders, including RA. Low serum VD levels have been found to be associated with a higher risk of RA, although this finding has not been replicated consistently. The molecular mechanisms by which VD influences autoimmunity need to be further explored to understand how variation in plasma VD levels could affect the pathogenesis of RA. This mini-review focuses on the influence of VD and its serum levels on RA susceptibility, RA-associated complexities, treatment, and transcriptome products of key proinflammatory cytokines, along with other cytokines that are key regulators of inflammation in rheumatoid joints.
    MeSH term(s) Arthritis, Rheumatoid/immunology ; Arthritis, Rheumatoid/metabolism ; Arthritis, Rheumatoid/pathology ; Calcium/immunology ; Calcium/metabolism ; Cytokines/immunology ; Cytokines/metabolism ; Humans ; Inflammation/immunology ; Inflammation/metabolism ; Inflammation/pathology ; Signal Transduction/immunology ; Vitamin D/immunology ; Vitamin D/metabolism
    Chemical Substances Cytokines ; Vitamin D (1406-16-2) ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2019-05-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2698540-8
    ISSN 2314-6141 ; 2314-6133
    ISSN (online) 2314-6141
    ISSN 2314-6133
    DOI 10.1155/2019/3494937
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Apolipoprotein E polymorphism and susceptibility to Alzheimer's disease.

    Kamboh, M I

    Human biology

    1995  Volume 67, Issue 2, Page(s) 195–215

    Abstract: Apolipoprotein E (apoE, protein; APOE, gene) plays an important role in lipoprotein metabolism by acting as a ligand for two specific cell receptors to mediate the uptake of apoE-containing lipoproteins by cells. The APOE gene, located on chromosome 19, ... ...

    Abstract Apolipoprotein E (apoE, protein; APOE, gene) plays an important role in lipoprotein metabolism by acting as a ligand for two specific cell receptors to mediate the uptake of apoE-containing lipoproteins by cells. The APOE gene, located on chromosome 19, exhibits a genetic polymorphism with three common alleles, APOE*2, APOE*3, and APOE*4, which show marked variation in their distribution among various ethnic groups. APOE polymorphism has a profound effect on interindividual variation in plasma cholesterol level in the general population, and this effect has made the APOE gene one of the most recognized and appreciated genes today. In addition to its pivotal involvement in lipoprotein metabolism, apoE is thought to participate in seemingly unrelated metabolic pathways, including the normal development of the nervous system and peripheral nerve regeneration after injury. The most dramatic and unexpected finding in this regard was made in early 1993, when it was reported that the presence of the APOE*4 allele is a significant risk factor for the development of late-onset familial Alzheimer's disease, a debilitating brain disorder. Since then, a number of studies have confirmed this provocative association and also have found that the APOE*4 allele is a major risk factor for Alzheimer's disease regardless of age at onset or family history. ApoE appears to contribute directly to the pathogenesis of Alzheimer's disease because it has been immunochemically localized in three defining lesions of the disease (extracellular amyloid plaques, intracellular neurofibrillary tangles, and vascular amyloid deposits). In this article I review current data about the association between APOE polymorphism and Alzheimer's disease and possible physiological mechanisms behind this association.
    MeSH term(s) Alleles ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins E/genetics ; Apolipoproteins E/metabolism ; Chromosomes, Human, Pair 19/genetics ; Genetic Variation ; Humans ; Lipoproteins/metabolism ; Polymorphism, Genetic ; Protein Binding ; Risk Factors
    Chemical Substances Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins E ; Lipoproteins
    Language English
    Publishing date 1995-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 1116-2
    ISSN 1534-6617 ; 0018-7143
    ISSN (online) 1534-6617
    ISSN 0018-7143
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    Uc I Zs.207: Show issues Location:
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  3. Article ; Online: Genome-wide copy-number variation study of psychosis in Alzheimer's disease.

    Zheng, X / Demirci, F Y / Barmada, M M / Richardson, G A / Lopez, O L / Sweet, R A / Kamboh, M I / Feingold, E

    Translational psychiatry

    2015  Volume 5, Page(s) e574

    Abstract: About 40-60% of patients with late-onset Alzheimer's disease (AD) develop psychosis, which represents a distinct phenotype of more severe cognitive and functional deficits. The estimated heritability of AD+P is ~61%, which makes it a good target for ... ...

    Abstract About 40-60% of patients with late-onset Alzheimer's disease (AD) develop psychosis, which represents a distinct phenotype of more severe cognitive and functional deficits. The estimated heritability of AD+P is ~61%, which makes it a good target for genetic mapping. We performed a genome-wide copy-number variation (CNV) study on 496 AD cases with psychosis (AD+P), 639 AD subjects with intermediate psychosis (AD intermediate P) and 156 AD subjects without psychosis (AD-P) who were recruited at the University of Pittsburgh Alzheimer's Disease Research Center using over 1 million single-nucleotide polymorphisms (SNPs) and CNV markers. CNV load analysis found no significant difference in total and average CNV length and CNV number in the AD+P or AD intermediate P groups compared with the AD-P group. Our analysis revealed a marginally significant lower number of duplication events in AD+P cases compared with AD-P controls (P=0.059) using multivariable regression model. The most interesting finding was the presence of a genome-wide significant duplication in the APC2 gene on chromosome 19, which was protective against developing AD+P (odds ratio=0.42; P=7.2E-10). We also observed suggestive associations of duplications with AD+P in the SET (P=1.95E-06), JAG2 (P=5.01E-07) and ZFPM1 (P=2.13E-07) genes and marginal association of a deletion in CNTLN (P=8.87E-04). We have identified potential novel loci for psychosis in Alzheimer's disease that warrant follow-up in large-scale independent studies.
    MeSH term(s) Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Case-Control Studies ; Cell Cycle Proteins/genetics ; Cytoskeletal Proteins/genetics ; DNA Copy Number Variations ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Histone Chaperones/genetics ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Jagged-2 Protein ; Male ; Membrane Proteins/genetics ; Multivariate Analysis ; Nuclear Proteins/genetics ; Odds Ratio ; Phenotype ; Polymorphism, Single Nucleotide ; Psychotic Disorders/genetics ; Psychotic Disorders/psychology ; Regression Analysis ; Severity of Illness Index ; Transcription Factors/genetics
    Chemical Substances APC2 protein, human ; CNTLN protein, human ; Cell Cycle Proteins ; Cytoskeletal Proteins ; Histone Chaperones ; Intercellular Signaling Peptides and Proteins ; JAG2 protein, human ; Jagged-2 Protein ; Membrane Proteins ; Nuclear Proteins ; SET protein, human ; Transcription Factors ; ZFPM1 protein, human
    Language English
    Publishing date 2015-06-02
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2609311-X
    ISSN 2158-3188 ; 2158-3188
    ISSN (online) 2158-3188
    ISSN 2158-3188
    DOI 10.1038/tp.2015.64
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  4. Article: A highly sensitive and nonradioactive mutation detection method based on vertical gradient temperature single-strand conformation polymorphism.

    Razzaghi, H / Kamboh, M I

    Electrophoresis

    2001  Volume 22, Issue 13, Page(s) 2665–2669

    Abstract: The single-strand conformation polymorphism (SSCP) method is widely used for mutation detection. The sensitivity of the method depends on several factors, most importantly on the temperature at which electrophoresis of single-stranded DNA (ssDNA) takes ... ...

    Abstract The single-strand conformation polymorphism (SSCP) method is widely used for mutation detection. The sensitivity of the method depends on several factors, most importantly on the temperature at which electrophoresis of single-stranded DNA (ssDNA) takes place. The temperature has a profound effect on the folded conformation of ssDNA. The temperature factor is predominantly determined empirically in conventional SSCP, which can be very tedious especially when a large number of different DNA samples need to be screened. We have devised a novel SSCP method based on a vertical gradient temperature (VGT), which automatically subjects ssDNA to various temperatures in the same electrophoresis. The theory behind VGT-SSCP protocol is that when ssDNA is subjected to run in a wide range of gradient temperature, it will automatically acquire optimal resolution at an optimal temperature to distinguish between the wild type and the mutant type ssDNA. The sensitivity level of mutation detection of VGT-SSCP depends on whether the corresponding optimal secondary structure of a mutant DNA strand is within the preset gradient temperature range. In summary, the VGT-SSCP is a simple and robust nonradioactive method that is more sensitive than constant-temperature SSCP in detecting unknown mutations.
    MeSH term(s) DNA, Single-Stranded/analysis ; Humans ; Lipoprotein Lipase/genetics ; Mutation ; Polymerase Chain Reaction/methods ; Polymorphism, Single-Stranded Conformational ; Sensitivity and Specificity ; Temperature
    Chemical Substances DNA, Single-Stranded ; Lipoprotein Lipase (EC 3.1.1.34)
    Language English
    Publishing date 2001-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 619001-7
    ISSN 1522-2683 ; 0173-0835
    ISSN (online) 1522-2683
    ISSN 0173-0835
    DOI 10.1002/1522-2683(200108)22:13<2665::AID-ELPS2665>3.0.CO;2-A
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    Zs.A 1868: Show issues Location:
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  5. Article ; Online: Association of APOE polymorphisms and stressful life events with dementia in a Pakistani population.

    Chaudhry, M / Hasnain, S / Snitz, B E / Wang, X / Rosenthal, S / Demirci, F Y / Kamboh, M I

    Neuroscience letters

    2014  Volume 570, Page(s) 42–46

    Abstract: Dementia is a major public health problem worldwide. Alzheimer's disease (AD) is a major form of dementia and the APOE 4 allele is an established genetic risk factor for AD. Similarly, stressful life events are also associated with dementia. The ... ...

    Abstract Dementia is a major public health problem worldwide. Alzheimer's disease (AD) is a major form of dementia and the APOE 4 allele is an established genetic risk factor for AD. Similarly, stressful life events are also associated with dementia. The objective of this study was to examine the association of APOE 4 and stressful life events with dementia in a Pakistani sample, which to our knowledge has not been reported previously. We also tested for an interaction between stressful life events and APOE 4 on dementia risk. A total of 176 subjects (61 cases and 115 controls) were recruited. All cases and healthy controls were interviewed to assess cognition, co-morbidities, history of stressful life events and demographics. Blood genotyping for the APOE polymorphism (E2/E3/E4) was performed. APOE 4 and stressful life events were each independently and significantly associated with the risk of dementia (APOE 4: P=0.00697; stressful life events: P=5.29E-09). However, we did not find a significant interaction between APOE 4 carrier status and stressful life events on risk of dementia (P=0.677). Although the sample size of this study was small, the established association of APOE 4 with dementia was confirmed the first time in a Pakistani sample. Furthermore, stressful life events were also found to be significantly associated with dementia in this population.
    MeSH term(s) Aged ; Aged, 80 and over ; Apolipoproteins E/genetics ; Case-Control Studies ; Dementia/etiology ; Dementia/genetics ; Dementia/psychology ; Disease Susceptibility ; Female ; Genetic Association Studies ; Humans ; Life Change Events ; Male ; Pakistan ; Polymorphism, Genetic ; Stress, Psychological/complications ; Stress, Psychological/psychology
    Chemical Substances Apolipoproteins E
    Language English
    Publishing date 2014-04-16
    Publishing country Ireland
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 194929-9
    ISSN 1872-7972 ; 0304-3940
    ISSN (online) 1872-7972
    ISSN 0304-3940
    DOI 10.1016/j.neulet.2014.04.008
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    Zs.A 1166: Show issues Location:
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  6. Article ; Online: Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.

    Demirci, F Yesim / Wang, Xingbin / Morris, David L / Feingold, Eleanor / Bernatsky, Sasha / Pineau, Christian / Clarke, Ann / Ramsey-Goldman, Rosalind / Manzi, Susan / Vyse, Timothy J / Kamboh, M I

    Journal of medical genetics

    2017  Volume 54, Issue 6, Page(s) 381–389

    Abstract: Background: A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polymorphism region (encompassing 3.8 - 4.5  Mb) located at 8p23. Initially implicated genes included : Objective and methods: In this case - ... ...

    Abstract Background: A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polymorphism region (encompassing 3.8 - 4.5  Mb) located at 8p23. Initially implicated genes included
    Objective and methods: In this case -control study, we further investigated the 'extended' 8p23 locus (~ 4  Mb) where we observed multiple SLE signals and assessed these signals for their relation to the inversion affecting this region. The study involved a North American discovery data set (
    Results: Meta-analysis of 8p23 SNPs, with p < 0.05 in both data sets, identified 51 genome-wide significant SNPs (p < 5.0 × 10
    Conclusions: Our results implicate multiple (known+novel) SLE signals/genes at the extended 8p23 locus, beyond previously reported signals/genes, and suggest that this broad locus contributes to SLE risk through the effects of multiple genes/pathways.
    MeSH term(s) Alleles ; Case-Control Studies ; Chromosomes, Human, Pair 8/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Genotype ; Humans ; Lupus Erythematosus, Systemic/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Whites/genetics
    Language English
    Publishing date 2017-03-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2016-104247
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  7. Article: Genetics of apolipoprotein H (beta2-glycoprotein I) and anionic phospholipid binding.

    Kamboh, M I / Mehdi, H

    Lupus

    1998  Volume 7 Suppl 2, Page(s) S10–3

    Abstract: Apolipoprotein H (apoH; also known as beta2-glycoprotein I), is an essential cofactor for the binding of certain antiphospholipid antibodies (APA) to anionic phospholipid. The gene coding for apoH is polymorphic, with the occurrence of several common ... ...

    Abstract Apolipoprotein H (apoH; also known as beta2-glycoprotein I), is an essential cofactor for the binding of certain antiphospholipid antibodies (APA) to anionic phospholipid. The gene coding for apoH is polymorphic, with the occurrence of several common alleles in the general population. This genetically determined variation can effect the binding of apoH to anionic phospholipids and consequently the production of APA. Our group has identified two common mutations at codons 306 (Cys-->Gly) and 316 (Trp-->Ser) in the fifth domain of apoH which affect the binding of apoH to anionic phospholipids (phosphatidylserine or cardiolipin). ApoH from serum samples homozygous for each of these mutations or compound heterozygotes for both mutations showed no binding with anionic phospholipids on ELISA. In vitro mutagenesis and transient expression of these mutations in COS-1 cells followed by cardiolipin binding studies confirmed that Gly306 and Ser316 are causative mutations. Our data indicate that the fifth domain of apoH is essential for anionic phospholipid binding and genetically determined variation in this domain can affect the production of apoH-dependent APA.
    MeSH term(s) Alleles ; Amino Acid Substitution ; Animals ; Anions ; Antiphospholipid Syndrome/genetics ; Antiphospholipid Syndrome/immunology ; Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; COS Cells ; Cardiolipins/metabolism ; Codon/genetics ; Genotype ; Glycoproteins/chemistry ; Glycoproteins/genetics ; Glycoproteins/immunology ; Glycoproteins/metabolism ; Humans ; Phosphatidylserines/metabolism ; Phospholipids/chemistry ; Phospholipids/immunology ; Phospholipids/metabolism ; Point Mutation ; Polymorphism, Genetic ; Protein Binding ; Protein Structure, Tertiary ; Recombinant Fusion Proteins/metabolism ; beta 2-Glycoprotein I
    Chemical Substances Anions ; Cardiolipins ; Codon ; Glycoproteins ; Phosphatidylserines ; Phospholipids ; Recombinant Fusion Proteins ; beta 2-Glycoprotein I
    Language English
    Publishing date 1998
    Publishing country England
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 1154407-7
    ISSN 0961-2033
    ISSN 0961-2033
    DOI 10.1177/096120339800700203
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    Zs.A 3717: Show issues Location:
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  8. Article: Genetic polymorphisms of apolipoproteins A-IV, E and H in Koreans.

    Kim, H S / Kamboh, M I

    Human heredity

    1998  Volume 48, Issue 6, Page(s) 313–317

    Abstract: A South Korean population from Kongju (n = 350) was screened by isoelectric focusing and immunoblotting procedures to determine the distribution of genetic variations in 3 apolipoprotein genes including APOA-IV, APOE and APOH. Although the known APOA-IV ... ...

    Abstract A South Korean population from Kongju (n = 350) was screened by isoelectric focusing and immunoblotting procedures to determine the distribution of genetic variations in 3 apolipoprotein genes including APOA-IV, APOE and APOH. Although the known APOA-IV protein polymorphism was not observed, sporadic examples of 2 putative new variants were identified. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.069, 0.823 and 0.107, respectively. At the APOH structural locus 3 common alleles, APOH*1 (0.010), APOH*2 (0.913) and APOH*3 (0.073) were observed. In addition, a unique APOH allele designated APOH*3 Kongju was identified in this Korean population.
    MeSH term(s) Adult ; Apolipoproteins A/genetics ; Apolipoproteins E/genetics ; Female ; Gene Frequency ; Glycoproteins/genetics ; Humans ; Korea/ethnology ; Male ; Middle Aged ; Phenotype ; Polymorphism, Genetic ; beta 2-Glycoprotein I
    Chemical Substances Apolipoproteins A ; Apolipoproteins E ; Glycoproteins ; apolipoprotein A-IV ; beta 2-Glycoprotein I
    Language English
    Publishing date 1998-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2424-7
    ISSN 1423-0062 ; 0001-5652
    ISSN (online) 1423-0062
    ISSN 0001-5652
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  9. Article: Population genetic studies of PI, Tf, Gc and PGM1 subtypes among various caste groups in North India.

    Kamboh, M I

    Acta anthropogenetica

    1984  Volume 8, Issue 3-4, Page(s) 159–179

    Abstract: Approximately 500 blood samples from various endogamous groups in north India have been subjected to isoelectric focusing to reveal genetic variation at the PI, Tf, Gc and PGM1 loci. The average heterozygosity per locus varies from 40% to 60% and the ... ...

    Abstract Approximately 500 blood samples from various endogamous groups in north India have been subjected to isoelectric focusing to reveal genetic variation at the PI, Tf, Gc and PGM1 loci. The average heterozygosity per locus varies from 40% to 60% and the gene frequency data reflects considerable variation among the caste groups studied. The Nei genetic distances calculated from the 4 loci demonstrate that Khatri, Arora and Rajput are strongly clustered together and genetically they are closer to Brahmin than to Vaish and Scheduled Castes. Vaish emerge as a unique group showing maximum genetic distances with all other caste groups. The comparison of the present populations with our own data from two south Indian populations indicates that the tribal population of Soliga is distinct from the non-tribal populations, but the non-tribal south Indian series clusters closely with the main caste populations in north India.
    MeSH term(s) Gene Frequency ; Genetics, Population ; Humans ; India ; Pakistan/ethnology ; Phenotype ; Phosphoglucomutase/genetics ; Transferrin/genetics ; Vitamin D-Binding Protein/genetics ; alpha 1-Antitrypsin/genetics
    Chemical Substances Transferrin ; Vitamin D-Binding Protein ; alpha 1-Antitrypsin ; Phosphoglucomutase (EC 5.4.2.2)
    Language English
    Publishing date 1984
    Publishing country India
    Document type Journal Article
    ZDB-ID 429007-0
    ISSN 0258-0357
    ISSN 0258-0357
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    Zs.B 2016: Show issues Location:
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  10. Article ; Online: A replication study of 49 Type 2 diabetes risk variants in a Punjabi Pakistani population.

    Zia, A / Wang, X / Bhatti, A / Demirci, F Y / Zhao, W / Rasheed, A / Samuel, M / Kiani, A K / Ismail, M / Zafar, J / John, P / Saleheen, D / Kamboh, M I

    Diabetic medicine : a journal of the British Diabetic Association

    2016  Volume 33, Issue 8, Page(s) 1112–1117

    Abstract: Aim: The burden of Type 2 diabetes is alarmingly high in South Asia, a region that has many genetically diverse ethnic populations. Genome-wide association studies (GWAS) conducted largely in European populations have identified a number of loci ... ...

    Abstract Aim: The burden of Type 2 diabetes is alarmingly high in South Asia, a region that has many genetically diverse ethnic populations. Genome-wide association studies (GWAS) conducted largely in European populations have identified a number of loci predisposing to Type 2 diabetes risk, however, the relevance of such genetic loci in many South Asian sub-ethnicities remains elusive. The aim of this study was to replicate 49 single nucleotide polymorphisms (SNPs) previously identified through GWAS in Punjabis living in Pakistan.
    Methods: We examined the association of 49 SNPs in 853 Type 2 diabetes cases and 1945 controls using additive logistic regression models after adjusting for age and gender.
    Results: Of the 49 SNPs investigated, eight showed a nominal association (P < 0.05) that also remained significant after controlling for the false discovery rate. The most significant association was found for rs7903146 at the TCF7L2 locus. For a per unit increase in the risk score comprising of all the 49 SNPs, the odds ratio in association with Type 2 diabetes risk was 1.16 (95% CI 1.13-1.19, P < 2.0E-16).
    Conclusion: These results suggest that some Type 2 diabetes susceptibility loci are shared between Europeans and Punjabis living in Pakistan.
    Language English
    Publishing date 2016-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 605769-x
    ISSN 1464-5491 ; 0742-3071 ; 1466-5468
    ISSN (online) 1464-5491
    ISSN 0742-3071 ; 1466-5468
    DOI 10.1111/dme.13012
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