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Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
Genetics of Exfoliation Syndrome Partnership; Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tash… See abstract for full author list ➔ Genetics of Exfoliation Syndrome Partnership, et al. JAMA. 2021 Feb 23;325(8):753-764. doi: 10.1001/jama.2021.0507. JAMA. 2021. PMID: 33620406 Free PMC article.

Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfoliation syndrome (odds ratio, 1.82 [95% CI, 1.47-2.26]; P < .001). Biochemical assays classified 34 of 42 damaging CYP39A1 alleles

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Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfo …
Genetic characterization of Y-chromosomal STRs in Hazara ethnic group of Pakistan and confirmation of DYS448 null allele.
Adnan A, Rakha A, Kasim K, Noor A, Nazir S, Hadi S, Pang H. Adnan A, et al. Int J Legal Med. 2019 May;133(3):789-793. doi: 10.1007/s00414-018-1962-x. Epub 2018 Oct 30. Int J Legal Med. 2019. PMID: 30377775
The Hazara population samples were profiled for three additional Y-STRs (DYS388, DYS449 and DYS460), which increased the number of unique haplotypes to 144 while the DC increased to 94.11% in Hazara Population of Pakistan. Interestingly, null alleles were observed at DYS44 …
The Hazara population samples were profiled for three additional Y-STRs (DYS388, DYS449 and DYS460), which increased the number of unique ha …
Impact of Toll-Like Receptor 2 and 9 Gene Polymorphisms on COVID-19: Susceptibility, Severity, and Thrombosis.
Alhabibi AM, Hassan AS, Abd Elbaky NM, Eid HA, Khalifa MAAA, Wahab MA, Althoqapy AA, Abdou AE, Zakaria DM, Nassef EM, Kasim SA, Saleh OI, Elsheikh AA, Lotfy M, Sayed A. Alhabibi AM, et al. J Inflamm Res. 2023 Feb 17;16:665-675. doi: 10.2147/JIR.S394927. eCollection 2023. J Inflamm Res. 2023. PMID: 36825132 Free PMC article.
Citrullinated Histone (H3) was detected as an indicator of NETs. RESULTS: The mutant (G/A and C/C) genotypes and (A and C) alleles of TLR2 rs5743708 and TLR9 rs5743836, respectively, have been significantly related to a higher risk of COVID-19 infection, representing a sig …
Citrullinated Histone (H3) was detected as an indicator of NETs. RESULTS: The mutant (G/A and C/C) genotypes and (A and C) alleles of …
Impact of miR-155 rs767649 Polymorphism on Rheumatoid Arthritis Activity in Egyptian Patients.
Elghouneimy MA, Ramadan MA, Farrag EA, Ibrahim HF, Khirala SK, Seliem N, Kasim SA, Moazen EM, Attia AA, Mohammed FI, Ghamry AA. Elghouneimy MA, et al. Cureus. 2023 Nov 23;15(11):e49297. doi: 10.7759/cureus.49297. eCollection 2023 Nov. Cureus. 2023. PMID: 38351964 Free PMC article.
The RA group had a significantly higher frequency of TT genotypes and significantly lower frequencies of TA and TT genotypes than the control group. Considering the TT genotype and T allele as references, TA, AA, and TA/AA genotypes in the dominant model; AA in the recessi …
The RA group had a significantly higher frequency of TT genotypes and significantly lower frequencies of TA and TT genotypes than the contro …
Genetic analysis of 12 X-STRs for forensic purposes in Liaoning Manchu population from China.
Xing J, Adnan A, Rakha A, Kasim K, Noor A, Xuan J, Zhang X, Yao J, McNevin D, Wang B. Xing J, et al. Gene. 2019 Jan 30;683:153-158. doi: 10.1016/j.gene.2018.10.020. Epub 2018 Oct 13. Gene. 2019. PMID: 30326331
In this study, we have investigated the forensic genetic properties of 12 X-STRs in the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany) in 772 Manchu (male = 514, female = 258) individuals from the Xiuyan and Huanren Manchu autonomous counties of Liaoning province. We obser …
In this study, we have investigated the forensic genetic properties of 12 X-STRs in the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany …
Forensic characterization of 15 autosomal STRs in four populations from Xinjiang, China, and genetic relationships with neighboring populations.
Zhan X, Adnan A, Zhou Y, Khan A, Kasim K, McNevin D. Zhan X, et al. Sci Rep. 2018 Mar 16;8(1):4673. doi: 10.1038/s41598-018-22975-6. Sci Rep. 2018. PMID: 29549272 Free PMC article.
The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors 47 ethnic groups including the Manchu (MCH: 0.11%), Mongols (MGL: 0.81%), Kyrgyz (KGZ: 0.86%) and Uzbek (UZK: 0.066%). To establish DNA databases for these populations, allele frequency distributions for 15 aut …
The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors 47 ethnic groups including the Manchu (MCH: 0.11%), Mongols (MGL: 0.81%), Kyr …
Population data and phylogenetic structure of Han population from Jiangsu province of China on GlobalFiler STR loci.
Adnan A, Zhan X, Kasim K, Rakha A, Xin XJ. Adnan A, et al. Int J Legal Med. 2018 Sep;132(5):1301-1304. doi: 10.1007/s00414-018-1815-7. Epub 2018 Mar 2. Int J Legal Med. 2018. PMID: 29500610
Forensic statistical parameters based on allelic frequencies of commonly used short tandem repeats were estimated for the Han population of Jiangsu province from P.R. ...Here, we analyzed the GlobalFiler STR loci in 516 unrelated individuals from Jiangsu Han population. A …
Forensic statistical parameters based on allelic frequencies of commonly used short tandem repeats were estimated for the Han populat …
Association of interferon gamma gene polymorphism and susceptibility to hepatitis C virus infection in Egyptian patients: A multicenter, family-based study.
El-Bendary M, Neamatallah M, Elalfy H, Besheer T, El-Setouhy M, Kasim N, Abou El-Khier NT, Kamel E, Eladl AH, El-Waseef A, Abdel-Aziz AF, Esmat G. El-Bendary M, et al. JGH Open. 2017 Dec 19;1(4):140-147. doi: 10.1002/jgh3.12024. eCollection 2017 Dec. JGH Open. 2017. PMID: 30483551 Free PMC article.

RESULTS: The carriage of T allele of (+874) IFN-gamma is a risky allele and was significantly higher in chronic hepatitis C more than other two groups (odds ratio [OR]: 2.6646, P < 0.0002). On the other hand, the C allele of (-764, rs2069707) is a protecti

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RESULTS: The carriage of T allele of (+874) IFN-gamma is a risky allele and was significantly higher in chronic hepatitis C mo …
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D… See abstract for full author list ➔ Aung T, et al. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 Free PMC article.
To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allel …
To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previousl …
13 results