The document summarizes a study that investigated the association between genetic variants on chromosome 1p13.3 and serum LDL-cholesterol levels and risk of coronary artery disease among patients in Qatar. The study genotyped three SNPs, rs599839, rs646776, and rs4970834, in subjects with single or multiple coronary lesions. The results found no statistically significant association between the variants and LDL-cholesterol levels or cardiovascular disease risks.

1. THE ASSOCIATION BETWEEN SERUM LDL-CHOLESTEROL AND GENETIC VARIATION IN CHROMOSOMAL LOCUS 1P13.3 AMONG CORONARY ARTERY DISEASE PATIENTS IN QATAR Presented by/Huda Ibrahim Idil Souleman Wais Supervisors/ Dr. Nasser Rizk Dr. Ayman El Menyar 03/09/11 BIOM 497

19. Methodology 03/09/11

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23. 03/09/11 DNA extracted from whole blood samples of using the QiaAmp DNA blood Mini Kit from Qiagen Cat with RBC lysis solution Measuring DNA concentration by using nanodrop Spectrophotometer. All SNPs were genotyped. Polymorphisms of these SNPs carried out by using TaqMan MGB probe by means of an ABI 7500 [Applied Biosystems, Foster City, CA).

26. Results 03/09/11

27. 03/09/11 BIOM Table:1 Variables Group (A) Group (B) P- value Age 56 (46 – 64) 5 (49 – 61) 0.98 Male Female 22 (84.62%) 4 (15.83%) 16 (100%) 0 - Qatari Non-Qatari 8 (30.8%) 18 (69.2%) 4 (25%) 12 (75%) - BMI Overweight Obese 27.32 (23.31 – 31.17) 9 (34.6%) 6 (37.5%) 26.96 (24.19 – 32.45) 6 (23.1%) 5 (31.25%) 0.794 0.15 SBP DBP HTN 129.19 (18.57) 75.33 (8.66) 7 (26.9%) 134.56 (15.94) 74.88 (8.57) 6 (37.5%) 0.361 0.874 0.07 DM 12 (46.2%) 8 (50%) 0.81 Glucose (Mm) 7.3 (5.88 – 14.45) 6.6 (5.53 – 9.60) 0.509

28. 03/09/11 BIOM LDL ( <3.37 mmol/L) 3.17 (0.90) 3.44 (1.01) 0.406 HDL (>0.9 mmol/L) 1.03 (0.23) 1.08 (0.24) 0.447 TC (<5.2 mmol/L) 4.89 (0.94) 5.11 (1.40) 0.593 Dyslipdemia 12 (46.2%) 7 (43.75%) 0.58 TG (<2.20 mmol/L) 1.55 (1.06 – 2.18) 1.32 (1.14 – 1.92) 0.637 Insulin (mmol/L) 25.46 (10.12 – 41.83) 4.20 (8.78 – 32.13) 0.484 Troponin (<0.4 ng/mL) 0.35 (0.02 – 2.13) 2.72 (0.37 – 8.24) 0.030 CK-MB (0-3 ng/mL) 11.0 (3.46 – 34.86) 68.0 (5.58 – 266.23) 0.08 On anti-diabetic treatment 10 (38.5%) 10 (62.5%) 0.15 On lipidemic treatment 5 (19.2%) 6(37.5%) 0.22

29. 03/09/11 BIOM Table:2 Genotype distribution --------------------------------------------- Genotype Group A Group B lesion <20% lesion >20% n, (%) n, (%) P value rs59839 AA AG GG 0 (0.0) 22.0 (88.0) 3.0 (12.0) 1 (6.25) 12.0 (75.0) 3.0 (18.75) 0. 34 rs646776 AA AG GG 10.0 (41.7) 0.0 (0.0) 14.0 (58.3) 8.0 (53.3) 0.0 (0.0) 7.0 (46.7) 0.76 rs4970984 CC CT TT 0.0 (0.0) 25.0 (100) 0.0 (0.0) 0.0 (0.0) 16 (0.0) 0.0 (0.0) 0.21

30. Results for rs599839 03/09/11 Risk factor Standard Error [95% CI] OR P- value Age 0.07 1.04 (0.91-1.20) 0.517 BMI 0.17 0.77 (0.55-1.07) 0.115 Hypertension 1.44 10.6 (0.61-171.06) 0.10 Risk factor Standard Error [95% CI] OR P- value Diabetes 1.61 6.49 (0.28-151.81) 0.24 LDL 0.79 0.27(0.02-3.61) 0.33 Dyslipdemia 1.32 0.62(1.32-2.93) 0.54

31. Results for rs646776 03/09/11 Risk factor Standard Error Odds Ratio [95% CI] P- value Age 0.04 1.08(0.99-1.19) 0.09 BMI 0.06 1.00(0.90-1.12) 0.94 Hypertension 0.84 0.39(0.08-2.06) 0.27 Risk factor Standard Error Odds Ratio [95% CI] P- value Diabetes 0.82 1.85(0.37-9.27) 0.44 LDL 0.41 1.40(0.63-3.11) 0.40 Dyslipdemia 0.82 4.24(0.83-21.49) 0.08

33. Discussion 03/09/11 BIOM Minor Allele Frequency – rs599839(A/G) In Qatar <20% lesion A= 0.44 >20% lesion A=0.43 Caucasian African American Chinese Japanese 0.32 (G) 0.13 (A) 0.03 (G) 0.08 (G) Caucasian African American Chinese Japanese 0.28(G) 0.26(G) 0.01(G 0.06 (G) Caucasian African American Chinese Japanese 0.28 (T) 0.33 (T) 0.02 (T) 0.04 (T) Minor Allele Frequency – rs646776(A/G) In Qatar <20% lesion A= 0.42 >20% lesion A=0.53 Minor Allele Frequency – rs4970984 - (C/T) In Qatar <20% lesion T= 0.5 >20% lesion T=0.5