Dermatoglyphic Traits, ABO/Rh Blood Groups, and Genetic Variants in Myocardial Infarction

1. A study on dermatoglyphic trait, ABO/Rh blood groups and common genetic variants associated with myocardial infarction Research Scholar: Mr. Muhammed Asif Reg. No. 097/ Jan 2013 Lecturer, Dept. Of Anatomy, Yenepoya Medical College Guide: Dr. Shivarama Bhat Professor of Anatomy, Yenepoya Medical College Deralakatte – 575018

2. Comments of previous review and action taken

3. 1. Location of T has to be more specific 2. Reliability of ATD angle

4. Triradius • The 'triradius' is recognized by the presence of a meeting of 3 individual 'ridge fields', where the 3 'radiants' (starting from the 'triradial' point) should make angles that are close to 120 degrees. • It is specified: all angles are required to be higher than 90 degrees 

5. Axial triradius (‘t’) - this triradius is usually observed on the ulnar side of the palm near the wrist. In the hands of people with an 'autosomaltrisomy' the axial triradius is usually observed at a higher region of the ulnar side of the palm (Schaumann et al., 1976; Loesch 1976) • Therefore there is no exact location of ‘t’.

6. Normal Atd angle range was from 30o to 65o, where as cases of mental retardation revealed a range of >65o. • The pattern in hypothenar area may be the cause for presence of the distal triradius in palm of mentally retarded (Vashist et al, 2010).

7. Reliability of ATD angle • According to Brunson et al, (2015) the ATD angle can be measured reliably whether reading are made by one individual or multiple readers because intra-reader correlations 0.97 or greater for both readers and inter-reader correlations for ATD angles measure 0.92 to 0.96 (Brunson et al., 2015)

8. References - Triradius • Schaumann, B. & Alter, M. Dermatoglyphics in Medical Disorders. Springer-Verlag, New York., 1976.  • Loesch, D.L. Quantitative Dermatoglyphics: Classification, genetics, and pathology. Oxford Medical Publications, 1983. • Vashist M, Yadav R, Kumar A. Axial triradius as a preliminary diagnostic tool in patients of mental retardation. The Internet Journal of Biological Anthropology. 2010;4(1). • Brunson EK, Holman DJ, Giovas CM. Reliability of the ATD Angle in Dermatoglyphic Analysis. Collegiumantropologicum. 2015 Nov 20;39(3):797-800.

9. 3. Association of dermatoglyphic patterns, MI and control • Done with • 197 Myocardial infarction patients • 197 control samples • Discussed in detail - Slide No. 47, 48, 49, 50, 51

10. Introduction and Background • Myocardial infarction (MI) is a multifactorial disease and has been projected that by 2020 MI would be the leading cause of death and disability worldwide (Lloyd et al, 2009). • Despite changing lifestyle and inventing of pharmacologic approaches still, the MI continuous to be a principal cause of death in many countries (Murray et al., 1997).

11. Primaryunderlying and treatable risk factors for MI include • hypertension, • Dyslipidemia, • Diabetes mellitus, • Smoking • In addition - studies have revealed the importance of specific genetic factors and their interactions with environmental factors(Yamada et al., 2008).

12. Usually identification – risk individuals - developing MI involves • fasting lipid profile • blood pressure measurements - done throughout the lifespan of every individual. • Although they provide significant prediction, • identifying a sensitive and specific predictive marker would be extremely valuable in reducing the death rate in MI.

13. In this context dermatoglyphic patterns, blood groups and genes are ideal markers - if proved to be consistently associated with the disease (Yamamoto et al, 1990; Karmaka et al, 2006; Cambien 2007; Lalueza et al, 2008; Karmakar et al, 2009; Musunuru et al, 2010; Kathiresan et al, 2012 ).

14. Review of Literature • Dermatoglyphic patterns is unique for every individual & are determined by genetic factors and have proved to be a useful tool used for identification of many gene-linked abnormalities and diseases (Sawant et al., 2013; Stosljeviu et al, 2013). . • It is unaffected by the environment, and this explains their unique role, as an ideal marker for individual identification (Cummins, 1961; Reed et al, 1977; Meier, 1980; Livshits et al, 1991).

15. Several studies – have proved the predictive capabilities of dermatoglyphics and diseases (ophthalmic disorders (Tarca 2004), DM type 1 (Tarca et al., 2005), Schizophrenia (Sawant et al., 2013), Pulmonary Tuberculosis (Chaudhari et al., 2011), Bronchial Asthma (Mahajan et al., 2011), Autism (Stosljevi et al., 2013), Cancers (Subrahmanyam et al., 2012), etc. • Loop & whorl patterns - increased in myocardial infarction (Shamsadini et al., 1997; Rashad et al., 1975 & Dhall et al., 2000).

16. Iranian population – Arch type – left thumb, left ring & left index fingers increased in MI when compared to control (16). • Chennai – tented arch & radial loops were higher in MI when compared to control group ( Rekha et al., 2012). • Similarly percentage of whorls were higher in MI (Salunkhe et al, 2015; Manara et al, 2011) coronary artery disease (Hong et al, 2015; Chimme et al, 2012) whereas loop pattern was decreased.

17. When compared to the blood group high frequency of whorls – group A, loops – group A & O, whorls – A & B, Arches – group A • Whereas Rh-Positive significantly greater number of loops; Rh-negative higher whorls ( Gowda et al., 1996).

18. Further, Individual with blood group A, AB were more susceptible to CVD in British, Hungerian & UK population (Platt et al., 1985, Fox et al., 1986; Whincup et al., 1990, Tarjan et al., 1995; Meade et al., 1994). • Group O was significantly higher in male and female patients with total cholesterol, glucose and HTN when compared to control group (Jassim 2012).

19. The candidate gene LRP8 - European ancestries & one Asian cohort from South Korea in which TACGC haplotype was found [3.1% of patients with coronary artery disease and 4.2% of patients with myocardial infarction]. • But TACGC haplotype was absent in control group. • Thus this haplotype (TACGC) confers a significant risk factor for coronary artery disease and myocardial infarction (Martinelli et al, 2009; Shen et al 2007, 2014)

20. Therefore, • Link has been shown between dermatoglyphic patterns and heart disease. • Link has been shown between dermatoglyphic patterns and blood groups. • Link has been shown between blood group and heart disease. • Link has been shown between candidate gene & heart disease. • Combined studies correlating all the three parameters in relation to MI are limited.

21. Aim To analyze dermatoglyphic patterns, ABO/Rh blood groups and gene loci associated with myocardial infarction.

22. SOCIAL RELEVANCE OF THE STUDY • MI rank top most as etiological factors of morbidity & mortality in in global population (Thoma et al., 2006). • Changing lifestyles & food habits of the present generation is the main reason for existing worries. • Every case of MI involves substantial economic burden, on the family of the patient. • Identification of risk factor at a very early stage in life, even before the disease has set in can be of great advantage.

23. In this context this study attempts to analyze 3 parameters which include dermatoglyphics, blood group and genes and their association with cardiac illness . • New markers are found during the course of this study in genes, in blood and in palm & finger prints, may detect at population at risk before the onset of disease, and moreover entire populations can be screened using these parameters & individuals at risk can be identified.

24. Objectives • Analysis of dermatoglyphic patterns and ABO and Rh blood groups in myocardial infarction patients. • Analysis of gene loci associated with myocardial infarction. • To find out the relationship between dermatoglyphics, blood groups and candidate genes associated with myocardial infarction.

25. Hypothesis • This study is strongly hypothesized on the basis, cases of myocardial infarction show a genetic association and • Genetic association is also prevalent in dermatoglyphic patterns and blood groups.

26. Hypothesis… H1 – there is an association between dermatoglyphic patterns and myocardial infarction. H2 – there is an association between blood group and myocardial infarction. H3 – candidate gene LRP8 is associated with myocardial infarction.

27. MATERIALS AND METHODS • Sample Size: • It is a time bound study based on the cases available in the hospital. Approximately 20 cases per month is taken. • 18 months, from 360 patients samples will be obtained. • Equal number of control samples will also be collected. • Sample will be collected from major government and private hospitals in Mangalore. • Controls will be selected randomly belonging to same region.

28. INFORMED CONSENT FORM A study on dermatoglyphic trait, ABO/Rh blood groups and common genetic variants associated with myocardial infarction. (Yenepoya hospital/ K.S Hegde hospital, Deralakatte) Name of the patient: Age: Sex: Address: Exercising free power of choice, I am hereby giving my written consent to be included as subject in the study “A study on dermatoglyphic trait, ABO/Rh blood groups and common genetic variants associated with myocardial infarction”, conducted by Muhammed Asif. I have been informed in the language which I understand, by the investigator about the purpose of study. I was given opportunity to discuss and to seek clarification on each and every aspect of this study. Signature of patient Signature of researcher

29. DATA COLLECTION FORM Title of the study:A study on dermatoglyphic trait, ABO/Rh blood groups and common genetic variants associated with myocardial infarction. • Name of the patient: • Age: • Sex: • Education: • Address: • Occupation (Price, 2004) • Professional • Skilled • Unskilled • Others

30. History of addiction • Smoking / tobacco: current / past / never • Alcohol: current / past / never • Drug abuse: current / past / never • Physical activity (Myers, 2003) • Sedentary • Moderate activity • Vigorous exercise • Are you practicing yoga (Havard health publication, 2015) yes or no

31. Dietary habits (Nola et al, 2010) • Mixed diet • Egg , • Fish, • Meat • Vegetarian • Cereals • Fatty diet • Diary products • History of other illness 8 Family history of • DiseasesMI • Diabetes - present/ absent Hypertension • Hypertension – present / absent Diabetes

32. Methodology: • Present study will be carried out at 3 levels: • Dermatoglyphic patterns analysis, • Blood groups analysis, • Gene analysis.

33. Research design: analytical cross sectional MI in sporadic group MI with familial background Control group - Dermatoglyphic pattern - Blood grouping Patients with common dermatoglyphic pattern and blood groups will be analyzed in all the above mentioned groups Gene analysis - patient’s specific dermatoglyphic patterns in MI patients with familial background. Gene analysis for similar pattern of control group will be carried out Correlation between dermatoglyphic patterns, blood group and mutations in the candidate genes Statistical analysis will be carried out

34. Inclusion criteria

35. Exclusion criteria

36. Materials required for dermatoglyphic analysis

38. Fig 1: Dermatoglyphic pattern & ATD angle

39. Qualitative variables • Arch (simple arch, tented arch), • Loop (ulnar loop and radial loop) and • whorl (simple, double – lateral pocket loop, twinned loop, central pocket loop) or Accidental. Fig 2: Arch Fig 3: Loop Fig 4: Whorl

40. Fig 5: Composite dermatoglyphic patterns

41. Examination of dermatoglyphic patterns:- • Quantitativevariables • Ridge count (only for loop pattern) • Ridge count of thumb, index, middle and little fingers of both hands. • Right hand total finger ridge count (TFRC) • Left hand total finger ridge count (TFRC)

42. Number & position of palmar Triradii • True palmar patterns • Only A-B ridge count • Angle • ATD angle • Left hand atd angle • Right hand atd angle Fig 6 : ATD angle

43. Data – Microsoft Office Xcel work sheet

44. Dermatoglyphic pattern Analysis: • Dermatoglyphic analysis was IBM SPSS Statistics Version 23

45. Dermatoglyphic pattern Analysis: • Retrospective study for197 MI (old MI) and AMI

48. Table 4: Distribution of blood group with to age group

49. Table 5: Right and left finger print comparison

50. Table 6: Comparison of right and left composite finger print